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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Biol Chem
Egile Nagusiak: Seifert, Wenke, Kühnisch, Jirko, Maritzen, Tanja, Lommatzsch, Stefanie, Hennies, Hans Christian, Bachmann, Sebastian, Horn, Denise, Haucke, Volker
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Biochemistry and Molecular Biology 2015
Gaiak:
Sarrera elektronikoa: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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