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

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

International journal of molecular sciences - 11 Feb 2020

Gaffke Lidia, Pierzynowska Karolina, Podlacha Magdalena, Hoinkis Dżesika, Rintz Estera, Brokowska Joanna, Cyske Zuzanna, Wegrzyn Grzegorz

Abstract excerpt

Mucopolysaccharidoses (MPS), a group of inherited metabolic disorders caused by deficiency in enzymes involved in degradation of glycosaminoglycans (GAGs), are examples (and models) of monogenic diseases. Accumulation of undegraded GAGs in lysosomes was supposed to be the major cause of MPS symptoms; however, their complexity and variability between particular types of the disease can be hardly explained by such...

Read the complete abstract on PubMed

Topics

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

Share to Cell Line
Share to Fibroblasts

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

Share to Gene Expression Regulation

Share to Glycogen Storage Diseases and Myoclonus

Share to Glycosaminoglycans

Share to Lysosomal Storage Disorders Research

Share to Mutation

Share to Transcriptome

Source

Open in PubMed Open full text

Identifiers

PMID: 32054071
DOI: 10.3390/ijms21041204
PMCID: PMC7072725

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Underestimated Aspect of Mucopolysaccharidosis Pathogenesis: Global Changes in Cellular Processes Revealed by Transcriptomic Studies.PMID 32054071Read ↗

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

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

Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I.Semantic proximity Read ↗

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse ModelSemantic proximity Read ↗

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter studySemantic proximity Read ↗

Mucopolysaccharidosis III: Molecular basis and treatment.Semantic proximity Read ↗

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchartSemantic proximity Read ↗

Mucopolysacccharidoses: from understanding to treatment, a century of discoveriesSemantic proximity Read ↗

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology.Semantic proximity Read ↗

Urine proteome uncover common mechanism between mucopolysaccharidosis type I and IISemantic proximity Read ↗

Transcriptomic analyses suggest that mucopolysaccharidosis patients may be less susceptible to COVID-19.Semantic proximity Read ↗

[Mucopolysaccharidoses].Semantic proximity Read ↗

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