Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Nature Genetics

Volumn 47, Issue 5, 2015, Pages 528-534

  Akizu, Naiara ^a,b,c   Cantagrel, Vincent ^d   Zaki, Maha S ^e   Al Gazali, Lihadh ^f   Wang, Xin ^a,b   Rosti, Rasim Ozgur ^a,b   Dikoglu, Esra ^a,b   Gelot, Antoinette Bernabe ^g,h   Rosti, Basak ^a,b   Vaux, Keith K ^a,b   Scott, Eric M ^a,b   Silhavy, Jennifer L ^a,b   Schroth, Jana ^a,b   Copeland, Brett ^a,b   Schaffer, Ashleigh E ^a,b   Gordts, Philip L S M ⁱ   Esko, Jeffrey D ⁱ   Buschman, Matthew D ^j   Field, Seth J ^j   Napolitano, Gennaro ^c   Abdel Salam, Ghada M ^e   Ozgul, R Koksal ^k   Saglroglu, Mahmut Samil ^l   Azam, Matloob ^m   Ismail, Samira ^e   Aglan, Mona ^e   Selim, Laila ⁿ   Mahmoud, Iman G ⁿ   Abdel Hadi, Sawsan ⁿ   Badawy, Amera El ⁿ   Sadek, Abdelrahim A ^o   Mojahedi, Faezeh ^p   Kayserili, Hulya ^q   Masri, Amira ^r   Bastaki, Laila ^s   Temtamy, Samia ^e   Müller, Ulrich ^c   Desguerre, Isabelle ^d   Casanova, Jean Laurent ^a,b,t   Dursun, Ali ^k   Gunel, Murat ^u   Gabriel, Stacey B ^v   De Lonlay, Pascale ^w   Gleeson, Joseph G ^a,b,x   more..

^a ROCKEFELLER UNIVERSITY   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c SCRIPPS RESEARCH INSTITUTE   (United States)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e NATIONAL RESEARCH CENTRE   (Egypt)

^f UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^g ARMAND TROUSSEAU HOSPITAL   (France)

^h Turing Center for Living Systems CENTURI Aix Marseille University   (France)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^k HACETTEPE UNIVERSITY   (Turkey)

^l SCIENTIFIC AND TECHNOLOGICAL RESEARCH COUNCIL OF TURKEY   (Turkey)

^m National University of Medical Sciences   (Pakistan)

ⁿ CAIRO UNIVERSITY   (Egypt)

^o Sohag University   (Egypt)

^p Mashhad Medical Genetic Counseling Center   (Iran)

^q ISTANBUL UNIVERSITY   (Turkey)

^r UNIVERSITY OF JORDAN   (Jordan)

^s Kuwait Maternity Hospital   (Kuwait)

^t IMAGINE INSTITUTE   (France)

^u YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^v BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^w UNIVERSITÉ PARIS DESCARTES   (France)

^x NEW YORK GENOME CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL; SORTING NEXIN; SORTING NEXIN 14; UNCLASSIFIED DRUG; SNX14 PROTEIN, HUMAN;

ALLELE; APOPTOSIS; ARTICLE; ATAXIA; AUTOPHAGOSOME; AUTOPHAGY; CEREBELLUM ATROPHY; CLEARANCE; FACIES; GENE MUTATION; HUMAN; INTELLECTUAL IMPAIRMENT; LYSOSOME; NONHUMAN; PRIORITY JOURNAL; ZEBRA FISH; ANIMAL; ATROPHY; CEREBELLUM; CEREBELLUM DISEASE; FEMALE; GENE FREQUENCY; GENETICS; INFANT; LOD SCORE; LYSOSOME STORAGE DISEASE; MALE; METABOLISM; MUTATION; PATHOLOGY; PHAGOSOME; PRESCHOOL CHILD; SPINOCEREBELLAR DEGENERATION; SYNDROME;

DANIO RERIO;

ANIMALS; ATROPHY; AUTOPHAGY; CEREBELLAR DISEASES; CEREBELLUM; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; HUMANS; INFANT; LOD SCORE; LYSOSOMAL STORAGE DISEASES; LYSOSOMES; MALE; MUTATION; PHAGOSOMES; SORTING NEXINS; SPINOCEREBELLAR ATAXIAS; SYNDROME; ZEBRAFISH;

EID: 84929134737     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3256     Document Type: Article

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