Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The lysosomal disease caused by mutant VPS33A

9 Apr 2019

Abstract excerpt

A rare lysosomal disease resembling a mucopolysaccharidosis with unusual systemic features, including renal disease and platelet dysfunction, caused by the defect in a conserved region of the VPS33A gene on human chromosome 12q24.31, occurs in Yakuts-a nomadic Turkic ethnic group of Southern Siberia. VPS33A is a core component of the class C core vacuole/endosome tethering (CORVET) and the homotypic fusion and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcium signaling and nucleotide metabolism
Share to Cellular transport and secretion
Share to Lysosomal Storage Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31070736
DOI: 10.1093/hmg/ddz077

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The lysosomal disease caused by mutant VPS33APMID 31070736Read ↗

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.Semantic proximity Read ↗

Juvenile Mucopolysaccharidosis plus disease caused by a missense mutation in<i>VPS33A</i>Semantic proximity Read ↗

Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.Semantic proximity Read ↗

A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation.Semantic proximity Read ↗

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.Semantic proximity Read ↗

The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.Semantic proximity Read ↗

Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.Semantic proximity Read ↗

A yeast lysosomal biogenesis map uncovers the cargo spectrum of lysosomal protein targeting pathwaysSemantic proximity Read ↗

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.Semantic proximity Read ↗

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update onGNPTABandGNPTGmutationsSemantic proximity Read ↗

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.Semantic proximity Read ↗

Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.