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Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity

Loss-of-function mutations in the gene COH1, also known as VPS13B, lead to autosomal recessive Cohen syndrome. However, the cellular distribution and function of the encoded protein COH1 (3997 amino acids), which lacks functional homologies to other mammalian proteins, have remained enigmatic. We sh...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Seifert, Wenke, Kühnisch, Jirko, Maritzen, Tanja, Horn, Denise, Haucke, Volker, Hennies, Hans Christian
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: American Society for Biochemistry and Molecular Biology 2011
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3199510/
https://ncbi.nlm.nih.gov/pubmed/21865173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.267971
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