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Human iPSC-based neurodevelopmental models of globoid cell leukodystrophy uncover patient- and cell type-specific disease phenotypes.

Stem cell reports - 8 Jun 2021

Mangiameli Elisabeth, Cecchele Anna, Morena Francesco, Sanvito Francesca, Matafora Vittoria, Cattaneo Angela, Della Volpe Lucrezia, Gnani Daniela, Paulis Marianna, Susani Lucia, Martino Sabata, Di Micco Raffaella, Bachi Angela, Gritti Angela

Abstract excerpt

Globoid cell leukodystrophy (GLD) is a rare neurodegenerative lysosomal storage disease caused by an inherited deficiency of β-galactocerebrosidase (GALC). GLD pathogenesis and therapeutic correction have been poorly studied in patient neural cells. Here, we investigated the impact of GALC deficiency and lentiviral vector-mediated GALC rescue/overexpression in induced pluripotent stem cell (iPSC)-derived neural...

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Identifiers

PMID: 33989519
DOI: 10.1016/j.stemcr.2021.04.011
PMCID: PMC8190599

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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