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Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth

Postnatal microcephaly, intellectual disability, and progressive retinal dystrophy are major features of autosomal recessive Cohen syndrome, which is caused by mutations in the gene COH1 (VPS13B). We have recently identified COH1 as a Golgi-enriched scaffold protein that contributes to the structura...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:J Biol Chem
Κύριοι συγγραφείς: Seifert, Wenke, Kühnisch, Jirko, Maritzen, Tanja, Lommatzsch, Stefanie, Hennies, Hans Christian, Bachmann, Sebastian, Horn, Denise, Haucke, Volker
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: American Society for Biochemistry and Molecular Biology 2015
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4319006/
https://ncbi.nlm.nih.gov/pubmed/25492866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M114.608174
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