Associated Papers
The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B.
Liu RJY et al.
The Journal of Biological Chemistry, 2023
Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome.
Penon-Portmann M et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant.
Linhares ND et al.
Frontiers in Genetics, 2022
35281816 (PubMed )
Supplement: Table1.XLSX › Supp_Table_1
A Link between Intrahepatic Cholestasis and Genetic Variations in Intracellular Trafficking Regulators.
Li Q et al.
Biology, 2021
Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity.
van der Kant R et al.
The Journal of Biological Chemistry, 2015
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.
Zhou Y et al.
Italian Journal of Pediatrics, 2014
[The progress in molecular genetics and clinical features of arthrogryposis-renal tubular dysfunction-cholestasis syndrome].
Lan T et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Late endosomal transport and tethering are coupled processes controlled by RILP and the cholesterol sensor ORP1L.
van der Kant R et al.
Journal of Cell Science, 2013
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Smith H et al.
Human Mutation, 2012
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
Cullinane AR et al.
Nature Genetics, 2010
Clinical and molecular genetic features of ARC syndrome.
Gissen P et al.
Human Genetics, 2006
Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights.
Gissen P et al.
Human Molecular Genetics, 2005
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Gissen P et al.
Nature Genetics, 2004
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