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Article

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 - 1 Sept 2026

Cyske Zuzanna, Rintz Estera, Narajczyk Magdalena, Świątek Natalia, Gaffke Lidia, Pierzynowska Karolina, Węgrzyn Grzegorz

Abstract excerpt

Mucopolysaccharidosis-plus syndrome (MPSPS) is an ultrarare inherited metabolic disease (a few dozen patients diagnosed to date) which is characterised by accumulation of undegraded glycosaminoglycans (GAGs). Despite GAG storage occurs also in the groups of diseases classified as mucopolysaccharidoses (MPS), contrary to MPS, no dysfunctions of lysosomal enzymes is detected in MPSPS which is caused by mutations in...

Read the complete abstract on PubMed

Topics

Humans
Vesicular Transport Proteins
Homozygote
Fibroblasts
Mucopolysaccharidoses
Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Glycosaminoglycans

Source

Open in PubMed Open full text

Identifiers

PMID: 40758165
DOI: 10.1007/s13353-025-00997-x
PMCID: PMC13534158

Genes

VPS33A
EEA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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