The exocyst subunit EXOC2 regulates the toxicity of expanded GGGGCC repeats in C9ORF72-ALS/FTD

GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2, which encodes an essentia...

Full description

Saved in:
Bibliographic Details
Published inCell reports (Cambridge) Vol. 43; no. 7; p. 114375
Main Authors Halim, Dilara O., Krishnan, Gopinath, Hass, Evan P., Lee, Soojin, Verma, Mamta, Almeida, Sandra, Gu, Yuanzheng, Kwon, Deborah Y., Fazzio, Thomas G., Gao, Fen-Biao
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 23.07.2024
Elsevier
Subjects
Online AccessGet full text

Cover

Loading…
Abstract GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2, which encodes an essential exocyst subunit, in induced pluripotent stem cells (iPSCs) derived from C9ORF72-ALS/FTD patients. These cells are viable owing to the presence of truncated EXOC2, suggesting that exocyst function is partially maintained. Several disease-relevant cellular phenotypes in C9ORF72 iPSC-derived motor neurons are rescued due to, surprisingly, the decreased levels of dipeptide repeat (DPR) proteins and expanded G4C2 repeats-containing RNA. The treatment of fully differentiated C9ORF72 neurons with EXOC2 antisense oligonucleotides also decreases expanded G4C2 repeats-containing RNA and partially rescued disease phenotypes. These results indicate that EXOC2 directly or indirectly regulates the level of G4C2 repeats-containing RNA, making it a potential therapeutic target in C9ORF72-ALS/FTD. [Display omitted] •The N-terminal fragment of EXOC2 is sufficient to maintain cell viability•Deletion of EXOC2 in C9ORF72-ALS/FTD motor neurons rescues disease phenotypes•EXOC2 ASOs reduce axon degeneration and apoptosis in C9ORF72 motor neurons•Loss of EXOC2 decreases the levels of DPR proteins and expanded G4C2 repeats RNA Halim et al. deleted the gene EXOC2 from patient stem cells and then differentiated them into motor neurons. They found that several amyotrophic lateral sclerosis-related phenotypes were rescued in patient neurons when EXOC2 was deleted or knocked down by a drug. This study identifies EXOC2 as a potential therapeutic target.
AbstractList GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2, which encodes an essential exocyst subunit, in induced pluripotent stem cells (iPSCs) derived from C9ORF72-ALS/FTD patients. These cells are viable owing to the presence of truncated EXOC2, suggesting that exocyst function is partially maintained. Several disease-relevant cellular phenotypes in C9ORF72 iPSC-derived motor neurons are rescued due to, surprisingly, the decreased levels of dipeptide repeat (DPR) proteins and expanded G4C2 repeats-containing RNA. The treatment of fully differentiated C9ORF72 neurons with EXOC2 antisense oligonucleotides also decreases expanded G4C2 repeats-containing RNA and partially rescued disease phenotypes. These results indicate that EXOC2 directly or indirectly regulates the level of G4C2 repeats-containing RNA, making it a potential therapeutic target in C9ORF72-ALS/FTD.GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2, which encodes an essential exocyst subunit, in induced pluripotent stem cells (iPSCs) derived from C9ORF72-ALS/FTD patients. These cells are viable owing to the presence of truncated EXOC2, suggesting that exocyst function is partially maintained. Several disease-relevant cellular phenotypes in C9ORF72 iPSC-derived motor neurons are rescued due to, surprisingly, the decreased levels of dipeptide repeat (DPR) proteins and expanded G4C2 repeats-containing RNA. The treatment of fully differentiated C9ORF72 neurons with EXOC2 antisense oligonucleotides also decreases expanded G4C2 repeats-containing RNA and partially rescued disease phenotypes. These results indicate that EXOC2 directly or indirectly regulates the level of G4C2 repeats-containing RNA, making it a potential therapeutic target in C9ORF72-ALS/FTD.
GGGGCC (G 4 C 2 ) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2 , which encodes an essential exocyst subunit, in induced pluripotent stem cells (iPSCs) derived from C9ORF72 -ALS/FTD patients. These cells are viable owing to the presence of truncated EXOC2, suggesting that exocyst function is partially maintained. Several disease-relevant cellular phenotypes in C9ORF72 iPSC-derived motor neurons are rescued due to, surprisingly, the decreased levels of dipeptide repeat (DPR) proteins and expanded G 4 C 2 repeats-containing RNA. The treatment of fully differentiated C9ORF72 neurons with EXOC2 antisense oligonucleotides also decreases expanded G 4 C 2 repeats-containing RNA and partially rescued disease phenotypes. These results indicate that EXOC2 directly or indirectly regulates the level of G 4 C 2 repeats-containing RNA, making it a potential therapeutic target in C9ORF72 -ALS/FTD. Halim et al. deleted the gene EXOC2 from patient stem cells and then differentiated them into motor neurons. They found that several amyotrophic lateral sclerosis-related phenotypes were rescued in patient neurons when EXOC2 was deleted or knocked down by a drug. This study identifies EXOC2 as a potential therapeutic target.
GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2, which encodes an essential exocyst subunit, in induced pluripotent stem cells (iPSCs) derived from C9ORF72-ALS/FTD patients. These cells are viable owing to the presence of truncated EXOC2, suggesting that exocyst function is partially maintained. Several disease-relevant cellular phenotypes in C9ORF72 iPSC-derived motor neurons are rescued due to, surprisingly, the decreased levels of dipeptide repeat (DPR) proteins and expanded G4C2 repeats-containing RNA. The treatment of fully differentiated C9ORF72 neurons with EXOC2 antisense oligonucleotides also decreases expanded G4C2 repeats-containing RNA and partially rescued disease phenotypes. These results indicate that EXOC2 directly or indirectly regulates the level of G4C2 repeats-containing RNA, making it a potential therapeutic target in C9ORF72-ALS/FTD. [Display omitted] •The N-terminal fragment of EXOC2 is sufficient to maintain cell viability•Deletion of EXOC2 in C9ORF72-ALS/FTD motor neurons rescues disease phenotypes•EXOC2 ASOs reduce axon degeneration and apoptosis in C9ORF72 motor neurons•Loss of EXOC2 decreases the levels of DPR proteins and expanded G4C2 repeats RNA Halim et al. deleted the gene EXOC2 from patient stem cells and then differentiated them into motor neurons. They found that several amyotrophic lateral sclerosis-related phenotypes were rescued in patient neurons when EXOC2 was deleted or knocked down by a drug. This study identifies EXOC2 as a potential therapeutic target.
GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2, which encodes an essential exocyst subunit, in induced pluripotent stem cells (iPSCs) derived from C9ORF72-ALS/FTD patients. These cells are viable owing to the presence of truncated EXOC2, suggesting that exocyst function is partially maintained. Several disease-relevant cellular phenotypes in C9ORF72 iPSC-derived motor neurons are rescued due to, surprisingly, the decreased levels of dipeptide repeat (DPR) proteins and expanded G4C2 repeats-containing RNA. The treatment of fully differentiated C9ORF72 neurons with EXOC2 antisense oligonucleotides also decreases expanded G4C2 repeats-containing RNA and partially rescued disease phenotypes. These results indicate that EXOC2 directly or indirectly regulates the level of G4C2 repeats-containing RNA, making it a potential therapeutic target in C9ORF72-ALS/FTD.
GGGGCC (G C ) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2, which encodes an essential exocyst subunit, in induced pluripotent stem cells (iPSCs) derived from C9ORF72-ALS/FTD patients. These cells are viable owing to the presence of truncated EXOC2, suggesting that exocyst function is partially maintained. Several disease-relevant cellular phenotypes in C9ORF72 iPSC-derived motor neurons are rescued due to, surprisingly, the decreased levels of dipeptide repeat (DPR) proteins and expanded G C repeats-containing RNA. The treatment of fully differentiated C9ORF72 neurons with EXOC2 antisense oligonucleotides also decreases expanded G C repeats-containing RNA and partially rescued disease phenotypes. These results indicate that EXOC2 directly or indirectly regulates the level of G C repeats-containing RNA, making it a potential therapeutic target in C9ORF72-ALS/FTD.
ArticleNumber 114375
Author Halim, Dilara O.
Krishnan, Gopinath
Lee, Soojin
Almeida, Sandra
Kwon, Deborah Y.
Verma, Mamta
Gu, Yuanzheng
Fazzio, Thomas G.
Hass, Evan P.
Gao, Fen-Biao
AuthorAffiliation 6 Lead contact
4 Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
5 Neuromuscular & Muscle Disorders, Biogen, Cambridge, MA 02142, USA
2 Graduate Program in Neuroscience, Morningside Graduate School of Biomedical Sciences, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
1 Frontotemporal Dementia Research Center, RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
3 Department of Molecular, Cell, and Cancer Biology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
AuthorAffiliation_xml – name: 5 Neuromuscular & Muscle Disorders, Biogen, Cambridge, MA 02142, USA
– name: 2 Graduate Program in Neuroscience, Morningside Graduate School of Biomedical Sciences, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
– name: 6 Lead contact
– name: 3 Department of Molecular, Cell, and Cancer Biology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
– name: 4 Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
– name: 1 Frontotemporal Dementia Research Center, RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
Author_xml – sequence: 1
  givenname: Dilara O.
  surname: Halim
  fullname: Halim, Dilara O.
  organization: Frontotemporal Dementia Research Center, RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
– sequence: 2
  givenname: Gopinath
  surname: Krishnan
  fullname: Krishnan, Gopinath
  organization: Frontotemporal Dementia Research Center, RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
– sequence: 3
  givenname: Evan P.
  surname: Hass
  fullname: Hass, Evan P.
  organization: Department of Molecular, Cell, and Cancer Biology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
– sequence: 4
  givenname: Soojin
  surname: Lee
  fullname: Lee, Soojin
  organization: Frontotemporal Dementia Research Center, RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
– sequence: 5
  givenname: Mamta
  surname: Verma
  fullname: Verma, Mamta
  organization: Frontotemporal Dementia Research Center, RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
– sequence: 6
  givenname: Sandra
  surname: Almeida
  fullname: Almeida, Sandra
  organization: Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
– sequence: 7
  givenname: Yuanzheng
  surname: Gu
  fullname: Gu, Yuanzheng
  organization: Neuromuscular & Muscle Disorders, Biogen, Cambridge, MA 02142, USA
– sequence: 8
  givenname: Deborah Y.
  surname: Kwon
  fullname: Kwon, Deborah Y.
  organization: Neuromuscular & Muscle Disorders, Biogen, Cambridge, MA 02142, USA
– sequence: 9
  givenname: Thomas G.
  surname: Fazzio
  fullname: Fazzio, Thomas G.
  organization: Department of Molecular, Cell, and Cancer Biology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
– sequence: 10
  givenname: Fen-Biao
  orcidid: 0000-0001-8873-5404
  surname: Gao
  fullname: Gao, Fen-Biao
  email: fen-biao.gao@umassmed.edu
  organization: Frontotemporal Dementia Research Center, RNA Therapeutics Institute, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
BackLink https://www.ncbi.nlm.nih.gov/pubmed/38935506$$D View this record in MEDLINE/PubMed
BookMark eNp9kUFv1DAQhSNUREvpP0AoRy7Z2uM4iS-gKnRLpZVWgkXihOU4k61X2TjYTtX993hJqdoLc7Flv_mePe9tcjLYAZPkPSULSmhxuVto7B2OCyCQLyjNWclfJWcAlGYU8vLk2f40ufB-R2IVhFKRv0lOWSUY56Q4S35t7jDFB6sPPqR-aqbBhPT657qG1OF26lVAn4aoCfbBaBMOqe2iflRDi216E6uuo3JEFXxqhrQW62_LErKr1ffL5ebLu-R1p3qPF4_refJjeb2pv2ar9c1tfbXKNJQVyyqeC4BS0bbLETmtOKiCVTlyLuIPqWpFpzstQCNUnClQRJGKi5Y2DVRQsvPkdua2Vu3k6MxeuYO0ysi_B9ZtpXLB6B5l2wCiotBFWg6AiheUC066rulK0dDI-jyzxqnZY6txCE71L6AvbwZzJ7f2XlIKQnBgkfDxkeDs7wl9kHvjY2C9GtBOXjJSMmCEiqNZPku1s9477J58KJHHqOVOzlHLY9Ryjjq2fXj-xqemf8FGwadZgHHq9wad9NrgoLE1DnWIYzH_d_gD6da7GQ
Cites_doi 10.1073/pnas.1315438110
10.1038/ncb990
10.1074/jbc.M300155200
10.1523/JNEUROSCI.5469-08.2009
10.1002/0471142727.mb3101s107
10.26508/lsa.201800070
10.15252/embj.201797568
10.1038/373303a0
10.1186/2051-5960-1-68
10.1016/j.neuron.2013.07.033
10.1016/S0896-6273(03)00031-X
10.1126/science.1254917
10.1016/j.cell.2016.10.002
10.1038/nature14974
10.1016/j.celrep.2017.05.056
10.1016/j.neuron.2011.09.010
10.1016/S0076-6879(07)38022-1
10.1016/j.brainres.2016.04.004
10.1186/s40478-020-01036-y
10.1038/nn.4085
10.1007/s00401-017-1793-8
10.1038/nprot.2006.37
10.1016/j.molimm.2021.07.017
10.1016/j.neuron.2014.12.010
10.1038/s41467-022-30418-0
10.1084/jem.20192040
10.1006/dbio.1997.8727
10.1126/science.1232927
10.1038/ncomms7626
10.1073/pnas.1901313116
10.1016/j.neuron.2011.09.011
10.1016/j.neuron.2023.02.029
10.1007/s00439-023-02558-w
10.1016/j.neuron.2013.02.004
10.1186/s40478-018-0564-7
10.1016/S0968-0004(99)01416-4
10.1126/scitranslmed.3007529
10.1016/j.neuron.2016.09.015
10.1038/s41467-022-30387-4
10.1038/s41467-019-13477-8
10.1016/B978-0-12-801185-0.00008-8
10.1038/srep13632
10.1038/s41593-019-0397-0
10.1016/j.cell.2016.10.003
10.1007/s00401-017-1798-3
10.3389/fneur.2019.00291
10.1016/j.celrep.2019.01.019
10.1007/s00401-015-1448-6
10.1038/srep20877
10.1261/rna.2192803
10.1007/s00401-013-1200-z
10.1038/s41591-018-0071-1
10.1111/j.1600-0854.2012.01353.x
10.1371/journal.pone.0006529
ContentType Journal Article
Copyright 2024 The Author(s)
Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.
Copyright_xml – notice: 2024 The Author(s)
– notice: Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.
DBID 6I.
AAFTH
CGR
CUY
CVF
ECM
EIF
NPM
AAYXX
CITATION
7X8
5PM
DOA
DOI 10.1016/j.celrep.2024.114375
DatabaseName ScienceDirect Open Access Titles
Elsevier:ScienceDirect:Open Access
Medline
MEDLINE
MEDLINE (Ovid)
MEDLINE
MEDLINE
PubMed
CrossRef
MEDLINE - Academic
PubMed Central (Full Participant titles)
Directory of Open Access Journals
DatabaseTitle MEDLINE
Medline Complete
MEDLINE with Full Text
PubMed
MEDLINE (Ovid)
CrossRef
MEDLINE - Academic
DatabaseTitleList MEDLINE - Academic



MEDLINE
Database_xml – sequence: 1
  dbid: DOA
  name: Directory of Open Access Journals
  url: https://www.doaj.org/
  sourceTypes: Open Website
– sequence: 2
  dbid: NPM
  name: PubMed
  url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
  sourceTypes: Index Database
– sequence: 3
  dbid: EIF
  name: MEDLINE
  url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search
  sourceTypes: Index Database
DeliveryMethod fulltext_linktorsrc
Discipline Biology
EISSN 2211-1247
EndPage 114375
ExternalDocumentID oai_doaj_org_article_db2eea12f92c422ea5615950ffbf79b1
10_1016_j_celrep_2024_114375
38935506
S2211124724007034
Genre Journal Article
GroupedDBID 0R~
0SF
4.4
457
53G
5VS
6I.
AACTN
AAEDT
AAEDW
AAFTH
AAIKJ
AAKRW
AALRI
AAMRU
AAXUO
ABMAC
ACGFO
ACGFS
ADBBV
ADEZE
ADVLN
AENEX
AEXQZ
AFTJW
AGHFR
AITUG
AKRWK
ALMA_UNASSIGNED_HOLDINGS
AMRAJ
BAWUL
BCNDV
DIK
EBS
EJD
FCP
FDB
FRP
GROUPED_DOAJ
GX1
IXB
KQ8
M41
M48
NCXOZ
O-L
O9-
OK1
RCE
ROL
SSZ
CGR
CUY
CVF
ECM
EIF
NPM
AAYXX
CITATION
HZ~
IPNFZ
RIG
7X8
5PM
ID FETCH-LOGICAL-c2783-8549227a1df4ee51852a6384e5592021ad9fcfc92ce2853a2a0a0859d1bb28273
IEDL.DBID M48
ISSN 2211-1247
IngestDate Tue Oct 22 15:15:13 EDT 2024
Tue Aug 06 05:20:13 EDT 2024
Sat Oct 26 04:32:54 EDT 2024
Wed Oct 09 16:48:10 EDT 2024
Thu Oct 24 09:59:29 EDT 2024
Sat Oct 26 15:42:11 EDT 2024
IsDoiOpenAccess true
IsOpenAccess true
IsPeerReviewed true
IsScholarly true
Issue 7
Keywords CP: Cell biology
CP: Neuroscience
exocyst
DPR
FTD
iPSC
ALS
neurodegeneration
neuron
ASO
C9ORF72
poly(GR)
Language English
License This is an open access article under the CC BY-NC-ND license.
Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.
This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
LinkModel DirectLink
MergedId FETCHMERGED-LOGICAL-c2783-8549227a1df4ee51852a6384e5592021ad9fcfc92ce2853a2a0a0859d1bb28273
Notes ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
AUTHOR CONTRIBUTIONS
Project initiation, F.-B.G. and D.O.H.; conceptualization, F.-B.G. and D.O.H.; investigations, D.O.H., G.K., E.P.H., S.L., M.V., Y.G., and D.Y.K.; formal data analysis, D.O.H., G.K., E.P.H., S.L., S.A., T.G.F., and F.-B.G.; funding acquisition, F.-B.G. and T.G.F.; supervision, F.-B.G.; writing – original draft, D.O.H.; writing – review & editing, F.-B.G., D.O.H., G.K., S.A., S.L., and T.G.F.
ORCID 0000-0001-8873-5404
OpenAccessLink http://journals.scholarsportal.info/openUrl.xqy?doi=10.1016/j.celrep.2024.114375
PMID 38935506
PQID 3073230191
PQPubID 23479
PageCount 1
ParticipantIDs doaj_primary_oai_doaj_org_article_db2eea12f92c422ea5615950ffbf79b1
pubmedcentral_primary_oai_pubmedcentral_nih_gov_11299523
proquest_miscellaneous_3073230191
crossref_primary_10_1016_j_celrep_2024_114375
pubmed_primary_38935506
elsevier_sciencedirect_doi_10_1016_j_celrep_2024_114375
PublicationCentury 2000
PublicationDate 2024-Jul-23
PublicationDateYYYYMMDD 2024-07-23
PublicationDate_xml – month: 07
  year: 2024
  text: 2024-Jul-23
  day: 23
PublicationDecade 2020
PublicationPlace United States
PublicationPlace_xml – name: United States
PublicationTitle Cell reports (Cambridge)
PublicationTitleAlternate Cell Rep
PublicationYear 2024
Publisher Elsevier Inc
Elsevier
Publisher_xml – name: Elsevier Inc
– name: Elsevier
References Bork, Doerks, Springer, Snel (bib45) 1999; 24
Sans, Prybylowski, Petralia, Chang, Wang, Racca, Vicini, Wenthold (bib36) 2003; 5
Loveland, Svidritskiy, Susorov, Lee, Park, Zvornicanin, Demo, Gao, Korostelev (bib27) 2022; 13
Jovičić, Mertens, Boeynaems, Bogaert, Chai, Yamada, Paul, Sun, Herdy, Bieri (bib15) 2015; 18
Quaegebeur, Glaria, Lashley, Isaacs (bib11) 2020; 8
Almeida, Gascon, Tran, Chou, Gendron, Degroot, Tapper, Sellier, Charlet-Berguerand, Karydas (bib37) 2013; 126
Van Bergen, Ahmed, Collins, Cowley, Vetro, Dale, Hock, de Caestecker, Menezes, Massey (bib35) 2020; 217
Murthy, Garza, Scheller, Schwarz (bib34) 2003; 37
Trevino, Zhang (bib32) 2014; 546
Sakae, Bieniek, Zhang, Ross, Gendron, Murray, Rademakers, Petrucelli, Dickson (bib10) 2018; 6
Gao, Almeida, Lopez-Gonzalez (bib3) 2017; 36
Choi, Lopez-Gonzalez, Krishnan, Phillips, Li, Seeley, Yao, Almeida, Gao (bib19) 2019; 22
Yang, Abdallah, Li, Lu, Almeida, Gao (bib16) 2015; 130
Sasaki, Vohra, Lund, Milbrandt (bib53) 2009; 29
Duan, Lv, Liu, Pang, Li, Su, Gou (bib47) 2021; 138
Heider, Munson (bib28) 2012; 13
Hartmann, Hornburg, Czuppa, Bader, Michaelsen, Farny, Arzberger, Mann, Meissner, Edbauer (bib25) 2018; 1
Yin, Lopez-Gonzalez, Kunz, Gangopadhyay, Borufka, Gygi, Gao, Reed (bib24) 2017; 19
Sareen, O'Rourke, Meera, Muhammad, Grant, Simpkinson, Bell, Carmona, Ornelas, Sahabian (bib40) 2013; 5
Mizielinska, Lashley, Norona, Clayton, Ridler, Fratta, Isaacs (bib13) 2013; 126
Ghosh, van Duyne, Ghosh, Sigler (bib46) 1995; 373
Mann, Rollinson, Robinson, Bennion Callister, Thompson, Snowden, Gendron, Petrucelli, Masuda-Suzukake, Hasegawa (bib38) 2013; 1
Ash, Bieniek, Gendron, Caulfield, Lin, Dejesus-Hernandez, van Blitterswijk, Jansen-West, Paul, Rademakers (bib7) 2013; 77
Zu, Liu, Bañez-Coronel, Reid, Pletnikova, Lewis, Miller, Harms, Falchook, Subramony (bib8) 2013; 110
Friedrich, Hildebrand, Soriano (bib48) 1997; 192
Zhang, Gendron, Ebbert, O'Raw, Yue, Jansen-West, Zhang, Prudencio, Chew, Cook (bib18) 2018; 24
Lee, Jun, Linares, Butler, Yuva-Adyemir, Moore, Krishnan, Ruiz-Juarez, Santana, Pons (bib50) 2023; 111
Ling, Polymenidou, Cleveland (bib1) 2013; 79
Wen, Tan, Westergard, Krishnamurthy, Markandaiah, Shi, Lin, Shneider, Monaghan, Pandey (bib14) 2014; 84
Gitler, Tsuiji (bib2) 2016; 1647
Halim, Munson, Gao (bib30) 2023; 142
Yuva-Aydemir, Almeida, Krishnan, Gendron, Gao (bib31) 2019; 10
Tiscornia, Singer, Verma (bib54) 2006; 1
Mott, Nietlispach, Hopkins, Mirey, Camonis, Owen (bib44) 2003; 278
Lin, Mori, Kato, Xiang, Wu, Kwon, McKnight (bib22) 2016; 167
Zhang, Almeida, Lu, Nishimura, Peng, Sun, Wu, Karydas, Tartaglia, Fong (bib55) 2013; 8
Freibaum, Lu, Lopez-Gonzalez, Kim, Almeida, Lee, Badders, Valentine, Miller, Wong (bib56) 2015; 525
Verber, Shepheard, Sassani, McDonough, Moore, Alix, Wilkinson, Jenkins, Shaw (bib42) 2019; 10
Campeau, Ruhl, Rodier, Smith, Rahmberg, Fuss, Campisi, Yaswen, Cooper, Kaufman (bib58) 2009; 4
Lopez-Gonzalez, Lu, Gendron, Karydas, Tran, Yang, Petrucelli, Miller, Almeida, Gao (bib17) 2016; 92
Yang, Yang, Byrne, Pan, Church (bib33) 2014; 107
Witzel, Mayer, Oeckl (bib43) 2022; 35
Chien, White (bib51) 2008; 438
DeJesus-Hernandez, Mackenzie, Boeve, Boxer, Baker, Rutherford, Nicholson, Finch, Flynn, Adamson (bib4) 2011; 72
Lee, Zhang, Kim, Mitrea, Sarkar, Freibaum, Cika, Coughlin, Messing, Molliex (bib20) 2016; 167
Saberi, Stauffer, Jiang, Garcia, Taylor, Schulte, Ohkubo, Schloffman, Maldonado, Baughn (bib9) 2018; 135
Kwon, Xiang, Kato, Wu, Theodoropoulos, Wang, Kim, Yun, Xie, McKnight (bib12) 2014; 345
Mizuno, Takami, Daitoku, Tanimoto, Dinh, Mizuno-Iijima, Hasegawa, Takahashi, Sugiyama, Yagami (bib49) 2015; 5
Renton, Majounie, Waite, Simón-Sánchez, Rollinson, Gibbs, Schymick, Laaksovirta, van Swieten, Myllykangas (bib5) 2011; 72
Mori, Weng, Arzberger, May, Rentzsch, Kremmer, Schmid, Kretzschmar, Cruts, Van Broeckhoven (bib6) 2013; 339
Krishnan, Raitcheva, Bartlett, Prudencio, McKenna-Yasek, Douthwright, Oskarsson, Ladha, King, Barmada (bib39) 2022; 13
Wu, Guo (bib29) 2015; 128
Du, Chen, Liu, Lu, Qian, Huang, Zhong, Fan, Zhang (bib52) 2015; 6
Lopez-Gonzalez, Yang, Pribadi, Kim, Krishnan, Choi, Lee, Coppola, Gao (bib21) 2019; 116
Boeynaems, Bogaert, Michiels, Gijselinck, Sieben, Jovičić, De Baets, Scheveneels, Steyaert, Cuijt (bib23) 2016; 6
Stewart, Dykxhoorn, Palliser, Mizuno, Yu, An, Sabatini, Chen, Hahn, Sharp (bib57) 2003; 9
Moens, Mizielinska, Niccoli, Mitchell, Thoeng, Ridler, Grönke, Esser, Heslegrave, Zetterberg (bib26) 2018; 135
Wu, Watts, Rubin (bib41) 2019; 26
Ling (10.1016/j.celrep.2024.114375_bib1) 2013; 79
Lee (10.1016/j.celrep.2024.114375_bib20) 2016; 167
Gao (10.1016/j.celrep.2024.114375_bib3) 2017; 36
Quaegebeur (10.1016/j.celrep.2024.114375_bib11) 2020; 8
Sasaki (10.1016/j.celrep.2024.114375_bib53) 2009; 29
Saberi (10.1016/j.celrep.2024.114375_bib9) 2018; 135
Yang (10.1016/j.celrep.2024.114375_bib16) 2015; 130
Almeida (10.1016/j.celrep.2024.114375_bib37) 2013; 126
Lin (10.1016/j.celrep.2024.114375_bib22) 2016; 167
Tiscornia (10.1016/j.celrep.2024.114375_bib54) 2006; 1
Boeynaems (10.1016/j.celrep.2024.114375_bib23) 2016; 6
Murthy (10.1016/j.celrep.2024.114375_bib34) 2003; 37
Mott (10.1016/j.celrep.2024.114375_bib44) 2003; 278
Wen (10.1016/j.celrep.2024.114375_bib14) 2014; 84
Krishnan (10.1016/j.celrep.2024.114375_bib39) 2022; 13
Mizuno (10.1016/j.celrep.2024.114375_bib49) 2015; 5
Jovičić (10.1016/j.celrep.2024.114375_bib15) 2015; 18
Sareen (10.1016/j.celrep.2024.114375_bib40) 2013; 5
Verber (10.1016/j.celrep.2024.114375_bib42) 2019; 10
Trevino (10.1016/j.celrep.2024.114375_bib32) 2014; 546
Zhang (10.1016/j.celrep.2024.114375_bib18) 2018; 24
Freibaum (10.1016/j.celrep.2024.114375_bib56) 2015; 525
Wu (10.1016/j.celrep.2024.114375_bib29) 2015; 128
Duan (10.1016/j.celrep.2024.114375_bib47) 2021; 138
Mann (10.1016/j.celrep.2024.114375_bib38) 2013; 1
Lopez-Gonzalez (10.1016/j.celrep.2024.114375_bib21) 2019; 116
Zhang (10.1016/j.celrep.2024.114375_bib55) 2013; 8
Campeau (10.1016/j.celrep.2024.114375_bib58) 2009; 4
Sakae (10.1016/j.celrep.2024.114375_bib10) 2018; 6
Mori (10.1016/j.celrep.2024.114375_bib6) 2013; 339
Du (10.1016/j.celrep.2024.114375_bib52) 2015; 6
Witzel (10.1016/j.celrep.2024.114375_bib43) 2022; 35
Mizielinska (10.1016/j.celrep.2024.114375_bib13) 2013; 126
Yin (10.1016/j.celrep.2024.114375_bib24) 2017; 19
Wu (10.1016/j.celrep.2024.114375_bib41) 2019; 26
Ghosh (10.1016/j.celrep.2024.114375_bib46) 1995; 373
DeJesus-Hernandez (10.1016/j.celrep.2024.114375_bib4) 2011; 72
Heider (10.1016/j.celrep.2024.114375_bib28) 2012; 13
Van Bergen (10.1016/j.celrep.2024.114375_bib35) 2020; 217
Yuva-Aydemir (10.1016/j.celrep.2024.114375_bib31) 2019; 10
Loveland (10.1016/j.celrep.2024.114375_bib27) 2022; 13
Yang (10.1016/j.celrep.2024.114375_bib33) 2014; 107
Gitler (10.1016/j.celrep.2024.114375_bib2) 2016; 1647
Hartmann (10.1016/j.celrep.2024.114375_bib25) 2018; 1
Stewart (10.1016/j.celrep.2024.114375_bib57) 2003; 9
Halim (10.1016/j.celrep.2024.114375_bib30) 2023; 142
Sans (10.1016/j.celrep.2024.114375_bib36) 2003; 5
Bork (10.1016/j.celrep.2024.114375_bib45) 1999; 24
Chien (10.1016/j.celrep.2024.114375_bib51) 2008; 438
Zu (10.1016/j.celrep.2024.114375_bib8) 2013; 110
Renton (10.1016/j.celrep.2024.114375_bib5) 2011; 72
Lopez-Gonzalez (10.1016/j.celrep.2024.114375_bib17) 2016; 92
Choi (10.1016/j.celrep.2024.114375_bib19) 2019; 22
Moens (10.1016/j.celrep.2024.114375_bib26) 2018; 135
Ash (10.1016/j.celrep.2024.114375_bib7) 2013; 77
Friedrich (10.1016/j.celrep.2024.114375_bib48) 1997; 192
Kwon (10.1016/j.celrep.2024.114375_bib12) 2014; 345
Lee (10.1016/j.celrep.2024.114375_bib50) 2023; 111
References_xml – volume: 72
  start-page: 245
  year: 2011
  end-page: 256
  ident: bib4
  article-title: Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
  publication-title: Neuron
  contributor:
    fullname: Adamson
– volume: 72
  start-page: 257
  year: 2011
  end-page: 268
  ident: bib5
  article-title: A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
  publication-title: Neuron
  contributor:
    fullname: Myllykangas
– volume: 126
  start-page: 845
  year: 2013
  end-page: 857
  ident: bib13
  article-title: C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
  publication-title: Acta Neuropathol.
  contributor:
    fullname: Isaacs
– volume: 339
  start-page: 1335
  year: 2013
  end-page: 1338
  ident: bib6
  article-title: The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
  publication-title: Science
  contributor:
    fullname: Van Broeckhoven
– volume: 116
  start-page: 9628
  year: 2019
  end-page: 9633
  ident: bib21
  article-title: Partial inhibition of the overactivated Ku80-dependent DNA repair pathway rescues neurodegeneration in C9ORF72-ALS/FTD
  publication-title: Proc. Natl. Acad. Sci. USA
  contributor:
    fullname: Gao
– volume: 22
  start-page: 851
  year: 2019
  end-page: 862
  ident: bib19
  article-title: C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo
  publication-title: Nat. Neurosci.
  contributor:
    fullname: Gao
– volume: 135
  start-page: 445
  year: 2018
  end-page: 457
  ident: bib26
  article-title: Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD
  publication-title: Acta Neuropathol.
  contributor:
    fullname: Zetterberg
– volume: 107
  start-page: 31.1.1
  year: 2014
  end-page: 31.1.17
  ident: bib33
  article-title: CRISPR/Cas9-directed genome editing of cultured cells
  publication-title: Curr. Protoc. Mol. Biol.
  contributor:
    fullname: Church
– volume: 142
  start-page: 1263
  year: 2023
  end-page: 1270
  ident: bib30
  article-title: The exocyst complex in neurological disorders
  publication-title: Hum. Genet.
  contributor:
    fullname: Gao
– volume: 18
  start-page: 1226
  year: 2015
  end-page: 1229
  ident: bib15
  article-title: Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS
  publication-title: Nat. Neurosci.
  contributor:
    fullname: Bieri
– volume: 35
  start-page: 699
  year: 2022
  end-page: 704
  ident: bib43
  article-title: Biomarkers for amyotrophic lateral sclerosis
  publication-title: Curr. Opin. Neurol.
  contributor:
    fullname: Oeckl
– volume: 4
  year: 2009
  ident: bib58
  article-title: A versatile viral system for expression and depletion of proteins in mammalian cells
  publication-title: PLoS One
  contributor:
    fullname: Kaufman
– volume: 24
  start-page: 261
  year: 1999
  end-page: 263
  ident: bib45
  article-title: Domains in plexins: links to integrins and transcription factors
  publication-title: Trends Biochem. Sci.
  contributor:
    fullname: Snel
– volume: 8
  year: 2013
  ident: bib55
  article-title: Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations
  publication-title: PLoS One
  contributor:
    fullname: Fong
– volume: 36
  start-page: 2931
  year: 2017
  end-page: 2950
  ident: bib3
  article-title: Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder
  publication-title: EMBO J.
  contributor:
    fullname: Lopez-Gonzalez
– volume: 438
  start-page: 321
  year: 2008
  end-page: 329
  ident: bib51
  article-title: Characterization of RalB-Sec5-TBK1 function in human oncogenesis
  publication-title: Methods Enzymol.
  contributor:
    fullname: White
– volume: 5
  start-page: 520
  year: 2003
  end-page: 530
  ident: bib36
  article-title: NMDA receptor trafficking through an interaction between PDZ proteins and the exocyst complex
  publication-title: Nat. Cell Biol.
  contributor:
    fullname: Wenthold
– volume: 5
  year: 2015
  ident: bib49
  article-title: Peri-implantation lethality in mice carrying megabasescale deletion on 5qc3.3 is caused by Exoc1 null mutation
  publication-title: Sci. Rep.
  contributor:
    fullname: Yagami
– volume: 111
  start-page: 1381
  year: 2023
  end-page: 1390.e6
  ident: bib50
  article-title: Downregulation of Hsp90 and the antimicrobial peptide Mtk suppresses poly(GR)-induced neurotoxicity in C9ORF72-ALS/FTD
  publication-title: Neuron
  contributor:
    fullname: Pons
– volume: 13
  start-page: 2799
  year: 2022
  ident: bib39
  article-title: Poly(GR) and poly(GA) in cerebrospinal fluid as potential biomarkers for C9ORF72-ALS/FTD
  publication-title: Nat. Commun.
  contributor:
    fullname: Barmada
– volume: 10
  start-page: 291
  year: 2019
  ident: bib42
  article-title: Biomarkers in Motor Neuron Disease: A State of the Art Review
  publication-title: Front. Neurol.
  contributor:
    fullname: Shaw
– volume: 138
  start-page: 38
  year: 2021
  end-page: 47
  ident: bib47
  article-title: Identification and evolution of transcription factors RHR gene family (NFAT and RBPJ) involving lamprey (Lethenteron reissneri) innate immunity
  publication-title: Mol. Immunol.
  contributor:
    fullname: Gou
– volume: 110
  start-page: 4968
  year: 2013
  end-page: 4977
  ident: bib8
  article-title: RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
  publication-title: Proc. Natl. Acad. Sci. USA
  contributor:
    fullname: Subramony
– volume: 546
  start-page: 161
  year: 2014
  end-page: 174
  ident: bib32
  article-title: Genome editing using cas9 nickases
  publication-title: Methods Enzymol.
  contributor:
    fullname: Zhang
– volume: 1
  start-page: 241
  year: 2006
  end-page: 245
  ident: bib54
  article-title: Production and purification of lentiviral vectors
  publication-title: Nat. Protoc.
  contributor:
    fullname: Verma
– volume: 29
  start-page: 5525
  year: 2009
  end-page: 5535
  ident: bib53
  article-title: Nicotinamide mononucleotide adenylyl transferase-mediated axonal protection requires enzymatic activity but not increased levels of neuronal nicotinamide adenine dinucleotide
  publication-title: J. Neurosci.
  contributor:
    fullname: Milbrandt
– volume: 525
  start-page: 129
  year: 2015
  end-page: 133
  ident: bib56
  article-title: GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport
  publication-title: Nature
  contributor:
    fullname: Wong
– volume: 167
  start-page: 789
  year: 2016
  end-page: 802.e12
  ident: bib22
  article-title: Toxic PR poly-dipeptides encoded by the C9orf72 repeat expansion target LC domain polymers
  publication-title: Cell
  contributor:
    fullname: McKnight
– volume: 9
  start-page: 493
  year: 2003
  end-page: 501
  ident: bib57
  article-title: Lentivirus-delivered stable gene silencing by RNAi in primary cells
  publication-title: RNA
  contributor:
    fullname: Sharp
– volume: 77
  start-page: 639
  year: 2013
  end-page: 646
  ident: bib7
  article-title: Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
  publication-title: Neuron
  contributor:
    fullname: Rademakers
– volume: 130
  start-page: 525
  year: 2015
  end-page: 535
  ident: bib16
  article-title: FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions
  publication-title: Acta Neuropathol.
  contributor:
    fullname: Gao
– volume: 13
  start-page: 898
  year: 2012
  end-page: 907
  ident: bib28
  article-title: Exorcising the exocyst complex
  publication-title: Traffic
  contributor:
    fullname: Munson
– volume: 1
  year: 2018
  ident: bib25
  article-title: Proteomics and C9orf72 neuropathology identify ribosomes as poly-GR/PR interactors driving toxicity
  publication-title: Life Sci. Alliance
  contributor:
    fullname: Edbauer
– volume: 192
  start-page: 364
  year: 1997
  end-page: 374
  ident: bib48
  article-title: The secretory protein sec8 Is required for paraxial mesoderm formation in the mouse
  publication-title: Dev. Biol.
  contributor:
    fullname: Soriano
– volume: 8
  start-page: 184
  year: 2020
  ident: bib11
  article-title: Soluble and insoluble dipeptide repeat protein measurements in C9orf72-frontotemporal dementia brains show regional differential solubility and correlation of poly-GR with clinical severity
  publication-title: Acta Neuropathol. Commun.
  contributor:
    fullname: Isaacs
– volume: 6
  start-page: 63
  year: 2018
  ident: bib10
  article-title: Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease
  publication-title: Acta Neuropathol. Commun.
  contributor:
    fullname: Dickson
– volume: 37
  start-page: 433
  year: 2003
  end-page: 447
  ident: bib34
  article-title: Mutations in the exocyst component Sec5 disrupt neuronal membrane traffic, but neurotransmitter release persists
  publication-title: Neuron
  contributor:
    fullname: Schwarz
– volume: 217
  year: 2020
  ident: bib35
  article-title: Mutations in the exocyst component EXOC2 cause severe defects in human brain development
  publication-title: J. Exp. Med.
  contributor:
    fullname: Massey
– volume: 84
  start-page: 1213
  year: 2014
  end-page: 1225
  ident: bib14
  article-title: Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death
  publication-title: Neuron
  contributor:
    fullname: Pandey
– volume: 373
  start-page: 303
  year: 1995
  end-page: 310
  ident: bib46
  article-title: Structure of NF-kappa B p50 homodimer bound to a kappa B site
  publication-title: Nature
  contributor:
    fullname: Sigler
– volume: 6
  year: 2016
  ident: bib23
  article-title: Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD
  publication-title: Sci. Rep.
  contributor:
    fullname: Cuijt
– volume: 1647
  start-page: 19
  year: 2016
  end-page: 29
  ident: bib2
  article-title: There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS
  publication-title: Brain Res.
  contributor:
    fullname: Tsuiji
– volume: 6
  start-page: 6626
  year: 2015
  ident: bib52
  article-title: Generation and expansion of highly pure motor neuron progenitors from human pluripotent stem cells
  publication-title: Nat. Commun.
  contributor:
    fullname: Zhang
– volume: 92
  start-page: 383
  year: 2016
  end-page: 391
  ident: bib17
  article-title: Poly(GR) in C9ORF72-related ALS/FTD compromises mitochondrial function and increases oxidative stress and DNA damage in iPSC-derived motor neurons
  publication-title: Neuron
  contributor:
    fullname: Gao
– volume: 13
  start-page: 2776
  year: 2022
  ident: bib27
  article-title: Ribosome inhibition by C9ORF72-ALS/FTD-associated poly-PR and poly-GR proteins revealed by cryo-EM
  publication-title: Nat. Commun.
  contributor:
    fullname: Korostelev
– volume: 1
  start-page: 68
  year: 2013
  ident: bib38
  article-title: Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72
  publication-title: Acta Neuropathol. Commun.
  contributor:
    fullname: Hasegawa
– volume: 128
  start-page: 2957
  year: 2015
  end-page: 2964
  ident: bib29
  article-title: The exocyst at a glance
  publication-title: J. Cell Sci.
  contributor:
    fullname: Guo
– volume: 19
  start-page: 2244
  year: 2017
  end-page: 2256
  ident: bib24
  article-title: Evidence that C9ORF72 dipeptide repeat proteins associate with U2 snRNP to cause mis-splicing in ALS/FTD patients
  publication-title: Cell Rep.
  contributor:
    fullname: Reed
– volume: 26
  start-page: 1143
  year: 2019
  end-page: 1156.e5
  ident: bib41
  article-title: MAP4K4 activation mediates motor neuron degeneration in amyotrophic lateral sclerosis
  publication-title: Cell Rep.
  contributor:
    fullname: Rubin
– volume: 126
  start-page: 385
  year: 2013
  end-page: 399
  ident: bib37
  article-title: Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
  publication-title: Acta Neuropathol.
  contributor:
    fullname: Karydas
– volume: 24
  start-page: 1136
  year: 2018
  end-page: 1142
  ident: bib18
  article-title: Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis
  publication-title: Nat. Med.
  contributor:
    fullname: Cook
– volume: 10
  start-page: 5466
  year: 2019
  ident: bib31
  article-title: Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD
  publication-title: Nat. Commun.
  contributor:
    fullname: Gao
– volume: 345
  start-page: 1139
  year: 2014
  end-page: 1145
  ident: bib12
  article-title: Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells
  publication-title: Science
  contributor:
    fullname: McKnight
– volume: 278
  start-page: 17053
  year: 2003
  end-page: 17059
  ident: bib44
  article-title: Structure of the GTPase-binding domain of Sec5 and elucidation of its Ral binding site
  publication-title: J. Biol. Chem.
  contributor:
    fullname: Owen
– volume: 79
  start-page: 416
  year: 2013
  end-page: 438
  ident: bib1
  article-title: Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis
  publication-title: Neuron
  contributor:
    fullname: Cleveland
– volume: 135
  start-page: 459
  year: 2018
  end-page: 474
  ident: bib9
  article-title: Sense-encoded poly-GR dipeptide repeat proteins correlate to neurodegeneration and uniquely co-localize with TDP-43 in dendrites of repeat-expanded C9orf72 amyotrophic lateral sclerosis
  publication-title: Acta Neuropathol.
  contributor:
    fullname: Baughn
– volume: 5
  year: 2013
  ident: bib40
  article-title: Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion
  publication-title: Sci. Transl. Med.
  contributor:
    fullname: Sahabian
– volume: 167
  start-page: 774
  year: 2016
  end-page: 788.e17
  ident: bib20
  article-title: C9orf72 dipeptide repeats impair the assembly, dynamics, and function of membrane-less organelles
  publication-title: Cell
  contributor:
    fullname: Molliex
– volume: 110
  start-page: 4968
  year: 2013
  ident: 10.1016/j.celrep.2024.114375_bib8
  article-title: RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
  publication-title: Proc. Natl. Acad. Sci. USA
  doi: 10.1073/pnas.1315438110
  contributor:
    fullname: Zu
– volume: 5
  start-page: 520
  year: 2003
  ident: 10.1016/j.celrep.2024.114375_bib36
  article-title: NMDA receptor trafficking through an interaction between PDZ proteins and the exocyst complex
  publication-title: Nat. Cell Biol.
  doi: 10.1038/ncb990
  contributor:
    fullname: Sans
– volume: 278
  start-page: 17053
  year: 2003
  ident: 10.1016/j.celrep.2024.114375_bib44
  article-title: Structure of the GTPase-binding domain of Sec5 and elucidation of its Ral binding site
  publication-title: J. Biol. Chem.
  doi: 10.1074/jbc.M300155200
  contributor:
    fullname: Mott
– volume: 29
  start-page: 5525
  year: 2009
  ident: 10.1016/j.celrep.2024.114375_bib53
  article-title: Nicotinamide mononucleotide adenylyl transferase-mediated axonal protection requires enzymatic activity but not increased levels of neuronal nicotinamide adenine dinucleotide
  publication-title: J. Neurosci.
  doi: 10.1523/JNEUROSCI.5469-08.2009
  contributor:
    fullname: Sasaki
– volume: 107
  start-page: 31.1.1
  year: 2014
  ident: 10.1016/j.celrep.2024.114375_bib33
  article-title: CRISPR/Cas9-directed genome editing of cultured cells
  publication-title: Curr. Protoc. Mol. Biol.
  doi: 10.1002/0471142727.mb3101s107
  contributor:
    fullname: Yang
– volume: 1
  year: 2018
  ident: 10.1016/j.celrep.2024.114375_bib25
  article-title: Proteomics and C9orf72 neuropathology identify ribosomes as poly-GR/PR interactors driving toxicity
  publication-title: Life Sci. Alliance
  doi: 10.26508/lsa.201800070
  contributor:
    fullname: Hartmann
– volume: 36
  start-page: 2931
  year: 2017
  ident: 10.1016/j.celrep.2024.114375_bib3
  article-title: Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder
  publication-title: EMBO J.
  doi: 10.15252/embj.201797568
  contributor:
    fullname: Gao
– volume: 373
  start-page: 303
  year: 1995
  ident: 10.1016/j.celrep.2024.114375_bib46
  article-title: Structure of NF-kappa B p50 homodimer bound to a kappa B site
  publication-title: Nature
  doi: 10.1038/373303a0
  contributor:
    fullname: Ghosh
– volume: 1
  start-page: 68
  year: 2013
  ident: 10.1016/j.celrep.2024.114375_bib38
  article-title: Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72
  publication-title: Acta Neuropathol. Commun.
  doi: 10.1186/2051-5960-1-68
  contributor:
    fullname: Mann
– volume: 79
  start-page: 416
  year: 2013
  ident: 10.1016/j.celrep.2024.114375_bib1
  article-title: Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis
  publication-title: Neuron
  doi: 10.1016/j.neuron.2013.07.033
  contributor:
    fullname: Ling
– volume: 37
  start-page: 433
  year: 2003
  ident: 10.1016/j.celrep.2024.114375_bib34
  article-title: Mutations in the exocyst component Sec5 disrupt neuronal membrane traffic, but neurotransmitter release persists
  publication-title: Neuron
  doi: 10.1016/S0896-6273(03)00031-X
  contributor:
    fullname: Murthy
– volume: 345
  start-page: 1139
  year: 2014
  ident: 10.1016/j.celrep.2024.114375_bib12
  article-title: Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells
  publication-title: Science
  doi: 10.1126/science.1254917
  contributor:
    fullname: Kwon
– volume: 167
  start-page: 774
  year: 2016
  ident: 10.1016/j.celrep.2024.114375_bib20
  article-title: C9orf72 dipeptide repeats impair the assembly, dynamics, and function of membrane-less organelles
  publication-title: Cell
  doi: 10.1016/j.cell.2016.10.002
  contributor:
    fullname: Lee
– volume: 525
  start-page: 129
  year: 2015
  ident: 10.1016/j.celrep.2024.114375_bib56
  article-title: GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport
  publication-title: Nature
  doi: 10.1038/nature14974
  contributor:
    fullname: Freibaum
– volume: 19
  start-page: 2244
  year: 2017
  ident: 10.1016/j.celrep.2024.114375_bib24
  article-title: Evidence that C9ORF72 dipeptide repeat proteins associate with U2 snRNP to cause mis-splicing in ALS/FTD patients
  publication-title: Cell Rep.
  doi: 10.1016/j.celrep.2017.05.056
  contributor:
    fullname: Yin
– volume: 72
  start-page: 257
  year: 2011
  ident: 10.1016/j.celrep.2024.114375_bib5
  article-title: A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
  publication-title: Neuron
  doi: 10.1016/j.neuron.2011.09.010
  contributor:
    fullname: Renton
– volume: 438
  start-page: 321
  year: 2008
  ident: 10.1016/j.celrep.2024.114375_bib51
  article-title: Characterization of RalB-Sec5-TBK1 function in human oncogenesis
  publication-title: Methods Enzymol.
  doi: 10.1016/S0076-6879(07)38022-1
  contributor:
    fullname: Chien
– volume: 1647
  start-page: 19
  year: 2016
  ident: 10.1016/j.celrep.2024.114375_bib2
  article-title: There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS
  publication-title: Brain Res.
  doi: 10.1016/j.brainres.2016.04.004
  contributor:
    fullname: Gitler
– volume: 8
  start-page: 184
  year: 2020
  ident: 10.1016/j.celrep.2024.114375_bib11
  article-title: Soluble and insoluble dipeptide repeat protein measurements in C9orf72-frontotemporal dementia brains show regional differential solubility and correlation of poly-GR with clinical severity
  publication-title: Acta Neuropathol. Commun.
  doi: 10.1186/s40478-020-01036-y
  contributor:
    fullname: Quaegebeur
– volume: 18
  start-page: 1226
  year: 2015
  ident: 10.1016/j.celrep.2024.114375_bib15
  article-title: Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS
  publication-title: Nat. Neurosci.
  doi: 10.1038/nn.4085
  contributor:
    fullname: Jovičić
– volume: 135
  start-page: 459
  year: 2018
  ident: 10.1016/j.celrep.2024.114375_bib9
  article-title: Sense-encoded poly-GR dipeptide repeat proteins correlate to neurodegeneration and uniquely co-localize with TDP-43 in dendrites of repeat-expanded C9orf72 amyotrophic lateral sclerosis
  publication-title: Acta Neuropathol.
  doi: 10.1007/s00401-017-1793-8
  contributor:
    fullname: Saberi
– volume: 1
  start-page: 241
  year: 2006
  ident: 10.1016/j.celrep.2024.114375_bib54
  article-title: Production and purification of lentiviral vectors
  publication-title: Nat. Protoc.
  doi: 10.1038/nprot.2006.37
  contributor:
    fullname: Tiscornia
– volume: 138
  start-page: 38
  year: 2021
  ident: 10.1016/j.celrep.2024.114375_bib47
  article-title: Identification and evolution of transcription factors RHR gene family (NFAT and RBPJ) involving lamprey (Lethenteron reissneri) innate immunity
  publication-title: Mol. Immunol.
  doi: 10.1016/j.molimm.2021.07.017
  contributor:
    fullname: Duan
– volume: 84
  start-page: 1213
  year: 2014
  ident: 10.1016/j.celrep.2024.114375_bib14
  article-title: Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death
  publication-title: Neuron
  doi: 10.1016/j.neuron.2014.12.010
  contributor:
    fullname: Wen
– volume: 13
  start-page: 2776
  year: 2022
  ident: 10.1016/j.celrep.2024.114375_bib27
  article-title: Ribosome inhibition by C9ORF72-ALS/FTD-associated poly-PR and poly-GR proteins revealed by cryo-EM
  publication-title: Nat. Commun.
  doi: 10.1038/s41467-022-30418-0
  contributor:
    fullname: Loveland
– volume: 217
  year: 2020
  ident: 10.1016/j.celrep.2024.114375_bib35
  article-title: Mutations in the exocyst component EXOC2 cause severe defects in human brain development
  publication-title: J. Exp. Med.
  doi: 10.1084/jem.20192040
  contributor:
    fullname: Van Bergen
– volume: 192
  start-page: 364
  year: 1997
  ident: 10.1016/j.celrep.2024.114375_bib48
  article-title: The secretory protein sec8 Is required for paraxial mesoderm formation in the mouse
  publication-title: Dev. Biol.
  doi: 10.1006/dbio.1997.8727
  contributor:
    fullname: Friedrich
– volume: 339
  start-page: 1335
  year: 2013
  ident: 10.1016/j.celrep.2024.114375_bib6
  article-title: The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
  publication-title: Science
  doi: 10.1126/science.1232927
  contributor:
    fullname: Mori
– volume: 6
  start-page: 6626
  year: 2015
  ident: 10.1016/j.celrep.2024.114375_bib52
  article-title: Generation and expansion of highly pure motor neuron progenitors from human pluripotent stem cells
  publication-title: Nat. Commun.
  doi: 10.1038/ncomms7626
  contributor:
    fullname: Du
– volume: 116
  start-page: 9628
  year: 2019
  ident: 10.1016/j.celrep.2024.114375_bib21
  article-title: Partial inhibition of the overactivated Ku80-dependent DNA repair pathway rescues neurodegeneration in C9ORF72-ALS/FTD
  publication-title: Proc. Natl. Acad. Sci. USA
  doi: 10.1073/pnas.1901313116
  contributor:
    fullname: Lopez-Gonzalez
– volume: 8
  year: 2013
  ident: 10.1016/j.celrep.2024.114375_bib55
  article-title: Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations
  publication-title: PLoS One
  contributor:
    fullname: Zhang
– volume: 35
  start-page: 699
  year: 2022
  ident: 10.1016/j.celrep.2024.114375_bib43
  article-title: Biomarkers for amyotrophic lateral sclerosis
  publication-title: Curr. Opin. Neurol.
  contributor:
    fullname: Witzel
– volume: 72
  start-page: 245
  year: 2011
  ident: 10.1016/j.celrep.2024.114375_bib4
  article-title: Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
  publication-title: Neuron
  doi: 10.1016/j.neuron.2011.09.011
  contributor:
    fullname: DeJesus-Hernandez
– volume: 111
  start-page: 1381
  year: 2023
  ident: 10.1016/j.celrep.2024.114375_bib50
  article-title: Downregulation of Hsp90 and the antimicrobial peptide Mtk suppresses poly(GR)-induced neurotoxicity in C9ORF72-ALS/FTD
  publication-title: Neuron
  doi: 10.1016/j.neuron.2023.02.029
  contributor:
    fullname: Lee
– volume: 142
  start-page: 1263
  year: 2023
  ident: 10.1016/j.celrep.2024.114375_bib30
  article-title: The exocyst complex in neurological disorders
  publication-title: Hum. Genet.
  doi: 10.1007/s00439-023-02558-w
  contributor:
    fullname: Halim
– volume: 77
  start-page: 639
  year: 2013
  ident: 10.1016/j.celrep.2024.114375_bib7
  article-title: Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
  publication-title: Neuron
  doi: 10.1016/j.neuron.2013.02.004
  contributor:
    fullname: Ash
– volume: 6
  start-page: 63
  year: 2018
  ident: 10.1016/j.celrep.2024.114375_bib10
  article-title: Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease
  publication-title: Acta Neuropathol. Commun.
  doi: 10.1186/s40478-018-0564-7
  contributor:
    fullname: Sakae
– volume: 24
  start-page: 261
  year: 1999
  ident: 10.1016/j.celrep.2024.114375_bib45
  article-title: Domains in plexins: links to integrins and transcription factors
  publication-title: Trends Biochem. Sci.
  doi: 10.1016/S0968-0004(99)01416-4
  contributor:
    fullname: Bork
– volume: 5
  year: 2013
  ident: 10.1016/j.celrep.2024.114375_bib40
  article-title: Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion
  publication-title: Sci. Transl. Med.
  doi: 10.1126/scitranslmed.3007529
  contributor:
    fullname: Sareen
– volume: 92
  start-page: 383
  year: 2016
  ident: 10.1016/j.celrep.2024.114375_bib17
  article-title: Poly(GR) in C9ORF72-related ALS/FTD compromises mitochondrial function and increases oxidative stress and DNA damage in iPSC-derived motor neurons
  publication-title: Neuron
  doi: 10.1016/j.neuron.2016.09.015
  contributor:
    fullname: Lopez-Gonzalez
– volume: 13
  start-page: 2799
  year: 2022
  ident: 10.1016/j.celrep.2024.114375_bib39
  article-title: Poly(GR) and poly(GA) in cerebrospinal fluid as potential biomarkers for C9ORF72-ALS/FTD
  publication-title: Nat. Commun.
  doi: 10.1038/s41467-022-30387-4
  contributor:
    fullname: Krishnan
– volume: 10
  start-page: 5466
  year: 2019
  ident: 10.1016/j.celrep.2024.114375_bib31
  article-title: Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD
  publication-title: Nat. Commun.
  doi: 10.1038/s41467-019-13477-8
  contributor:
    fullname: Yuva-Aydemir
– volume: 546
  start-page: 161
  year: 2014
  ident: 10.1016/j.celrep.2024.114375_bib32
  article-title: Genome editing using cas9 nickases
  publication-title: Methods Enzymol.
  doi: 10.1016/B978-0-12-801185-0.00008-8
  contributor:
    fullname: Trevino
– volume: 5
  year: 2015
  ident: 10.1016/j.celrep.2024.114375_bib49
  article-title: Peri-implantation lethality in mice carrying megabasescale deletion on 5qc3.3 is caused by Exoc1 null mutation
  publication-title: Sci. Rep.
  doi: 10.1038/srep13632
  contributor:
    fullname: Mizuno
– volume: 22
  start-page: 851
  year: 2019
  ident: 10.1016/j.celrep.2024.114375_bib19
  article-title: C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo
  publication-title: Nat. Neurosci.
  doi: 10.1038/s41593-019-0397-0
  contributor:
    fullname: Choi
– volume: 167
  start-page: 789
  year: 2016
  ident: 10.1016/j.celrep.2024.114375_bib22
  article-title: Toxic PR poly-dipeptides encoded by the C9orf72 repeat expansion target LC domain polymers
  publication-title: Cell
  doi: 10.1016/j.cell.2016.10.003
  contributor:
    fullname: Lin
– volume: 135
  start-page: 445
  year: 2018
  ident: 10.1016/j.celrep.2024.114375_bib26
  article-title: Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD
  publication-title: Acta Neuropathol.
  doi: 10.1007/s00401-017-1798-3
  contributor:
    fullname: Moens
– volume: 10
  start-page: 291
  year: 2019
  ident: 10.1016/j.celrep.2024.114375_bib42
  article-title: Biomarkers in Motor Neuron Disease: A State of the Art Review
  publication-title: Front. Neurol.
  doi: 10.3389/fneur.2019.00291
  contributor:
    fullname: Verber
– volume: 128
  start-page: 2957
  year: 2015
  ident: 10.1016/j.celrep.2024.114375_bib29
  article-title: The exocyst at a glance
  publication-title: J. Cell Sci.
  contributor:
    fullname: Wu
– volume: 26
  start-page: 1143
  year: 2019
  ident: 10.1016/j.celrep.2024.114375_bib41
  article-title: MAP4K4 activation mediates motor neuron degeneration in amyotrophic lateral sclerosis
  publication-title: Cell Rep.
  doi: 10.1016/j.celrep.2019.01.019
  contributor:
    fullname: Wu
– volume: 130
  start-page: 525
  year: 2015
  ident: 10.1016/j.celrep.2024.114375_bib16
  article-title: FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions
  publication-title: Acta Neuropathol.
  doi: 10.1007/s00401-015-1448-6
  contributor:
    fullname: Yang
– volume: 6
  year: 2016
  ident: 10.1016/j.celrep.2024.114375_bib23
  article-title: Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD
  publication-title: Sci. Rep.
  doi: 10.1038/srep20877
  contributor:
    fullname: Boeynaems
– volume: 9
  start-page: 493
  year: 2003
  ident: 10.1016/j.celrep.2024.114375_bib57
  article-title: Lentivirus-delivered stable gene silencing by RNAi in primary cells
  publication-title: RNA
  doi: 10.1261/rna.2192803
  contributor:
    fullname: Stewart
– volume: 126
  start-page: 845
  year: 2013
  ident: 10.1016/j.celrep.2024.114375_bib13
  article-title: C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
  publication-title: Acta Neuropathol.
  doi: 10.1007/s00401-013-1200-z
  contributor:
    fullname: Mizielinska
– volume: 24
  start-page: 1136
  year: 2018
  ident: 10.1016/j.celrep.2024.114375_bib18
  article-title: Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis
  publication-title: Nat. Med.
  doi: 10.1038/s41591-018-0071-1
  contributor:
    fullname: Zhang
– volume: 126
  start-page: 385
  year: 2013
  ident: 10.1016/j.celrep.2024.114375_bib37
  article-title: Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
  publication-title: Acta Neuropathol.
  contributor:
    fullname: Almeida
– volume: 13
  start-page: 898
  year: 2012
  ident: 10.1016/j.celrep.2024.114375_bib28
  article-title: Exorcising the exocyst complex
  publication-title: Traffic
  doi: 10.1111/j.1600-0854.2012.01353.x
  contributor:
    fullname: Heider
– volume: 4
  year: 2009
  ident: 10.1016/j.celrep.2024.114375_bib58
  article-title: A versatile viral system for expression and depletion of proteins in mammalian cells
  publication-title: PLoS One
  doi: 10.1371/journal.pone.0006529
  contributor:
    fullname: Campeau
SSID ssj0000601194
Score 2.45112
Snippet GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this...
GGGGCC (G C ) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this...
GGGGCC (G 4 C 2 ) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How...
SourceID doaj
pubmedcentral
proquest
crossref
pubmed
elsevier
SourceType Open Website
Open Access Repository
Aggregation Database
Index Database
Publisher
StartPage 114375
SubjectTerms ALS
Amyotrophic Lateral Sclerosis - genetics
Amyotrophic Lateral Sclerosis - pathology
ASO
C9ORF72
C9orf72 Protein - genetics
C9orf72 Protein - metabolism
CP: Cell biology
CP: Neuroscience
DNA Repeat Expansion - genetics
DPR
exocyst
Frontotemporal Dementia - genetics
Frontotemporal Dementia - metabolism
Frontotemporal Dementia - pathology
FTD
Humans
Induced Pluripotent Stem Cells - metabolism
iPSC
Motor Neurons - metabolism
Motor Neurons - pathology
neurodegeneration
neuron
poly(GR)
SummonAdditionalLinks – databaseName: Directory of Open Access Journals
  dbid: DOA
  link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV3di9QwEA9yIPgiflu_iOBruSZNt83jWW89RD3QO9gnQz4muCLtst2Fu__emWZ77OrDvdjHNqTNzCTzm3TyG8beiaijAF3msarqXFkFuQ2Nz-vShSZUhbMjmc6Xr7OzS_VpUS32Sn1RTliiB06COw5OAlgho5ZeSQkWHX6lqyJGF2vtUuAj9oOptAYTl5mazsqNCV0efq-BKCqlIobcklIL93zRSNl_4JL-hZx_Z07uuaL5A3Z_hyH5Sfr2h-wOdI_Y3VRV8vox-4Gq53DV--thw4et2-Ks5aeL81bydao8DwNH3Mc3_dXSIwrnfcT2K9pODvwjXm2LLVe4Sg982fFWn3-b1zI_-fz9eH7x4Qm7nJ9etGf5roxC7qmMRt4QCZusrQhRAVR0WtrirFOAwQQKQ9igo48e5QsSnbeVtrBEexaEcxiQ1eVTdtT1HTxnfDYLSiqrsZdC-UpZKwqNK6QKItTQ2Izlk0DNKrFlmCmN7JdJCjCkAJMUkLH3JPWbtsR1Pd5ACzA7CzC3WUDG6klnZgcbEhzArpa3vP7tpGKDs4p-ldgO-u1gaOXD4AyD2Yw9Syq_-UiCeBjXzTLWHBjDwSgOn3TLnyNzN4FbjaH_i_8x7pfsHo2FNppl-YodbdZbeI0IaePejJPhD9oLDcM
  priority: 102
  providerName: Directory of Open Access Journals
– databaseName: ScienceDirect Free and Delayed Access Journal
  dbid: IXB
  link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1La9wwEBYhEOiltOnLfQQVehVryfLaOiZuNg_aBpoE9lQhWVLrUuxlvQvJv--MH0vcHgr1zV7ZljWjmW-0o28I-cCDCtyrhIU0zZg00jPj8pJliXW5S2NrOjKdz1_m57fycpku90gx7oXBtMrB9vc2vbPWw5XZMJqzVVXNrgXELuCdMsyCBL1FTlBAE1i-4WJ5sltnQb4R3tVDxPYMbxh30HVpXqX_tfZIXCkk8uYmmHD4wEN1RP4TR_U3EP0zn_KBg1o8IY8HZEmP-84_JXu-PiQHfa3J-2fkGygE9XdNed9uaLu1W5jL9HR5VQi67uvR-5YCGqSb5q4qAZvTJkD7FS4yO3oGR1FAyxXY7pZWNS3U1ddFJtjxp-vZ4ubjc3K7OL0pztlQXIGVWFyD5UjNJjLDXZDep7iH2sBclB5CDBgMbpwKZSiVKL0Al26EiQ2SoTluLYRpWfKC7NdN7V8ROp87KaRR8JRYlqk0hscK7KZ03GU-NxFh44DqVc-hocfksp-6F4BGAeheABE5wVHftUUG7O5Cs_6uBxXQzgrvDRcBeiiF8AaAYKrSOAQbMmV5RLJRZnqiUPCo6h-vfz-KWMNcwz9QTO2bbavRHkLIBiFuRF72It91EoEfRHvziOQTZZh8xfSXuvrR8Xkj5FWpSF7_d5ffkEd4hmvOInlL9jfrrX8HYGljj7rZ8Bu3DQ_B
  priority: 102
  providerName: Elsevier
Title The exocyst subunit EXOC2 regulates the toxicity of expanded GGGGCC repeats in C9ORF72-ALS/FTD
URI https://dx.doi.org/10.1016/j.celrep.2024.114375
https://www.ncbi.nlm.nih.gov/pubmed/38935506
https://www.proquest.com/docview/3073230191
https://pubmed.ncbi.nlm.nih.gov/PMC11299523
https://doaj.org/article/db2eea12f92c422ea5615950ffbf79b1
Volume 43
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lb9QwEB6VIlAviGcJj8pIXAOJY2_iA0Jt6FIQpRJ0pT1hOX7AoipZkl1p998zzqMQHkIihxwSJ7E9M55vHPsbgKexEy62Igkd52nIFLOhMpkO06QwmeFRoVoyndP3k5MZezvn8x0Ycrb2Hdj8MbTz-aRm9cWzzbftSzT4Fz_Waml7UVvPPkmZJ79NUn4FrlKWJF7PT3vA343NnuOMDXvo_vLwHlz3fhzB-2TkrlpW_5HX-h2V_rq48idvNb0JN3qYSQ47vbgFO7a8Dde6xJPbO_AJtYPYTaW3zYo062KNhk2O52c5JXWXnN42BKEhWVWbhUagTiqH5Zd-xtmQ13jkOZZc4kDekEVJcnH2YZrS8PDdx-fT81d3YTY9Ps9Pwj7TQqh9po0w8zxtNFWxccxa7jdUKzRMZjHewH6JlRFOOy2othT9u6IqUp4ZzcRFgTFbmtyD3bIq7X0gk4lhlCmBb4mY5kypOBI4iDITm9RmKoBw6FC57Ag15LDS7KvsZCG9LGQniwCOfK9flvV02O2Fqv4se-uSpqDWqpg6rCGj1CpEhVzwyLnCpaKIA0gHmckeWXSIAV-1-Mfnnwwilmh4_m-KKm21bqQfHDF-w3g3gP1O5JeVHLQngGykDKNWjO-Uiy8tubfHv4LT5MH_P_oQ9nwL_Aw0TR7B7qpe28cInVbFQTvlgOc386OD1jK-A09MGMo
link.rule.ids 230,315,786,790,870,891,2113,2232,3520,24339,27946,27947,45898
linkProvider Scholars Portal
linkToHtml http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lb9QwELZKEYJLxbOkvIzE1dq142ziYxu6bGHbSnQr7QnLiW0IQslqsyu1_56ZPFYNHJDI0a84nvE8nPE3hHzgXnnuVMh8FMVMGumYsUnO4jCziY3GmWnAdM4vJrNr-XkZLfdI2t-FwbDKTva3Mr2R1l3JqFvN0aooRlcCfBfQTjFGQQLfynvkvowShXFdZ8uT3UELAo7wJiEidmDYo79C18R55e7X2iFypZAInBtixOEdFdUg-Q801d-W6J8BlXc01PQxOehMS3rczv4J2XPlU_KgTTZ5-4x8A46g7qbKb-sNrbfZFjYzPV1epoKu24T0rqZgDtJNdVPkYJzTykP7FZ4yW_oJnjSFlisQ3jUtSpqqy6_TWLDj-dVouvj4nFxPTxfpjHXZFViO2TVYgthsIjbceulchJeoDWxG6cDHgMXgxiqf-1yJ3AnQ6UaYsUE0NMuzDPy0OHxB9suqdC8JnUysFNIoGGUs80gaw8cKBKe03MYuMQFh_YLqVQuiofvosp-6JYBGAuiWAAE5wVXftUUI7KagWn_XHQ9omwnnDBceZiiFcAYswUhFY-8zH6uMByTuaaYHHAVDFf94_fuexBo2G_5BMaWrtrVGgQg-G_i4ATlsSb6bJFp-4O5NApIMmGHwFcOasvjRAHqjzasiER7995TfkYezxflcz88uvrwij7AGD6BF-Jrsb9Zb9wYsp032ttkZvwGdWhL0
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=The+exocyst+subunit+EXOC2+regulates+the+toxicity+of+expanded+GGGGCC+repeats+in+C9ORF72-ALS%2FFTD&rft.jtitle=Cell+reports+%28Cambridge%29&rft.au=Halim%2C+Dilara+O.&rft.au=Krishnan%2C+Gopinath&rft.au=Hass%2C+Evan+P.&rft.au=Lee%2C+Soojin&rft.date=2024-07-23&rft.eissn=2211-1247&rft.volume=43&rft.issue=7&rft.spage=114375&rft.epage=114375&rft_id=info:doi/10.1016%2Fj.celrep.2024.114375&rft_id=info%3Apmid%2F38935506&rft.externalDBID=PMC11299523
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=2211-1247&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=2211-1247&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=2211-1247&client=summon