ArticleEMBO molecular medicine2021
Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.
Article in EMBO molecular medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 32 citations in OpenAlex.
- Vps16 Attenuates Myocardial Ischemia/reperfusion Injury by Interacting with UVRAG and Activating Rab7.Cardiovascular drugs and therapy · 2026Article
- Severe neurodevelopmental phenotype with multisystem involvement in VPS16-related mucopolysaccharidosis-like syndrome.Neurogenetics · 2026Article
- Cellular and molecular changes in mucopolysaccharidosis-plus syndrome caused by a homozygous c.599G > C (p.Arg200Pro) variant of the VPS33A gene.Journal of applied genetics · 2026Article
- Advances in Therapies for Mucopolysaccharidoses.Current issues in molecular biology · 2026Review
- Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.Scientific reports · 2026Article
- Mutations in VPS18 lead to a neutrophil maturation defect associated with disturbed vesicle homeostasis.Cell death & disease · 2026Article
- Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Cell Trafficking Disorders Play an Important Role in the Pathogenesis of Skeletal Dysplasias.Turkish archives of pediatrics · 2025Article
- Mapping the genetic landscape of iron metabolism uncovers the SETD2 methyltransferase as a modulator of iron flux.Science advances · 2025Article
- Article
- Emerging Molecular-Genetic Families in Dystonia: Endosome-Autophagosome-Lysosome and Integrated Stress Response Pathways.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Unifying biology of neurodegeneration in lysosomal storage diseases.Journal of inherited metabolic disease · 2025Review
- HypomyelinatedInternational journal of molecular sciences · 2024Article
- Structure of the endosomal CORVET tethering complex.Nature communications · 2024Article
- HOPS, CORVET and newly-identified Hybrid tethering complexes contribute differentially towards multiple modes of endocytosis.Scientific reports · 2023Article
- A minimally invasive fin scratching protocol for fast genotyping and early selection of zebrafish embryos.Scientific reports · 2022Article
- High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.Human mutation · 2022Article
- Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.Human mutation · 2022Article
- Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a NovelInternational journal of molecular sciences · 2022Article
- PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.Annals of clinical and translational neurology · 2022Article
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Authors and funding
16 authors at 4 institutions in 3 countries.
Funding
Abstract
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 variant in VPS16, a gene encoding a subunit of the HOPS and CORVET complexes. The variant impaired normal mRNA splicing and led to an ~85% reduction in VPS16 protein levels in patient-derived fibroblasts. Levels of other HOPS/CORVET subunits, including VPS33A, were similarly reduced, but restored upon re-expression of VPS16. Patient-derived fibroblasts showed defects in the uptake and endosomal trafficking of transferrin as well as accumulation of autophagosomes and lysosomal compartments. Re-expression of VPS16 rescued the cellular phenotypes. Zebrafish with disrupted vps16 expression showed impaired development, reduced myelination, and a similar accumulation of lysosomes and autophagosomes in the brain, particularly in glia cells. This disorder resembles previously reported patients with mutations in VPS33A, thus expanding the family of mucopolysaccharidosis-like diseases that result from mutations in HOPS/CORVET subunits.
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