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Article

Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency.

Disease models & mechanisms - 1 Jun 2023

Keatinge Marcus, Gegg Matthew E, Watson Lisa, Mortiboys Heather, Li Nan, Dunning Mark, Ailani Deepak, Bui Hai, van Rens Astrid, Lefeber Dirk J, Schapira Anthony H V, MacDonald Ryan B, Bandmann Oliver

Abstract excerpt

Heterozygous variants in GBA1, encoding glucocerebrosidase (GCase), are the most common genetic risk factor for Parkinson's disease (PD). Moreover, sporadic PD patients also have a substantial reduction of GCase activity. Genetic variants of SMPD1 are also overrepresented in PD cohorts, whereas a reduction of its encoded enzyme (acid sphingomyelinase or ASM) activity is linked to an earlier age of PD onset....

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PMID: 36951087
DOI: 10.1242/dmm.049954
PMCID: PMC10184672

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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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