Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome...
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
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Author / Creator
Akizu, Naiara , Cantagrel, Vincent , Zaki, Maha S , Al-Gazali, Lihadh , Wang, Xin , Rosti, Rasim Ozgur , Dikoglu, Esra , Gelot, Antoinette Bernabe , Rosti, Basak , Vaux, Keith K , Scott, Eric M , Silhavy, Jennifer L , Schroth, Jana , Copeland, Brett , Schaffer, Ashleigh E , Gordts, Philip L S M , Esko, Jeffrey D , Buschman, Matthew D , Field, Seth J , Napolitano, Gennaro , Abdel-Salam, Ghada M , Ozgul, R Koksal , Sagıroglu, Mahmut Samil , Azam, Matloob , Ismail, Samira , Aglan, Mona , Selim, Laila , Mahmoud, Iman G , Abdel-Hadi, Sawsan , Badawy, Amera El , Sadek, Abdelrahim A , Mojahedi, Faezeh , Kayserili, Hulya , Masri, Amira , Bastaki, Laila , Temtamy, Samia , Müller, Ulrich , Desguerre, Isabelle , Casanova, Jean-Laurent , Dursun, Ali , Gunel, Murat , Gabriel, Stacey B , de Lonlay, Pascale and Gleeson, Joseph G
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
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More information
Scope and Contents
Contents
Joseph Gleeson and colleagues report that biallelic mutations in
SNX14
cause a syndromic form of cerebellar atrophy marked by lysosome-autophagosome dysfunction. Their findings suggest a role for SNX14 in mediating lysosome-autophagosome fusion.
Pediatric-onset ataxias often present clinically as developmental delay and intellectual disabi...
Alternative Titles
Full title
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
Authors, Artists and Contributors
Author / Creator
Cantagrel, Vincent
Zaki, Maha S
Al-Gazali, Lihadh
Wang, Xin
Rosti, Rasim Ozgur
Dikoglu, Esra
Gelot, Antoinette Bernabe
Rosti, Basak
Vaux, Keith K
Scott, Eric M
Silhavy, Jennifer L
Schroth, Jana
Copeland, Brett
Schaffer, Ashleigh E
Gordts, Philip L S M
Esko, Jeffrey D
Buschman, Matthew D
Field, Seth J
Napolitano, Gennaro
Abdel-Salam, Ghada M
Ozgul, R Koksal
Sagıroglu, Mahmut Samil
Azam, Matloob
Ismail, Samira
Aglan, Mona
Selim, Laila
Mahmoud, Iman G
Abdel-Hadi, Sawsan
Badawy, Amera El
Sadek, Abdelrahim A
Mojahedi, Faezeh
Kayserili, Hulya
Masri, Amira
Bastaki, Laila
Temtamy, Samia
Müller, Ulrich
Desguerre, Isabelle
Casanova, Jean-Laurent
Dursun, Ali
Gunel, Murat
Gabriel, Stacey B
de Lonlay, Pascale
Gleeson, Joseph G
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4414867
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4414867
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.3256
