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Article

Molecular mechanisms of the ambroxol action in Gaucher disease and GBA1 mutation-associated Parkinson disease.

Neurochemistry international - 1 Sept 2024

Cyske Zuzanna, Gaffke Lidia, Rintz Estera, Wiśniewska Karolina, Węgrzyn Grzegorz, Pierzynowska Karolina

Abstract excerpt

Glucocerebrosidase (GCase), encoded by the GBA1 gene, is one of the lysosomal enzymes responsible for hydrolyzing the glycosphingolipids. Deficiency in GCase activity (in patients with two defective alleles of GBA1) leads to glucosylceramide storage in lysosomes which in turn results in the development of the Gaucher diseases, a lysosomal storage disorder, while a heterozygous state may be correlated with the...

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PMID: 38797393
DOI: 10.1016/j.neuint.2024.105774

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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