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Article

Acid ceramidase involved in pathogenic cascade leading to accumulation of α-synuclein in iPSC model of GBA1-associated Parkinson's disease.

Human molecular genetics - 18 May 2023

Kumar Manoj, Srikanth Manasa P, Deleidi Michela, Hallett Penelope J, Isacson Ole, Feldman Ricardo A

Abstract excerpt

Bi-allelic mutations in GBA1, the gene that encodes β-glucocerebrosidase (GCase), cause Gaucher disease (GD), whereas mono-allelic mutations do not cause overt pathology. Yet mono- or bi-allelic GBA1 mutations are the highest known risk factor for Parkinson's disease (PD). GCase deficiency results in the accumulation of glucosylceramide (GluCer) and its deacylated metabolite glucosylsphingosine (GluSph). Brains...

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Identifiers

PMID: 36752535
DOI: 10.1093/hmg/ddad025
PMCID: PMC10196677

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