Intermembrane lipid transfer protein VPS13B
Definition:
References:
-
[1]. Laurence Duplomb, et al. Cohen syndrome is associated with major glycosylation defects. Hum Mol Genet. 2014 May 1;23(9):2391-9. [Content Brief]
[2]. Seiichi Koike, et al. SNAREs define targeting specificity of trafficking vesicles by combinatorial interaction with tethering factors. Nat Commun. 2019 Apr 8;10(1):1608. [Content Brief]
[3]. You-Kyung Lee, et al. Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations. Mol Brain. 2020 May 6;13(1):69. [Content Brief]
[4]. Wenke Seifert, et al. Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. J Biol Chem. 2011 Oct 28;286(43):37665-75. [Content Brief]
[5]. Floriane Limoge, et al. Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome. Hum Mol Genet. 2015 Dec 1;24(23):6603-13. [Content Brief]
[6]. Wenke Seifert, et al. Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. J Biol Chem. 2015 Feb 6;290(6):3349-58. [Content Brief]
[7]. You-Kyung Lee, et al. Cohen Syndrome Patient iPSC-Derived Neurospheres and Forebrain-Like Glutamatergic Neurons Reveal Reduced Proliferation of Neural Progenitor Cells and Altered Expression of Synapse Genes. J Clin Med. 2020 Jun 16;9(6):1886. [Content Brief]
Molarity Calculator
Dilution Calculator
