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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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Dettagli Bibliografici
Pubblicato in:J Biol Chem
Autori principali: Seifert, Wenke, Kühnisch, Jirko, Maritzen, Tanja, Lommatzsch, Stefanie, Hennies, Hans Christian, Bachmann, Sebastian, Horn, Denise, Haucke, Volker
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Biochemistry and Molecular Biology 2015
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Accesso 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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