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Article

A Drosophila model of mucopolysaccharidosis IIIB.

Genetics - 17 Mar 2025

Simkhada Bibhu, Nazario-Yepiz Nestor O, Freymuth Patrick S, Lyman Rachel A, Shankar Vijay, Wiggins Kali, Flanagan-Steet Heather, Basu Amrita, Weiss Ryan J, Anholt Robert R H, Mackay Trudy F C

Abstract excerpt

Mucopolysaccharidosis type IIIB is a rare lysosomal storage disorder caused by defects in alpha-N-acetylglucosaminidase (NAGLU) and characterized by severe effects in the central nervous system. Mutations in NAGLU cause accumulation of partially degraded heparan sulfate in lysosomes. The consequences of these mutations on whole-genome gene expression and their causal relationships to neural degeneration remain...

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Identifiers

PMID: 39737777
DOI: 10.1093/genetics/iyae219
PMCID: PMC11912869

Genes

NAGLU

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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