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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...

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Bibliografski detalji
Izdano u:J Biol Chem
Glavni autori: Seifert, Wenke, Kühnisch, Jirko, Maritzen, Tanja, Lommatzsch, Stefanie, Hennies, Hans Christian, Bachmann, Sebastian, Horn, Denise, Haucke, Volker
Format: Artigo
Jezik:Inglês
Izdano: American Society for Biochemistry and Molecular Biology 2015
Teme:
Online pristup: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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