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Article

Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells.

Human molecular genetics - 15 Sept 2011

Lemonnier Thomas, Blanchard Stéphane, Toli Diana, Roy Elise, Bigou Stéphanie, Froissart Roseline, Rouvet Isabelle, Vitry Sandrine, Heard Jean Michel, Bohl Delphine

Abstract excerpt

By providing access to affected neurons, human induced pluripotent stem cells (iPSc) offer a unique opportunity to model human neurodegenerative diseases. We generated human iPSc from the skin fibroblasts of children with mucopolysaccharidosis type IIIB. In this fatal lysosomal storage disease, defective α-N-acetylglucosaminidase interrupts the degradation of heparan sulfate (HS) proteoglycans and induces cell...

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PMID: 21685203
DOI: 10.1093/hmg/ddr285

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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