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Article

CRISPR/Cas9 Editing for Gaucher Disease Modelling.

International journal of molecular sciences - 5 May 2020

Pavan Eleonora, Ormazabal Maximiliano, Peruzzo Paolo, Vaena Emilio, Rozenfeld Paula, Dardis Andrea

Abstract excerpt

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the acid β-glucosidase gene (GBA1). Besides causing GD, GBA1 mutations constitute the main genetic risk factor for developing Parkinson's disease. The molecular basis of neurological manifestations in GD remain elusive. However, neuroinflammation has been proposed as a key player in this process. We exploited...

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Identifiers

PMID: 32380730
DOI: 10.3390/ijms21093268
PMCID: PMC7246564

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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