ArticleHuman molecular genetics2013
Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 31 citations in OpenAlex.
- Article
- UtilizingJournal of developmental biology · 2025Review
- Endocytic recycling is central to circadian collagen fibrillogenesis and disrupted in fibrosis.eLife · 2025Article
- Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a NovelFrontiers in genetics · 2022Article
- Network analysis in aged C. elegans reveals candidate regulatory genes of ageing.Biogerontology · 2021Article
- Hypersensitivity of Vps33B mutant flies to non-pathogenic infections is dictated by aberrant activation of p38b MAP kinase.Traffic (Copenhagen, Denmark) · 2020Article
- Diversification of CORVET tethers facilitates transport complexity inJournal of cell science · 2020Article
- Review
- ARC Syndrome-Linked Vps33B Protein Is Required for Inflammatory Endosomal Maturation and Signal Termination.Immunity · 2016Article
- Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis.Nature communications · 2016Article
- Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity.The Journal of biological chemistry · 2015Article
- Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes.Traffic (Copenhagen, Denmark) · 2015Article
- Loss of the Sec1/Munc18-family proteins VPS-33.2 and VPS-33.1 bypasses a block in endosome maturation in Caenorhabditis elegans.Molecular biology of the cell · 2014Article
- Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.Italian journal of pediatrics · 2014Review
- The Vps39-like TRAP1 is an effector of Rab5 and likely the missing Vps3 subunit of human CORVET.Cellular logisticsArticle
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
Abstract
Mutations in Vps33 isoforms cause pigment dilution in mice (Vps33a, buff) and Drosophila (car) and the neurogenic arthrogryposis, renal dysfunction and cholestasis syndrome in humans (ARC1, VPS33B). The later disease is also caused by mutations in VIPAS39, (Vps33b interacting protein, apical-basolateral polarity regulator, SPE-39 homolog; ARC2), a protein that interacts with the HOmotypic fusion and Protein Sorting (HOPS) complex, a tether necessary for endosome-lysosome traffic. These syndromes offer insight into fundamental endosome traffic processes unique to metazoans. However, the molecular and cellular mechanisms underlying these mutant phenotypes remain poorly understood. Here we investigate interactions of wild-type and disease-causing mutations in VIPAS39/SPE-39 and Vps33b by yeast two hybrid, immunoprecipitation and quantitative fluorescent microscopy. We find that although few mutations prevent interaction between VIPAS39/SPE-39 and Vps33b, some mutants fragment VIPAS39/SPE-39-positive endosomes, but all mutants alter the subcellular localization of Vps33b to VIPAS39/SPE-39-positive endosomes. Our data suggest that the ARC syndrome may result through impaired VIPAS39/SPE-39 and Vps33b-dependent endosomal maturation or fusion.
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