A formalization of one of the main claims of “Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway” by Enns et al. 2014
Enns et al. claimed in previous work that NGLY1 deficiency is a novel autosomal recessive disorder of the ERAD pathway. We present here a formalization of that claim, stating that all things of class “NGLY1 deficiency” that are in the context of a thing of class “human” always have a relation of typ...
Saved in:
| Published in | Data Science Vol. 5; no. 1; pp. 57 - 59 |
|---|---|
| Main Author | |
| Format | Journal Article |
| Language | English |
| Published |
22.03.2022
|
| Online Access | Get full text |
| ISSN | 2451-8484 2451-8492 |
| DOI | 10.3233/DS-210048 |
Cover
| Abstract | Enns et al. claimed in previous work that NGLY1 deficiency is a novel autosomal recessive disorder of the ERAD pathway. We present here a formalization of that claim, stating that all things of class “NGLY1 deficiency” that are in the context of a thing of class “human” always have a relation of type “is caused by” to a thing of class “dysfunction of ERAD pathway” in the same context. |
|---|---|
| AbstractList | Enns et al. claimed in previous work that NGLY1 deficiency is a novel autosomal recessive disorder of the ERAD pathway. We present here a formalization of that claim, stating that all things of class “NGLY1 deficiency” that are in the context of a thing of class “human” always have a relation of type “is caused by” to a thing of class “dysfunction of ERAD pathway” in the same context. |
| Author | Queralt-Rosinach, Núria |
| Author_xml | – sequence: 1 givenname: Núria orcidid: 0000-0003-0169-8159 surname: Queralt-Rosinach fullname: Queralt-Rosinach, Núria organization: Leiden University Medical Center, Leiden, The Netherlands |
| BookMark | eNo9UMtOwzAQtFCRKKUH_sBXDil-pIl9rNpSkAocgAOnaGs71CiJKzsRKqf-A1f4Cv6oX0LaAqfZnd2dWc0p6lSuMgidUzLgjPPLyUPEKCGxOEJdFg9pJGLJOv-1iE9QP4RXQggTkvIh6aLvEc6dL6Gw71BbV2GX41Z0B_XS4BJshVUBtgw7arv5vG3q_WLA7eRuNn-mWEETDIaqZZbG29porG1wXhv_p2Mq7VYFhNIq7E1tVVM05XbzASE4ZWF_Yl486MMTK6iXb7Debr7wYo2nVetmagzFADNC4zN0nEMRTP8Xe-jpavo4vo7m97Ob8WgeKcqliNJcai4XSSKk1pxIOkwTaDtFcp1IqZUWoBdgBKEpi3UKiTAMEpC54oQLyXvo4qCrvAvBmzxbeVuCX2eUZLvAs8lDdgic_wB3xnkv |
| Cites_doi | 10.1145/3460210.3493561 10.1038/gim.2014.22 |
| ContentType | Journal Article |
| Contributor | Bucur, Cristina-Iulia Kuhn, Tobias |
| Contributor_xml | – sequence: 1 givenname: Tobias orcidid: 0000-0002-1267-0234 surname: Kuhn fullname: Kuhn, Tobias – sequence: 2 givenname: Cristina-Iulia orcidid: 0000-0002-7114-6459 surname: Bucur fullname: Bucur, Cristina-Iulia |
| DBID | AAYXX CITATION |
| DOI | 10.3233/DS-210048 |
| DatabaseName | CrossRef |
| DatabaseTitle | CrossRef |
| DatabaseTitleList | CrossRef |
| DeliveryMethod | fulltext_linktorsrc |
| EISSN | 2451-8492 |
| EndPage | 59 |
| ExternalDocumentID | 10_3233_DS_210048 |
| GroupedDBID | AAYXX ACGFS ACHEB ACPQW ADZMO ALMA_UNASSIGNED_HOLDINGS CITATION EBS GROUPED_DOAJ H13 J8X SAUOL SCNPE SFC |
| ID | FETCH-LOGICAL-c1398-7f9d39b6689dd3091576a668c0fd699dcd8adbae801724d7a68e2a6a9fc303893 |
| ISSN | 2451-8484 |
| IngestDate | Tue Aug 05 12:15:08 EDT 2025 |
| IsDoiOpenAccess | false |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 1 |
| Language | English |
| LinkModel | OpenURL |
| MergedId | FETCHMERGED-LOGICAL-c1398-7f9d39b6689dd3091576a668c0fd699dcd8adbae801724d7a68e2a6a9fc303893 |
| ORCID | 0000-0003-0169-8159 |
| OpenAccessLink | https://content.iospress.com:443/download/data-science/ds210048?id=data-science%2Fds210048 |
| PageCount | 3 |
| ParticipantIDs | crossref_primary_10_3233_DS_210048 |
| PublicationCentury | 2000 |
| PublicationDate | 2022-03-22 |
| PublicationDateYYYYMMDD | 2022-03-22 |
| PublicationDate_xml | – month: 03 year: 2022 text: 2022-03-22 day: 22 |
| PublicationDecade | 2020 |
| PublicationTitle | Data Science |
| PublicationYear | 2022 |
| References | ref001 ref002 |
| References_xml | – ident: ref001 doi: 10.1145/3460210.3493561 – ident: ref002 doi: 10.1038/gim.2014.22 |
| SSID | ssj0002891350 |
| Score | 2.1768134 |
| Snippet | Enns et al. claimed in previous work that NGLY1 deficiency is a novel autosomal recessive disorder of the ERAD pathway. We present here a formalization of that... |
| SourceID | crossref |
| SourceType | Index Database |
| StartPage | 57 |
| Title | A formalization of one of the main claims of “Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway” by Enns et al. 2014 |
| Volume | 5 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3NbhMxELZCuXBBIED8a4S4VVuSXe_fMTQtFaI50FYqp2jW9oqiZFO1G6FyyjtwBfEQvFGehJn1ruO2HAqXTeK1vdrMJ8-Px98I8VphZorU6CAtQ3JQqE-A0vQDmaYpV0CSaVO9YX-c7B3J98fxca_3y8taWtTFlvr213Ml_yNVaiO58inZf5Csm5Qa6DvJl64kYbreSMZDe_Zw2p6lZMNvXrlt_xlyjvkUT2ZNukaX1rC9v6jXGeTjdx8-DTYVLs55H4Fa-DwgW6G6peXsZjOVnp-SqT1rOJ9rGzbs5oywlTIPZPoJW6mJWVs_f8WLrtuIjd2dip7cRJq3NskukL55PMIau-XGC8me4bQOPs7PTyq0lavGvL__dmhTpF3UghzefhSEXiAzlPEgyCyPKekhvy2_tDrH10BoV1pLa93qbEsqflUbRCFHq3dHB0HIvHjZWuV12_xXNKHLTyTPiAdPRgcTO_SWuB0SeBPPZ_9id2kHUVMF2L2PZa_i0W_cgz2bxzNeDu-Ju63XAUMLofuiZ6oH4vcQLsEH5iUQfPiDBA4MH7Dw4abV8ocDDtCdBjjQAAewAgcc6IDTzeMBBxxwVsvva8iABxloIbNa_oTiAhgsYGogsACD5aE42t053N4L2hoegSLfIqMlINdRXiRJlmsdkXFK_i3SL9UvdZLnWukMdYEm41iE1CkmmQkxwbxUEXM_Ro_ERkXv_lhARnfisuwrbVKJBgsjixhLjXmhVaTKJ-JV9y9PTi1Vy-SaIJ_epNMzcWeN2edioz5bmBdke9bFy0b-fwDuuIiR |
| linkProvider | Directory of Open Access Journals |
| 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=A+formalization+of+one+of+the+main+claims+of+%E2%80%9CMutations+in+NGLY1+cause+an+inherited+disorder+of+the+endoplasmic+reticulum%E2%80%93associated+degradation+pathway%E2%80%9D+by+Enns+et+al.+2014&rft.jtitle=Data+Science&rft.au=Queralt-Rosinach%2C+N%C3%BAria&rft.date=2022-03-22&rft.issn=2451-8484&rft.eissn=2451-8492&rft.volume=5&rft.issue=1&rft.spage=57&rft.epage=59&rft_id=info:doi/10.3233%2FDS-210048&rft.externalDBID=n%2Fa&rft.externalDocID=10_3233_DS_210048 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=2451-8484&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=2451-8484&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=2451-8484&client=summon |