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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Seifert, Wenke, Kühnisch, Jirko, Maritzen, Tanja, Horn, Denise, Haucke, Volker, Hennies, Hans Christian
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Biochemistry and Molecular Biology 2011
Gaiak:
Molecular Bases of Disease
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak