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

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

3 May 2021

Abstract excerpt

Lysosomal storage diseases, including mucopolysaccharidoses, result from genetic defects that impair lysosomal catabolism. Here, we describe two patients from two independent families presenting with progressive psychomotor regression, delayed myelination, brain atrophy, neutropenia, skeletal abnormalities, and mucopolysaccharidosis-like dysmorphic features. Both patients were homozygous for the same intronic...

Read the complete abstract on PubMed

Topics

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

Share to Cellular transport and secretion
Share to Erythrocyte Function and Pathophysiology
Share to Lysosomal Storage Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33938619
DOI: 10.15252/emmm.202013376

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

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like diseasePMID 33938619Read ↗

Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.Semantic proximity Read ↗

Hypomyelinated vps16 Mutant Zebrafish Exhibit Systemic and Neurodevelopmental Pathologies.Semantic proximity Read ↗

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.Semantic proximity Read ↗

Novel Variants in the SLC16A2 Gene Associated With Allan-Herndon-Dudley Syndrome in China.Semantic proximity Read ↗

From Gene to Pathways: Understanding Novel Vps51 Variant and Its Cellular ConsequencesSemantic proximity Read ↗

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.Semantic proximity Read ↗

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

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

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.Semantic proximity Read ↗

Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.Semantic proximity Read ↗

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.Semantic proximity Read ↗

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.Semantic proximity Read ↗

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