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Article

Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.

International journal of molecular sciences - 16 Jun 2024

Pavan Eleonora, Peruzzo Paolo, Cattarossi Silvia, Bergamin Natascha, Bordugo Andrea, Sechi Annalisa, Scarpa Maurizio, Biasizzo Jessica, Colucci Fabiana, Dardis Andrea

Abstract excerpt

Glucocerebrosidase (GCase) is a lysosomal enzyme that catalyzes the breakdown of glucosylceramide in the presence of its activator saposin C (SapC). SapC arises from the proteolytical cleavage of prosaposin (encoded by PSAP gene), which gives rise to four saposins. GCase is targeted to the lysosomes by LIMP-2, encoded by SCARB2 gene. GCase deficiency causes Gaucher Disease (GD), which is mainly due to biallelic...

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Identifiers

PMID: 38928321
DOI: 10.3390/ijms25126615
PMCID: PMC11204053

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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