Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
about
Progressive familial intrahepatic cholestasisMutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarizationRILP interacts with HOPS complex via VPS41 subunit to regulate endocytic traffickingSPE-39 family proteins interact with the HOPS complex and function in lysosomal deliveryStructural basis of Vps33A recruitment to the human HOPS complex by Vps16Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomesRecruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and AutophagosomesInhibitory effect of SPE-39 due to tyrosine phosphorylation and ubiquitination on the function of Vps33B in the EGF-stimulated cellsLethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathwayA mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratodermaCargos and genes: insights into vesicular transport from inherited human diseaseInherited platelet disorders: toward DNA-based diagnosisEmerging Insights into the Roles of Membrane Tethers from Analysis of Whole Organisms: The Tip of an Iceberg?Charcot-Marie-Tooth disease and intracellular trafficArthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical featuresHOPS prevents the disassembly of trans-SNARE complexes by Sec17p/Sec18p during membrane fusionRegulation of post-Golgi LH3 trafficking is essential for collagen homeostasisVPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytesCurrent Strategies in Diagnosis of Inherited Storage Pool DefectsInherited platelet disorders: a clinical approach to diagnosis and management.On the growth of scientific knowledge: yeast biology as a case studyHematopoietic transcription factor mutations and inherited platelet dysfunction.Inherited platelet dysfunction and hematopoietic transcription factor mutations.Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management.α-granule biogenesis: from disease to discovery.Loss of SNAP29 impairs endocytic recycling and cell motilityMembrane tetheringPlatelets and cancer: a casual or causal relationship: revisited.Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse.Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.The full-of-bacteria gene is required for phagosome maturation during immune defense in Drosophila.CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.The Vps39-like TRAP1 is an effector of Rab5 and likely the missing Vps3 subunit of human CORVETMutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)Metazoan cell biology of the HOPS tethering complexGenetics of familial intrahepatic cholestasis syndromes.Abnormal expression of NSF, α-SNAP and SNAP23 in pulmonary arterial hypertension in rats treated with monocrotaline.Genetic modifiers of the Drosophila blue cheese gene link defects in lysosomal transport with decreased life span and altered ubiquitinated-protein profiles.Mechanisms of protein delivery to melanosomes in pigment cells.
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P2860
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
description
2004 nî lūn-bûn
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2004 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2004 թվականի ապրիլին հրատարակված գիտական հոդված
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2004年の論文
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name
Mutations in VPS33B, encoding ...... ion-cholestasis (ARC) syndrome
@ast
Mutations in VPS33B, encoding ...... ion-cholestasis (ARC) syndrome
@en
Mutations in VPS33B, encoding ...... ion-cholestasis (ARC) syndrome
@en-gb
Mutations in VPS33B, encoding ...... ion-cholestasis (ARC) syndrome
@nl
type
label
Mutations in VPS33B, encoding ...... ion-cholestasis (ARC) syndrome
@ast
Mutations in VPS33B, encoding ...... ion-cholestasis (ARC) syndrome
@en
Mutations in VPS33B, encoding ...... ion-cholestasis (ARC) syndrome
@en-gb
Mutations in VPS33B, encoding ...... ion-cholestasis (ARC) syndrome
@nl
prefLabel
Mutations in VPS33B, encoding ...... ion-cholestasis (ARC) syndrome
@ast
Mutations in VPS33B, encoding ...... ion-cholestasis (ARC) syndrome
@en
Mutations in VPS33B, encoding ...... ion-cholestasis (ARC) syndrome
@en-gb
Mutations in VPS33B, encoding ...... ion-cholestasis (ARC) syndrome
@nl
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Mutations in VPS33B, encoding ...... ion-cholestasis (ARC) syndrome
@en
P2093
A S Knisely
Andrew A M Morris
Colin A Johnson
Deirdre A Kelly
Hanna Mandel
James E Wraith
Janneke M Stapelbroek
Leo W J Klomp
Maja Di Rocco
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P2888
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P356
10.1038/NG1325
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P50
P577
2004-04-01T00:00:00Z
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1038437988