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 use of genistein and ambroxol may be an effective approach in correcting cellular dysfunctions of mucopolysaccharidosis-plus syndrome.

Mammalian genome : official journal of the International Mammalian Genome Society - 27 Nov 2025

Cyske Zuzanna, Rintz Estera, Gaffke Lidia, Pierzynowska Karolina, Węgrzyn Grzegorz

Abstract excerpt

Mucopolysaccharidosis-plus syndrome (MPS plus or MPSPS) is an ultrarare inherited metabolic disease, caused by mutations in the VPS33A gene. Like in different types of mucopolysaccharidosis (MPS), glycosaminoglycan (GAG) storage in cells of patients is evident. However, unlike MPS, the genetic defects in MPSPS cause impairment in the VPS33A protein level rather than inactivation of lysosomal hydrolases...

Read the complete abstract on PubMed

Topics

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

Share to Endoplasmic Reticulum-Associated Degradation
Share to Endosomes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genistein

Share to Glycosaminoglycans

Share to Lysosomes

Share to Proteasome Endopeptidase Complex

Share to Proteolysis

Share to Vesicular Transport Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 41310305
DOI: 10.1007/s00335-025-10176-2
PMCID: PMC12660470

Genes

VPS33A

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 use of genistein and ambroxol may be an effective approach in correcting cellular dysfunctions of mucopolysaccharidosis-plus syndrome.PMID 41310305Read ↗

The use of genistein and ambroxol is an effective approach in correcting cellular dysfunctions of mucopolysaccharidosis-plus syndromeSemantic proximity Read ↗

Modulation of expression of genes involved in glycosaminoglycan metabolism and lysosome biogenesis by flavonoidsSemantic proximity Read ↗

The Phytoestrogen Genistein Modulates Lysosomal Metabolism and Transcription Factor EB (TFEB) ActivationSemantic proximity Read ↗

Pharmacological Chaperones for the MucopolysaccharidosesSemantic proximity Read ↗

Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses.Semantic proximity Read ↗

Underestimated Aspect of Mucopolysaccharidosis Pathogenesis: Global Changes in Cellular Processes Revealed by Transcriptomic Studies.Semantic proximity Read ↗

17-AAG increases autophagic removal of mutant androgen receptor in spinal and bulbar muscular atrophy.Semantic proximity Read ↗

The Role of Dimethyl Sulfoxide (DMSO) in Gene Expression Modulation and Glycosaminoglycan Metabolism in Lysosomal Storage Disorders on an Example of MucopolysaccharidosisSemantic proximity Read ↗

Expression of genes involved in apoptosis is dysregulated in mucopolysaccharidoses as revealed by pilot transcriptomic analysesSemantic proximity Read ↗

Gene Expression-Related Changes in Morphologies of Organelles and Cellular Component Organization in MucopolysaccharidosesSemantic proximity Read ↗

Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated.Semantic proximity Read ↗

Mucopolysaccharidosis-Plus Syndrome: Is This a Type of Mucopolysaccharidosis or a Separate Kind of Metabolic Disease?Semantic proximity Read ↗

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