Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
SQSTM1 (sequestosome 1; also known as p62) encodes a multidomain scaffolding protein involved in various key cellular processes, including the removal of damaged mitochondria by its function as a selective autophagy receptor. Heterozygous variants in SQSTM1 have been associated with Paget disease of...
Saved in:
| Published in | American journal of human genetics Vol. 99; no. 3; pp. 735 - 743 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
01.09.2016
Cell Press Elsevier |
| Subjects | |
| Online Access | Get full text |
Cover
Loading…
| Abstract | SQSTM1 (sequestosome 1; also known as p62) encodes a multidomain scaffolding protein involved in various key cellular processes, including the removal of damaged mitochondria by its function as a selective autophagy receptor. Heterozygous variants in SQSTM1 have been associated with Paget disease of the bone and might contribute to neurodegeneration in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Using exome sequencing, we identified three different biallelic loss-of-function variants in SQSTM1 in nine affected individuals from four families with a childhood- or adolescence-onset neurodegenerative disorder characterized by gait abnormalities, ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive decline. We confirmed absence of the SQSTM1/p62 protein in affected individuals’ fibroblasts and found evidence of a defect in the early response to mitochondrial depolarization and autophagosome formation. Our findings expand the SQSTM1-associated phenotypic spectrum and lend further support to the concept of disturbed selective autophagy pathways in neurodegenerative diseases. |
|---|---|
| AbstractList | SQSTM1 (sequestosome 1; also known as p62) encodes a multidomain scaffolding protein involved in various key cellular processes, including the removal of damaged mitochondria by its function as a selective autophagy receptor. Heterozygous variants in SQSTM1 have been associated with Paget disease of the bone and might contribute to neurodegeneration in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Using exome sequencing, we identified three different biallelic loss-of-function variants in SQSTM1 in nine affected individuals from four families with a childhood- or adolescence-onset neurodegenerative disorder characterized by gait abnormalities, ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive decline. We confirmed absence of the SQSTM1/p62 protein in affected individuals' fibroblasts and found evidence of a defect in the early response to mitochondrial depolarization and autophagosome formation. Our findings expand the SQSTM1-associated phenotypic spectrum and lend further support to the concept of disturbed selective autophagy pathways in neurodegenerative diseases. SQSTM1 (sequestosome 1; also known as p62 ) encodes a multidomain scaffolding protein involved in various key cellular processes, including the removal of damaged mitochondria by its function as a selective autophagy receptor. Heterozygous variants in SQSTM1 have been associated with Paget disease of the bone and might contribute to neurodegeneration in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Using exome sequencing, we identified three different biallelic loss-of-function variants in SQSTM1 in nine affected individuals from four families with a childhood- or adolescence-onset neurodegenerative disorder characterized by gait abnormalities, ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive decline. We confirmed absence of the SQSTM1/p62 protein in affected individuals’ fibroblasts and found evidence of a defect in the early response to mitochondrial depolarization and autophagosome formation. Our findings expand the SQSTM1 -associated phenotypic spectrum and lend further support to the concept of disturbed selective autophagy pathways in neurodegenerative diseases. |
| Author | Carroll, Christopher J. Wedell, Anna Hayflick, Susan A. Stranneheim, Henrik Lönnqvist, Tuula Berutti, Riccardo Maffezzini, Camilla Graf, Elisabeth Horvath, Rita Paucar, Martin Meitinger, Thomas Tiranti, Valeria Kremer, Laura S. Brandberg, Göran Strom, Tim M. Iuso, Arcangela Hartig, Monika Svenningsson, Per Senderek, Jan Ignatius, Erika Wredenberg, Anna Venco, Paola Calvo-Garrido, Javier Kurian, Manju A. Suomalainen, Anu Dichgans, Martin Freyer, Christoph Isohanni, Pirjo Klopstock, Thomas Gorza, Matteo Holinski-Feder, Elke Haack, Tobias B. Prokisch, Holger |
| AuthorAffiliation | 12 Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA 15 Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute “C. Besta,” 20126 Milan, Italy 16 Institute for Stroke and Dementia Research, Ludwig-Maximilians-University of Munich, 81377 Munich, Germany 18 DZNE - German Center for Neurodegenerative Diseases, 80336 Munich, Germany 3 Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland 21 Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, 80336 Munich, Germany 19 MGZ - Medical Genetics Center, 80335 Munich, Germany 10 Neurosciences Unit, Institute of Child Health, University College London, London WC1N 3BG, UK 20 Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK 2 Institute of Human Genetics, Helmholtz Zentrum Mün |
| AuthorAffiliation_xml | – name: 13 Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA – name: 19 MGZ - Medical Genetics Center, 80335 Munich, Germany – name: 10 Neurosciences Unit, Institute of Child Health, University College London, London WC1N 3BG, UK – name: 18 DZNE - German Center for Neurodegenerative Diseases, 80336 Munich, Germany – name: 3 Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland – name: 5 Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm 17176, Sweden – name: 7 Department of Clinical Neuroscience, Karolinska Institutet, Stockholm 17176, Sweden – name: 14 Department of Neurology, Oregon Health & Science University, Portland, OR 97239, USA – name: 8 Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm 17176, Sweden – name: 17 Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany – name: 1 Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany – name: 12 Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA – name: 4 Department of Child Neurology, Children’s Hospital, University of Helsinki and Helsinki University Hospital, 00029 HUS, Finland – name: 6 Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm 17177, Sweden – name: 21 Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, 80336 Munich, Germany – name: 15 Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute “C. Besta,” 20126 Milan, Italy – name: 20 Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK – name: 2 Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany – name: 16 Institute for Stroke and Dementia Research, Ludwig-Maximilians-University of Munich, 81377 Munich, Germany – name: 11 Department of Paediatric Neurology, Great Ormond Street Hospital, London WC1N 3BG, UK – name: 9 Department of Pediatrics, Falu lasarett, 79182 Falun, Sweden |
| Author_xml | – sequence: 1 givenname: Tobias B. surname: Haack fullname: Haack, Tobias B. email: tobias.haack@helmholtz-muenchen.de organization: Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany – sequence: 2 givenname: Erika surname: Ignatius fullname: Ignatius, Erika organization: Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland – sequence: 3 givenname: Javier surname: Calvo-Garrido fullname: Calvo-Garrido, Javier organization: Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm 17176, Sweden – sequence: 4 givenname: Arcangela surname: Iuso fullname: Iuso, Arcangela organization: Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany – sequence: 5 givenname: Pirjo surname: Isohanni fullname: Isohanni, Pirjo organization: Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland – sequence: 6 givenname: Camilla surname: Maffezzini fullname: Maffezzini, Camilla organization: Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm 17177, Sweden – sequence: 7 givenname: Tuula surname: Lönnqvist fullname: Lönnqvist, Tuula organization: Department of Child Neurology, Children’s Hospital, University of Helsinki and Helsinki University Hospital, 00029 HUS, Finland – sequence: 8 givenname: Anu surname: Suomalainen fullname: Suomalainen, Anu organization: Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland – sequence: 9 givenname: Matteo surname: Gorza fullname: Gorza, Matteo organization: Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany – sequence: 10 givenname: Laura S. surname: Kremer fullname: Kremer, Laura S. organization: Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany – sequence: 11 givenname: Elisabeth surname: Graf fullname: Graf, Elisabeth organization: Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany – sequence: 12 givenname: Monika surname: Hartig fullname: Hartig, Monika organization: Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany – sequence: 13 givenname: Riccardo surname: Berutti fullname: Berutti, Riccardo organization: Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany – sequence: 14 givenname: Martin surname: Paucar fullname: Paucar, Martin organization: Department of Clinical Neuroscience, Karolinska Institutet, Stockholm 17176, Sweden – sequence: 15 givenname: Per surname: Svenningsson fullname: Svenningsson, Per organization: Department of Clinical Neuroscience, Karolinska Institutet, Stockholm 17176, Sweden – sequence: 16 givenname: Henrik surname: Stranneheim fullname: Stranneheim, Henrik organization: Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm 17176, Sweden – sequence: 17 givenname: Göran surname: Brandberg fullname: Brandberg, Göran organization: Department of Pediatrics, Falu lasarett, 79182 Falun, Sweden – sequence: 18 givenname: Anna surname: Wedell fullname: Wedell, Anna organization: Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm 17176, Sweden – sequence: 19 givenname: Manju A. surname: Kurian fullname: Kurian, Manju A. organization: Neurosciences Unit, Institute of Child Health, University College London, London WC1N 3BG, UK – sequence: 20 givenname: Susan A. surname: Hayflick fullname: Hayflick, Susan A. organization: Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA – sequence: 21 givenname: Paola surname: Venco fullname: Venco, Paola organization: Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute “C. Besta,” 20126 Milan, Italy – sequence: 22 givenname: Valeria surname: Tiranti fullname: Tiranti, Valeria organization: Unit of Molecular Neurogenetics – Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute “C. Besta,” 20126 Milan, Italy – sequence: 23 givenname: Tim M. surname: Strom fullname: Strom, Tim M. organization: Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany – sequence: 24 givenname: Martin surname: Dichgans fullname: Dichgans, Martin organization: Institute for Stroke and Dementia Research, Ludwig-Maximilians-University of Munich, 81377 Munich, Germany – sequence: 25 givenname: Rita surname: Horvath fullname: Horvath, Rita organization: MGZ - Medical Genetics Center, 80335 Munich, Germany – sequence: 26 givenname: Elke surname: Holinski-Feder fullname: Holinski-Feder, Elke organization: MGZ - Medical Genetics Center, 80335 Munich, Germany – sequence: 27 givenname: Christoph surname: Freyer fullname: Freyer, Christoph organization: Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm 17177, Sweden – sequence: 28 givenname: Thomas surname: Meitinger fullname: Meitinger, Thomas organization: Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany – sequence: 29 givenname: Holger surname: Prokisch fullname: Prokisch, Holger organization: Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany – sequence: 30 givenname: Jan surname: Senderek fullname: Senderek, Jan organization: Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, 80336 Munich, Germany – sequence: 31 givenname: Anna surname: Wredenberg fullname: Wredenberg, Anna organization: Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm 17177, Sweden – sequence: 32 givenname: Christopher J. surname: Carroll fullname: Carroll, Christopher J. organization: Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland – sequence: 33 givenname: Thomas surname: Klopstock fullname: Klopstock, Thomas email: tklopsto@med.lmu.de organization: Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/27545679$$D View this record in MEDLINE/PubMed http://kipublications.ki.se/Default.aspx?queryparsed=id:134264355$$DView record from Swedish Publication Index |
| BookMark | eNp9klFv0zAUhS00xLrBH-ABWeKFB9LZTuw0EpoUFRhIg4E2ni03vmlcWjvYzkb363HUbjAkkCz5KvnO8b32OUIH1llA6DklU0qoOFlN1apbTlmqpyQtJh6hCeV5mQlB-AGaEEJYVrGqPERHIawIoXRG8ifokJW84KKsJui2XgSwDWDX4tgBrofo-k4tt7jWqo_O48uvl1ef6EkvGJ6rIUDA886sdeeczi5sgIg_w-CdhiVY8CoaZ_GNiR2uo_pp1Gv8dhuis2OlrMZn6hbwF7UO26focZt2eLbfj9G39--u5h-y84uzj_P6PGt4SWOmG1LM-KJZKFrlPG_bFtKkBVc6B0rbomAzURJNiC5JURSKtbytuM5LYI3mVZkfo2znG26gHxay92aj_FY6ZeT-0_dUgeSEVYImvvon36dBf4vuhDQvUkc550l7utMmYAO6ARu9Wj-0ePDHmk4u3XU6mxJRFMng1d7Aux8DhCg3JjSwXisLbgiSzqgQrKLleNbLv9CVG7xNV5koRvgsdZQniu2oxrsQPLT3zVAixxjJlRxjJMcYSZIWE0n04s8x7iV3uUnAmx0A6eGuDXgZGjPmSBsPTZTamf_5_wJrXtwa |
| CitedBy_id | crossref_primary_10_1080_15548627_2018_1532258 crossref_primary_10_15252_embj_201798308 crossref_primary_10_1016_j_braindev_2021_06_001 crossref_primary_10_1038_s41598_022_13291_1 crossref_primary_10_1016_j_stemcr_2021_03_030 crossref_primary_10_1038_s41419_020_02767_5 crossref_primary_10_1126_sciadv_ade0764 crossref_primary_10_1186_s13024_019_0343_3 crossref_primary_10_3390_genes11101123 crossref_primary_10_1016_j_tcb_2017_01_001 crossref_primary_10_1016_j_tins_2019_10_002 crossref_primary_10_4081_ejtm_2023_11501 crossref_primary_10_1021_acs_jmedchem_9b02038 crossref_primary_10_1002_mds_29684 crossref_primary_10_1002_ccr3_6203 crossref_primary_10_3389_fnmol_2017_00263 crossref_primary_10_3389_fcell_2018_00103 crossref_primary_10_3389_fnagi_2018_00026 crossref_primary_10_1002_mgg3_1543 crossref_primary_10_1016_j_bbih_2022_100543 crossref_primary_10_1016_j_parkreldis_2018_12_031 crossref_primary_10_1186_s12974_020_02020_y crossref_primary_10_3390_brainsci13111567 crossref_primary_10_1002_mdc3_14025 crossref_primary_10_1007_s11910_021_01095_1 crossref_primary_10_1016_j_arr_2021_101538 crossref_primary_10_1080_15548627_2020_1783119 crossref_primary_10_1146_annurev_pathmechdis_051122_110756 crossref_primary_10_1021_acschemneuro_8b00516 crossref_primary_10_1016_j_neurobiolaging_2019_02_006 crossref_primary_10_3390_biomedicines11113079 crossref_primary_10_1007_s00018_018_2812_1 crossref_primary_10_1016_j_celrep_2017_03_030 crossref_primary_10_1016_j_nbd_2020_104946 crossref_primary_10_1016_j_jmb_2020_02_012 crossref_primary_10_1002_mds_28982 crossref_primary_10_1016_j_cmet_2018_05_007 crossref_primary_10_1089_ars_2017_7271 crossref_primary_10_1038_s41598_018_29421_7 crossref_primary_10_1007_s40142_019_0160_6 crossref_primary_10_1007_s00702_020_02238_3 crossref_primary_10_1056_NEJMra2022774 crossref_primary_10_1080_15548627_2021_1943177 crossref_primary_10_1212_WNL_0000000000005869 crossref_primary_10_1146_annurev_cellbio_100818_125242 crossref_primary_10_7759_cureus_35458 crossref_primary_10_1007_s00702_020_02290_z crossref_primary_10_1515_revneuro_2018_0045 crossref_primary_10_1186_s12974_017_0942_2 crossref_primary_10_3390_cells11010038 crossref_primary_10_1242_jcs_214304 crossref_primary_10_1038_s41576_022_00562_w crossref_primary_10_3389_fnins_2022_1009125 crossref_primary_10_1093_brain_awab209 crossref_primary_10_1155_2018_6737938 crossref_primary_10_3390_microorganisms10112163 crossref_primary_10_1080_15548627_2023_2247314 crossref_primary_10_1371_journal_pone_0287545 crossref_primary_10_1007_s10048_023_00712_0 crossref_primary_10_1002_mdc3_13697 crossref_primary_10_1002_mdc3_13218 crossref_primary_10_1038_s41598_021_90822_2 crossref_primary_10_1016_j_bbamcr_2018_03_002 crossref_primary_10_1016_j_matbio_2020_11_003 crossref_primary_10_1093_brain_awab161 crossref_primary_10_3390_ijms22189832 crossref_primary_10_3390_ijms21218196 crossref_primary_10_3389_fmolb_2021_676187 crossref_primary_10_3892_ol_2022_13456 crossref_primary_10_3233_JAD_201231 crossref_primary_10_1073_pnas_2001455117 crossref_primary_10_1002_mdc3_13707 crossref_primary_10_3390_cells11091422 crossref_primary_10_1007_s00018_019_03430_9 crossref_primary_10_1038_s41421_020_0166_y crossref_primary_10_1016_j_stemcr_2019_01_023 crossref_primary_10_1038_s41418_019_0480_9 crossref_primary_10_1038_s41419_019_1393_8 crossref_primary_10_1080_21678421_2021_1927101 crossref_primary_10_1002_jimd_12084 crossref_primary_10_1080_13816810_2019_1666414 crossref_primary_10_3390_cells13010103 crossref_primary_10_3390_ijms24098456 |
| Cites_doi | 10.1128/MCB.18.5.3069 10.1038/ng.2892 10.1016/j.ajhg.2012.10.019 10.1073/pnas.94.12.6191 10.1111/j.1471-4159.2008.05340.x 10.1212/WNL.0000000000001864 10.1093/hmg/ddv179 10.1126/science.aaa3650 10.1111/febs.13540 10.1016/j.neuron.2014.12.007 10.1038/nature14893 10.1016/j.ajhg.2015.12.009 10.1093/bioinformatics/bts526 10.1186/1471-2164-15-1090 10.1016/j.cmet.2006.01.011 10.1083/jcb.200507002 10.1016/j.cell.2009.05.023 10.1016/j.molcel.2015.09.016 10.1038/ng.2562 10.1186/gb-2011-12-9-r94 10.1016/j.yexcr.2014.01.020 10.1083/jcb.200809125 10.1038/ncb2012 10.4161/auto.6.8.13426 10.1016/j.molcel.2013.12.014 10.1016/j.ccr.2013.10.025 |
| ContentType | Journal Article |
| Copyright | 2016 American Society of Human Genetics Copyright © 2016 American Society of Human Genetics. All rights reserved. Copyright Cell Press Sep 1, 2016 2016 American Society of Human Genetics. 2016 American Society of Human Genetics |
| Copyright_xml | – notice: 2016 American Society of Human Genetics – notice: Copyright © 2016 American Society of Human Genetics. All rights reserved. – notice: Copyright Cell Press Sep 1, 2016 – notice: 2016 American Society of Human Genetics. 2016 American Society of Human Genetics |
| DBID | 6I. AAFTH CGR CUY CVF ECM EIF NPM AAYXX CITATION 7QP 7TK 7TM 7U7 8FD C1K FR3 K9. NAPCQ P64 RC3 7X8 5PM ADTPV AOWAS D8T ZZAVC |
| DOI | 10.1016/j.ajhg.2016.06.026 |
| DatabaseName | ScienceDirect Open Access Titles Elsevier:ScienceDirect:Open Access Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed CrossRef Calcium & Calcified Tissue Abstracts Neurosciences Abstracts Nucleic Acids Abstracts Toxicology Abstracts Technology Research Database Environmental Sciences and Pollution Management Engineering Research Database ProQuest Health & Medical Complete (Alumni) Nursing & Allied Health Premium Biotechnology and BioEngineering Abstracts Genetics Abstracts MEDLINE - Academic PubMed Central (Full Participant titles) SwePub SwePub Articles SWEPUB Freely available online SwePub Articles full text |
| DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) CrossRef Nursing & Allied Health Premium Genetics Abstracts Technology Research Database Toxicology Abstracts Nucleic Acids Abstracts ProQuest Health & Medical Complete (Alumni) Engineering Research Database Calcium & Calcified Tissue Abstracts Neurosciences Abstracts Biotechnology and BioEngineering Abstracts Environmental Sciences and Pollution Management MEDLINE - Academic |
| DatabaseTitleList | MEDLINE Nursing & Allied Health Premium |
| Database_xml | – sequence: 1 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: 2 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 | 1537-6605 |
| EndPage | 743 |
| ExternalDocumentID | oai_swepub_ki_se_502961 oai_prod_swepub_kib_ki_se_134264355 4186452351 10_1016_j_ajhg_2016_06_026 27545679 S0002929716302300 |
| Genre | Research Support, Non-U.S. Gov't Journal Article |
| GrantInformation_xml | – fundername: Wellcome Trust – fundername: Wellcome Trust grantid: 109915/Z/15/Z – fundername: European Research Council grantid: 309548 – fundername: Medical Research Council grantid: MR/N025431/1 – fundername: Medical Research Council grantid: G1000848 |
| GroupedDBID | --- --K --Z -~X 0R~ 123 1~5 23M 2WC 4.4 457 4G. 53G 5GY 62- 6I. 6J9 7-5 85S AACTN AAEDT AAEDW AAFTH AAIAV AAKRW AALRI AAUCE AAVLU AAWTL AAXJY AAXUO ABJNI ABMAC ABMWF ABOCM ABVKL ACGFO ACGFS ACGOD ACNCT ACPRK ADBBV ADEZE ADJPV AENEX AEXQZ AFRAH AFTJW AGKMS AHMBA AITUG ALKID ALMA_UNASSIGNED_HOLDINGS AMRAJ AOIJS ASPBG AVWKF AZFZN BAWUL CS3 D0L DIK E3Z EBS ECV EJD F5P FCP FDB FEDTE GX1 HVGLF HYE IH2 IHE IXB JIG KQ8 L7B M41 NCXOZ O-L O9- OK1 P2P PQQKQ RCE RIG RNS ROL RPM RPZ SES SJN SSZ TN5 TR2 TWZ UHB UKR UNMZH UPT VQA WH7 WQ6 ZA5 ZCA 0SF AAMRU ADVLN AKAPO AKRWK CGR CUY CVF ECM EIF NPM .55 .GJ 34R 3O- 41~ AAIKJ AAQXK AAYXX ACKIV ACRPL ADMUD AGCDD AGHFR AI. C1A CITATION FA8 FGOYB HZ~ MVM NEJ OHT OZT R2- VH1 WOQ X7M XOL ZCG ZGI ZXP 7QP 7TK 7TM 7U7 8FD C1K FR3 K9. NAPCQ P64 RC3 7X8 5PM ADTPV AOWAS D8T ZZAVC ABWVN ADNMO |
| ID | FETCH-LOGICAL-c571t-dc0485bcba19353fffe02645ad3e11f4428670d00d70444a2f5f95d37e2cd5973 |
| IEDL.DBID | RPM |
| ISSN | 0002-9297 1537-6605 |
| IngestDate | Tue Dec 17 03:31:40 EST 2024 Wed Oct 30 04:53:01 EDT 2024 Tue Sep 17 21:18:57 EDT 2024 Fri Oct 25 22:46:36 EDT 2024 Thu Oct 10 22:09:35 EDT 2024 Fri Dec 06 03:45:08 EST 2024 Sat Sep 28 08:09:46 EDT 2024 Fri Feb 23 02:29:30 EST 2024 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 3 |
| Language | English |
| License | This article is made available under the Elsevier license. Copyright © 2016 American Society of Human Genetics. All rights reserved. |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c571t-dc0485bcba19353fffe02645ad3e11f4428670d00d70444a2f5f95d37e2cd5973 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 These authors contributed equally to this work |
| OpenAccessLink | https://www.sciencedirect.com/science/article/pii/S0002929716302300 |
| PMID | 27545679 |
| PQID | 1820584353 |
| PQPubID | 24320 |
| PageCount | 9 |
| ParticipantIDs | swepub_primary_oai_swepub_ki_se_502961 swepub_primary_oai_prod_swepub_kib_ki_se_134264355 pubmedcentral_primary_oai_pubmedcentral_nih_gov_5010644 proquest_miscellaneous_1816629175 proquest_journals_1820584353 crossref_primary_10_1016_j_ajhg_2016_06_026 pubmed_primary_27545679 elsevier_sciencedirect_doi_10_1016_j_ajhg_2016_06_026 |
| PublicationCentury | 2000 |
| PublicationDate | 2016-09-01 |
| PublicationDateYYYYMMDD | 2016-09-01 |
| PublicationDate_xml | – month: 09 year: 2016 text: 2016-09-01 day: 01 |
| PublicationDecade | 2010 |
| PublicationPlace | United States |
| PublicationPlace_xml | – name: United States – name: Chicago |
| PublicationTitle | American journal of human genetics |
| PublicationTitleAlternate | Am J Hum Genet |
| PublicationYear | 2016 |
| Publisher | Elsevier Inc Cell Press Elsevier |
| Publisher_xml | – name: Elsevier Inc – name: Cell Press – name: Elsevier |
| References | Sulonen, Ellonen, Almusa, Lepistö, Eldfors, Hannula, Miettinen, Tyynismaa, Salo, Heckman (bib9) 2011; 12 Haack, Hogarth, Kruer, Gregory, Wieland, Schwarzmayr, Graf, Sanford, Meyer, Kara (bib6) 2012; 91 Pickrell, Youle (bib2) 2015; 85 Cirulli, Lasseigne, Petrovski, Sapp, Dion, Leblond, Couthouis, Lu, Wang, Krueger (bib27) 2015; 347 Narendra, Kane, Hauser, Fearnley, Youle (bib18) 2010; 6 Saitsu, Nishimura, Muramatsu, Kodera, Kumada, Sugai, Kasai-Yoshida, Sawaura, Nishida, Hoshino (bib25) 2013; 45 Kircher, Witten, Jain, O’Roak, Cooper, Shendure (bib10) 2014; 46 Manford, Rape (bib1) 2015; 60 Rogov, Dötsch, Johansen, Kirkin (bib20) 2014; 53 Rodriguez, Durán, Selloum, Champy, Diez-Guerra, Flores, Serrano, Auwerx, Diaz-Meco, Moscat (bib22) 2006; 3 Lazarou, Sliter, Kane, Sarraf, Wang, Burman, Sideris, Fogel, Youle (bib3) 2015; 524 Narendra, Tanaka, Suen, Youle (bib28) 2008; 183 Bucelli, Arhzaouy, Pestronk, Pittman, Rojas, Sue, Evilä, Hackman, Udd, Harms, Weihl (bib5) 2015; 85 Sanchez, De Carcer, Sandoval, Moscat, Diaz-Meco (bib13) 1998; 18 Moscat, Diaz-Meco (bib15) 2009; 137 Hogarth (bib24) 2015; 8 Plagnol, Curtis, Epstein, Mok, Stebbings, Grigoriadou, Wood, Hambleton, Burns, Thrasher (bib8) 2012; 28 Geisler, Holmström, Skujat, Fiesel, Rothfuss, Kahle, Springer (bib17) 2010; 12 Okatsu, Saisho, Shimanuki, Nakada, Shitara, Sou, Kimura, Sato, Hattori, Komatsu (bib19) 2010; 15 Matsumoto, Shimogori, Hattori, Nukina (bib21) 2015; 24 Li, Shen, Nakamura, Ando, Signoretti, Beroukhim, Cowley, Lizotte, Liberzon, Bair (bib26) 2013; 24 Puls, Schmidt, Grawe, Stabel (bib12) 1997; 94 Stranneheim, Engvall, Naess, Lesko, Larsson, Dahlberg, Andeer, Wredenberg, Freyer, Barbaro (bib11) 2014; 15 Kremer, Distelmaier, Alhaddad, Hempel, Iuso, Küpper, Mühlhausen, Kovacs-Nagy, Satanovskij, Graf (bib7) 2016; 98 Rea, Majcher, Searle, Layfield (bib4) 2014; 325 Bjørkøy, Lamark, Brech, Outzen, Perander, Overvatn, Stenmark, Johansen (bib16) 2005; 171 Katsuragi, Ichimura, Komatsu (bib14) 2015; 282 Ramesh Babu, Lamar Seibenhener, Peng, Strom, Kemppainen, Cox, Zhu, Wooten, Diaz-Meco, Moscat, Wooten (bib23) 2008; 106 Haack (10.1016/j.ajhg.2016.06.026_bib6) 2012; 91 Kircher (10.1016/j.ajhg.2016.06.026_bib10) 2014; 46 Ramesh Babu (10.1016/j.ajhg.2016.06.026_bib23) 2008; 106 Manford (10.1016/j.ajhg.2016.06.026_bib1) 2015; 60 Cirulli (10.1016/j.ajhg.2016.06.026_bib27) 2015; 347 Rea (10.1016/j.ajhg.2016.06.026_bib4) 2014; 325 Katsuragi (10.1016/j.ajhg.2016.06.026_bib14) 2015; 282 Stranneheim (10.1016/j.ajhg.2016.06.026_bib11) 2014; 15 Narendra (10.1016/j.ajhg.2016.06.026_bib28) 2008; 183 Plagnol (10.1016/j.ajhg.2016.06.026_bib8) 2012; 28 Bjørkøy (10.1016/j.ajhg.2016.06.026_bib16) 2005; 171 Pickrell (10.1016/j.ajhg.2016.06.026_bib2) 2015; 85 Sulonen (10.1016/j.ajhg.2016.06.026_bib9) 2011; 12 Bucelli (10.1016/j.ajhg.2016.06.026_bib5) 2015; 85 Puls (10.1016/j.ajhg.2016.06.026_bib12) 1997; 94 Matsumoto (10.1016/j.ajhg.2016.06.026_bib21) 2015; 24 Hogarth (10.1016/j.ajhg.2016.06.026_bib24) 2015; 8 Kremer (10.1016/j.ajhg.2016.06.026_bib7) 2016; 98 Rogov (10.1016/j.ajhg.2016.06.026_bib20) 2014; 53 Geisler (10.1016/j.ajhg.2016.06.026_bib17) 2010; 12 Saitsu (10.1016/j.ajhg.2016.06.026_bib25) 2013; 45 Okatsu (10.1016/j.ajhg.2016.06.026_bib19) 2010; 15 Moscat (10.1016/j.ajhg.2016.06.026_bib15) 2009; 137 Narendra (10.1016/j.ajhg.2016.06.026_bib18) 2010; 6 Lazarou (10.1016/j.ajhg.2016.06.026_bib3) 2015; 524 Sanchez (10.1016/j.ajhg.2016.06.026_bib13) 1998; 18 Rodriguez (10.1016/j.ajhg.2016.06.026_bib22) 2006; 3 Li (10.1016/j.ajhg.2016.06.026_bib26) 2013; 24 |
| References_xml | – volume: 46 start-page: 310 year: 2014 end-page: 315 ident: bib10 article-title: A general framework for estimating the relative pathogenicity of human genetic variants publication-title: Nat. Genet. contributor: fullname: Shendure – volume: 94 start-page: 6191 year: 1997 end-page: 6196 ident: bib12 article-title: Interaction of protein kinase C zeta with ZIP, a novel protein kinase C-binding protein publication-title: Proc. Natl. Acad. Sci. USA contributor: fullname: Stabel – volume: 15 start-page: 887 year: 2010 end-page: 900 ident: bib19 article-title: p62/SQSTM1 cooperates with Parkin for perinuclear clustering of depolarized mitochondria publication-title: Genes Cells contributor: fullname: Komatsu – volume: 85 start-page: 665 year: 2015 end-page: 674 ident: bib5 article-title: SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles publication-title: Neurology contributor: fullname: Weihl – volume: 171 start-page: 603 year: 2005 end-page: 614 ident: bib16 article-title: p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death publication-title: J. Cell Biol. contributor: fullname: Johansen – volume: 347 start-page: 1436 year: 2015 end-page: 1441 ident: bib27 article-title: Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways publication-title: Science contributor: fullname: Krueger – volume: 53 start-page: 167 year: 2014 end-page: 178 ident: bib20 article-title: Interactions between autophagy receptors and ubiquitin-like proteins form the molecular basis for selective autophagy publication-title: Mol. Cell contributor: fullname: Kirkin – volume: 24 start-page: 738 year: 2013 end-page: 750 ident: bib26 article-title: SQSTM1 is a pathogenic target of 5q copy number gains in kidney cancer publication-title: Cancer Cell contributor: fullname: Bair – volume: 325 start-page: 27 year: 2014 end-page: 37 ident: bib4 article-title: SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD publication-title: Exp. Cell Res. contributor: fullname: Layfield – volume: 12 start-page: 119 year: 2010 end-page: 131 ident: bib17 article-title: PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1 publication-title: Nat. Cell Biol. contributor: fullname: Springer – volume: 24 start-page: 4429 year: 2015 end-page: 4442 ident: bib21 article-title: TBK1 controls autophagosomal engulfment of polyubiquitinated mitochondria through p62/SQSTM1 phosphorylation publication-title: Hum. Mol. Genet. contributor: fullname: Nukina – volume: 524 start-page: 309 year: 2015 end-page: 314 ident: bib3 article-title: The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy publication-title: Nature contributor: fullname: Youle – volume: 6 start-page: 1090 year: 2010 end-page: 1106 ident: bib18 article-title: p62/SQSTM1 is required for Parkin-induced mitochondrial clustering but not mitophagy; VDAC1 is dispensable for both publication-title: Autophagy contributor: fullname: Youle – volume: 28 start-page: 2747 year: 2012 end-page: 2754 ident: bib8 article-title: A robust model for read count data in exome sequencing experiments and implications for copy number variant calling publication-title: Bioinformatics contributor: fullname: Thrasher – volume: 8 start-page: 1 year: 2015 end-page: 13 ident: bib24 article-title: Neurodegeneration with brain iron accumulation: diagnosis and management publication-title: J. Mov. Disord. contributor: fullname: Hogarth – volume: 98 start-page: 358 year: 2016 end-page: 362 ident: bib7 article-title: Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy publication-title: Am. J. Hum. Genet. contributor: fullname: Graf – volume: 137 start-page: 1001 year: 2009 end-page: 1004 ident: bib15 article-title: p62 at the crossroads of autophagy, apoptosis, and cancer publication-title: Cell contributor: fullname: Diaz-Meco – volume: 15 start-page: 1090 year: 2014 ident: bib11 article-title: Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism publication-title: BMC Genomics contributor: fullname: Barbaro – volume: 91 start-page: 1144 year: 2012 end-page: 1149 ident: bib6 article-title: Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA publication-title: Am. J. Hum. Genet. contributor: fullname: Kara – volume: 85 start-page: 257 year: 2015 end-page: 273 ident: bib2 article-title: The roles of PINK1, parkin, and mitochondrial fidelity in Parkinson’s disease publication-title: Neuron contributor: fullname: Youle – volume: 3 start-page: 211 year: 2006 end-page: 222 ident: bib22 article-title: Mature-onset obesity and insulin resistance in mice deficient in the signaling adapter p62 publication-title: Cell Metab. contributor: fullname: Moscat – volume: 183 start-page: 795 year: 2008 end-page: 803 ident: bib28 article-title: Parkin is recruited selectively to impaired mitochondria and promotes their autophagy publication-title: J. Cell Biol. contributor: fullname: Youle – volume: 18 start-page: 3069 year: 1998 end-page: 3080 ident: bib13 article-title: Localization of atypical protein kinase C isoforms into lysosome-targeted endosomes through interaction with p62 publication-title: Mol. Cell. Biol. contributor: fullname: Diaz-Meco – volume: 45 start-page: 445 year: 2013 end-page: 449, e1 ident: bib25 article-title: De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood publication-title: Nat. Genet. contributor: fullname: Hoshino – volume: 106 start-page: 107 year: 2008 end-page: 120 ident: bib23 article-title: Genetic inactivation of p62 leads to accumulation of hyperphosphorylated tau and neurodegeneration publication-title: J. Neurochem. contributor: fullname: Wooten – volume: 60 start-page: 1 year: 2015 end-page: 2 ident: bib1 article-title: Better safe than sorry: interlinked feedback loops for robust mitophagy publication-title: Mol. Cell contributor: fullname: Rape – volume: 282 start-page: 4672 year: 2015 end-page: 4678 ident: bib14 article-title: p62/SQSTM1 functions as a signaling hub and an autophagy adaptor publication-title: FEBS J. contributor: fullname: Komatsu – volume: 12 start-page: R94 year: 2011 ident: bib9 article-title: Comparison of solution-based exome capture methods for next generation sequencing publication-title: Genome Biol. contributor: fullname: Heckman – volume: 18 start-page: 3069 year: 1998 ident: 10.1016/j.ajhg.2016.06.026_bib13 article-title: Localization of atypical protein kinase C isoforms into lysosome-targeted endosomes through interaction with p62 publication-title: Mol. Cell. Biol. doi: 10.1128/MCB.18.5.3069 contributor: fullname: Sanchez – volume: 46 start-page: 310 year: 2014 ident: 10.1016/j.ajhg.2016.06.026_bib10 article-title: A general framework for estimating the relative pathogenicity of human genetic variants publication-title: Nat. Genet. doi: 10.1038/ng.2892 contributor: fullname: Kircher – volume: 91 start-page: 1144 year: 2012 ident: 10.1016/j.ajhg.2016.06.026_bib6 article-title: Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2012.10.019 contributor: fullname: Haack – volume: 94 start-page: 6191 year: 1997 ident: 10.1016/j.ajhg.2016.06.026_bib12 article-title: Interaction of protein kinase C zeta with ZIP, a novel protein kinase C-binding protein publication-title: Proc. Natl. Acad. Sci. USA doi: 10.1073/pnas.94.12.6191 contributor: fullname: Puls – volume: 106 start-page: 107 year: 2008 ident: 10.1016/j.ajhg.2016.06.026_bib23 article-title: Genetic inactivation of p62 leads to accumulation of hyperphosphorylated tau and neurodegeneration publication-title: J. Neurochem. doi: 10.1111/j.1471-4159.2008.05340.x contributor: fullname: Ramesh Babu – volume: 85 start-page: 665 year: 2015 ident: 10.1016/j.ajhg.2016.06.026_bib5 article-title: SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles publication-title: Neurology doi: 10.1212/WNL.0000000000001864 contributor: fullname: Bucelli – volume: 24 start-page: 4429 year: 2015 ident: 10.1016/j.ajhg.2016.06.026_bib21 article-title: TBK1 controls autophagosomal engulfment of polyubiquitinated mitochondria through p62/SQSTM1 phosphorylation publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddv179 contributor: fullname: Matsumoto – volume: 347 start-page: 1436 year: 2015 ident: 10.1016/j.ajhg.2016.06.026_bib27 article-title: Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways publication-title: Science doi: 10.1126/science.aaa3650 contributor: fullname: Cirulli – volume: 282 start-page: 4672 year: 2015 ident: 10.1016/j.ajhg.2016.06.026_bib14 article-title: p62/SQSTM1 functions as a signaling hub and an autophagy adaptor publication-title: FEBS J. doi: 10.1111/febs.13540 contributor: fullname: Katsuragi – volume: 8 start-page: 1 year: 2015 ident: 10.1016/j.ajhg.2016.06.026_bib24 article-title: Neurodegeneration with brain iron accumulation: diagnosis and management publication-title: J. Mov. Disord. contributor: fullname: Hogarth – volume: 85 start-page: 257 year: 2015 ident: 10.1016/j.ajhg.2016.06.026_bib2 article-title: The roles of PINK1, parkin, and mitochondrial fidelity in Parkinson’s disease publication-title: Neuron doi: 10.1016/j.neuron.2014.12.007 contributor: fullname: Pickrell – volume: 524 start-page: 309 year: 2015 ident: 10.1016/j.ajhg.2016.06.026_bib3 article-title: The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy publication-title: Nature doi: 10.1038/nature14893 contributor: fullname: Lazarou – volume: 98 start-page: 358 year: 2016 ident: 10.1016/j.ajhg.2016.06.026_bib7 article-title: Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2015.12.009 contributor: fullname: Kremer – volume: 28 start-page: 2747 year: 2012 ident: 10.1016/j.ajhg.2016.06.026_bib8 article-title: A robust model for read count data in exome sequencing experiments and implications for copy number variant calling publication-title: Bioinformatics doi: 10.1093/bioinformatics/bts526 contributor: fullname: Plagnol – volume: 15 start-page: 887 year: 2010 ident: 10.1016/j.ajhg.2016.06.026_bib19 article-title: p62/SQSTM1 cooperates with Parkin for perinuclear clustering of depolarized mitochondria publication-title: Genes Cells contributor: fullname: Okatsu – volume: 15 start-page: 1090 year: 2014 ident: 10.1016/j.ajhg.2016.06.026_bib11 article-title: Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism publication-title: BMC Genomics doi: 10.1186/1471-2164-15-1090 contributor: fullname: Stranneheim – volume: 3 start-page: 211 year: 2006 ident: 10.1016/j.ajhg.2016.06.026_bib22 article-title: Mature-onset obesity and insulin resistance in mice deficient in the signaling adapter p62 publication-title: Cell Metab. doi: 10.1016/j.cmet.2006.01.011 contributor: fullname: Rodriguez – volume: 171 start-page: 603 year: 2005 ident: 10.1016/j.ajhg.2016.06.026_bib16 article-title: p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death publication-title: J. Cell Biol. doi: 10.1083/jcb.200507002 contributor: fullname: Bjørkøy – volume: 137 start-page: 1001 year: 2009 ident: 10.1016/j.ajhg.2016.06.026_bib15 article-title: p62 at the crossroads of autophagy, apoptosis, and cancer publication-title: Cell doi: 10.1016/j.cell.2009.05.023 contributor: fullname: Moscat – volume: 60 start-page: 1 year: 2015 ident: 10.1016/j.ajhg.2016.06.026_bib1 article-title: Better safe than sorry: interlinked feedback loops for robust mitophagy publication-title: Mol. Cell doi: 10.1016/j.molcel.2015.09.016 contributor: fullname: Manford – volume: 45 start-page: 445 year: 2013 ident: 10.1016/j.ajhg.2016.06.026_bib25 article-title: De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood publication-title: Nat. Genet. doi: 10.1038/ng.2562 contributor: fullname: Saitsu – volume: 12 start-page: R94 year: 2011 ident: 10.1016/j.ajhg.2016.06.026_bib9 article-title: Comparison of solution-based exome capture methods for next generation sequencing publication-title: Genome Biol. doi: 10.1186/gb-2011-12-9-r94 contributor: fullname: Sulonen – volume: 325 start-page: 27 year: 2014 ident: 10.1016/j.ajhg.2016.06.026_bib4 article-title: SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD publication-title: Exp. Cell Res. doi: 10.1016/j.yexcr.2014.01.020 contributor: fullname: Rea – volume: 183 start-page: 795 year: 2008 ident: 10.1016/j.ajhg.2016.06.026_bib28 article-title: Parkin is recruited selectively to impaired mitochondria and promotes their autophagy publication-title: J. Cell Biol. doi: 10.1083/jcb.200809125 contributor: fullname: Narendra – volume: 12 start-page: 119 year: 2010 ident: 10.1016/j.ajhg.2016.06.026_bib17 article-title: PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1 publication-title: Nat. Cell Biol. doi: 10.1038/ncb2012 contributor: fullname: Geisler – volume: 6 start-page: 1090 year: 2010 ident: 10.1016/j.ajhg.2016.06.026_bib18 article-title: p62/SQSTM1 is required for Parkin-induced mitochondrial clustering but not mitophagy; VDAC1 is dispensable for both publication-title: Autophagy doi: 10.4161/auto.6.8.13426 contributor: fullname: Narendra – volume: 53 start-page: 167 year: 2014 ident: 10.1016/j.ajhg.2016.06.026_bib20 article-title: Interactions between autophagy receptors and ubiquitin-like proteins form the molecular basis for selective autophagy publication-title: Mol. Cell doi: 10.1016/j.molcel.2013.12.014 contributor: fullname: Rogov – volume: 24 start-page: 738 year: 2013 ident: 10.1016/j.ajhg.2016.06.026_bib26 article-title: SQSTM1 is a pathogenic target of 5q copy number gains in kidney cancer publication-title: Cancer Cell doi: 10.1016/j.ccr.2013.10.025 contributor: fullname: Li |
| SSID | ssj0011803 |
| Score | 2.547961 |
| Snippet | SQSTM1 (sequestosome 1; also known as p62) encodes a multidomain scaffolding protein involved in various key cellular processes, including the removal of... SQSTM1 (sequestosome 1; also known as p62 ) encodes a multidomain scaffolding protein involved in various key cellular processes, including the removal of... |
| SourceID | swepub pubmedcentral proquest crossref pubmed elsevier |
| SourceType | Open Access Repository Aggregation Database Index Database Publisher |
| StartPage | 735 |
| SubjectTerms | Adolescent Adult Age of Onset Amyotrophic lateral sclerosis Ataxia - complications Ataxia - genetics Autophagosomes - metabolism Autophagosomes - pathology Autophagy Autophagy - genetics Child Cognition Disorders - genetics Dementia Dysarthria - complications Dysarthria - genetics Dystonia - complications Dystonia - genetics Female Fibroblasts - metabolism Gait - genetics Genotype & phenotype Humans Male Medicin och hälsovetenskap Mitochondria Mitochondria - metabolism Mitochondria - pathology Movement Disorders - complications Movement Disorders - genetics Neurodegenerative Diseases - complications Neurodegenerative Diseases - genetics Neurodegenerative Diseases - physiopathology Pedigree Phenotype Proteins RNA, Messenger - analysis Sequestosome-1 Protein - deficiency Sequestosome-1 Protein - genetics Supranuclear Palsy, Progressive - complications Supranuclear Palsy, Progressive - genetics Young Adult |
| SummonAdditionalLinks | – databaseName: Elsevier Open Archive Journals dbid: ABVKL link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1La9wwEB5CQqGX0nfdpEWF0ktr1rItuXt0tw2hbfogSclNSJa0cQLeJfZCt7--M36BSeihB4MfEkiah76xRp8AXuuMG6EjH6ZezsM01jqcRyYLM48xUOy0mRe0G_n4mzw6Sz-fi_MdWAx7YSitsvf9nU9vvXX_ZtaP5mxdlrTHN4pxckfATwffRBi37xGXOar2Xv7h15ev42ICfx8lAwqmCv3emS7NS19eLCnDS7Y0nsSxcPv8dBN_3kyjnJCNthPU4X241yNLlneNfwA7rnoId7qzJreP4E9uauodW3mGoI_lG6IU0Msty61eY-TNTn6enB7z2VrGbKE3tavZyHscfq9q17CWycO6ZUtVTRJl9BuX5Y3-Xep37OOWkCTd6coySiNiP1C7t4_h7PDT6eIo7A9eCAuR8Sa0Bdq1MIXRCO9E4r13ODKp0DZxnPsUQxaZRTaKbEZ0czr2ws-FTTIXFxYjlOQJ7Faryj0DVhip0YdJdBO0xhiZxKcJiqwwVnjNbQBvh-FW645fQw2JZ5eKhKNIOIqy72IZgBgkoiZaonAC-Ge9g0F8qrfRWhF1PcIv7GAAr8bPaF20ZKIrt9pQGS5ljCGtCOBpJ-2xmahsiD6zeQDZRA_GAsTcPf1SlRctg7egSDxNA4g7jZlWQUmq_v1VSZeqneIJYVdEhwG8uaXSWJ7KCjQMyZ__52Dtw1166hLpDmC3ud64F4i8GvOyt6y_tAEuXQ priority: 102 providerName: Elsevier |
| Title | Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy |
| URI | https://dx.doi.org/10.1016/j.ajhg.2016.06.026 https://www.ncbi.nlm.nih.gov/pubmed/27545679 https://www.proquest.com/docview/1820584353 https://search.proquest.com/docview/1816629175 https://pubmed.ncbi.nlm.nih.gov/PMC5010644 http://kipublications.ki.se/Default.aspx?queryparsed=id:134264355 |
| Volume | 99 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3fb9MwED5tQ0i8IH4vMCojIV4ga-LEDn3MCtPGKAxtQ32z7NjuOlhakVai_PXc5UelahMPPLSqGltyfXe-7-rPnwFe6yw2Qkc-TL0chCnXOhxEJgszjzUQd9oMCjqNPPoijy7ST2Mx3gLRnYWpSfuFme6XP6_3y-llza2cXxf9jifWPx0NBRUyadrfhm1Mv12J3m4dxO-jpMO8mPuz9qRMQ-rSV5cT4nPJWrST0wVGPCMQQVSu2xPTTeB5kz-5oTJaZ6bDB3C_hZQsb4b-ELZc-QjuNpdMrh7Dn9xUFL5s5hmiPZYvSUtAT1Yst3qOJTc7-3Z2Por7c8nZUC8rV7G14HH4tazcgtUSHtZNao1qMiWj_29ZvtC_p_od-7AiCEmfdGkZ8YfYKbr16glcHH48Hx6F7Y0LYSGyeBHaAgNamMJoxHUi8d47nKRUaJu4OPYp1ioyi2wU2Yx05jT3wg-ETTLHC4ulSfIUdspZ6XaBFUZqXLwkrg-0uRiZxKcJFmeFscLr2AbwtptuNW-ENVTHOLtSZCdFdlJEu-MyANFZRLXQoEn5Clf-f_bb68yn2uCsFGnWI-7CHxjAq_VjDCvaK9Glmy2pTSwlx1pWBPCssfZ6mJ3HBJBt-MG6AUl2bz5BT66lu1vPDYA3HrPZBS2p2u9_TOmlKqfihEArwsIA3tzSad2e2oqID2T8_L_H9QLu0eQ1HLo92Fn8WrqXCLoWpgd38oPvJ597WHYcn-D78figVwfeX0vcMLQ |
| link.rule.ids | 230,314,727,780,784,885,3506,27569,27924,27925,45663,45874,53791,53793 |
| linkProvider | National Library of Medicine |
| linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1bi9QwFA7LLqIv4n2rq0YQX7RMb0nsYx1dRndmVXZW9i0kTTLbFTqD7YDjr_ec3qDs4oMPhdIkkORc8p3m5Ashr5UINVOB8xPHUz-JlPLTQAtfOIiBIqt0muNp5MUpn50nXy7YxR6Z9mdhMK2y8_2tT2-8dfdl0s3mZFMUeMY3iGBxB8CPF98EELcfABrgoOwH2YcfJ_NhMyF8H8Q9CsYG3dmZNs1LXV2uMMOLNzSeyLFw8_p0HX9eT6MckY02C9TxPXK3Q5Y0azt_n-zZ8gG51d41uXtI_mS6wtHRtaMA-mi2RUoBtdrRzKgNRN707PvZchFONjyiU7WtbEUH3mP_a1nZmjZMHsauGqpqlCjF37g0q9XvQr2jH3eIJPFNlYZiGhH9Btq9e0TOjz8tpzO_u3jBz5kIa9_kYNdM51oBvGOxc87CzCRMmdiGoUsgZOEiMEFgBNLNqcgxlzITCxvlBiKU-DHZL9elPSQ011yBD-PgJnCPMdCxS2IQWa4Ncyo0HnnbT7fctPwask88u5IoHInCkZh9F3GPsF4icqQlEhaAf7Y76sUnOxutJFLXA_yCAXrk1VAM1oVbJqq06y3WCTmPIKRlHnnSSnvoZiQQfYrUI2KkB0MFZO4el5TFZcPgzTASTxKPRK3GjJuAJGX3_WeBj6ysDGPEroAOPfLmhkZDfazLwDB4-PQ_J-sluT1bLuZy_vn05Bm5gyVtUt0R2a9_be1zQGG1ftFZ2V_uzjFC |
| linkToPdf | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lb9QwELagCMQF8SZQwEiIC6RJnNghx2jLqjy2LGor9WbZsb3dQrMRyUosv56ZvMSqFQcOkaLElhzPjP1N_PkzIa9VGmmuQucnTmR-wpTys1CnfuogB2JW6azA3cizQ3Fwknw65ad_HfXVkvYLvdwrf1zslcuzlltZXRTBwBML5rMJx0QmSYLKuOA6ucFjcLIhUe8XEKL3YTwgX0AAab9fpqN2qfOzBbK6RCvdyfAYI5YilEBC19XT02X4eZlFuaU12s5P07vkTg8sad59wD1yzZb3yc3uqMnNA_I71zUGMV05CpiP5mtUFFCLDc2NqiDxpkffjo5nUVAJRidqXduajrLH_teytg1thTyMXbRK1WhQin9xad6oX0v1ju5vEEjinSoNRRYRnYNzbx6Sk-mH48mB35-74Bc8jRrfFBDWXBdaAbrjsXPOQiclXJnYRpFLIGMRaWjC0KSoNqeY4y7jJk4tKwwkKPEjslOuSvuE0EILBUOYgFEClxhDHbskhhSt0IY7FRmPvB26W1advIYceGfnEu0k0U4SyXdMeIQPFpE9QOgmfgnj_z_r7Q7mk32I1hKV6wF9wQd65NX4GoILV0xUaVdrLBMJwSCj5R553Fl7bObgMR5Jt_xgLIDC3dtvwJ9bAe_efz3COo_ZrgKWlP3z70u8ZG1lFCN0BXDokTdXVBrLY1keskxET_-7XS_Jrfn-VH75ePj5GbmN_diR6nbJTvNzbZ8DCmv0izbe_gDenzGM |
| 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=Absence+of+the+Autophagy+Adaptor+SQSTM1%2Fp62+Causes+Childhood-Onset+Neurodegeneration+with+Ataxia%2C+Dystonia%2C+and+Gaze+Palsy&rft.jtitle=American+journal+of+human+genetics&rft.au=Haack%2C+TB&rft.au=Ignatius%2C+E&rft.au=Calvo-Garrido%2C+J&rft.au=Iuso%2C+A&rft.date=2016-09-01&rft.issn=0002-9297&rft.volume=99&rft.issue=3&rft.spage=735&rft_id=info:doi/10.1016%2Fj.ajhg.2016.06.026&rft.externalDocID=oai_swepub_ki_se_502961 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0002-9297&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0002-9297&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0002-9297&client=summon |