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Article

Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes.

Cells - 31 Dec 2021

De Filippis Concetta, Napoli Barbara, Rigon Laura, Guarato Giulia, Bauer Reinhard, Tomanin Rosella, Orso Genny

Abstract excerpt

Deficit of the IDUA (α-L-iduronidase) enzyme causes the lysosomal storage disorder mucopolysaccharidosis type I (MPS I), a rare pediatric neurometabolic disease, due to pathological variants in the IDUA gene and is characterized by the accumulation of the undegraded mucopolysaccharides heparan sulfate and dermatan sulfate into lysosomes, with secondary cellular consequences that are still mostly unclarified....

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Identifiers

PMID: 35011691
DOI: 10.3390/cells11010129
PMCID: PMC8750945

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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.

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