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Article

Effects of GBA1 Variants and Prenatal Exposition on the Glucosylsphingosine (Lyso-Gb1) Levels in Gaucher Disease Carriers.

International journal of molecular sciences - 8 Nov 2024

Szymańska-Rożek Paulina, Lipiński Patryk, Kleinotiene Grazina, Dubiela Paweł, Tylki-Szymańska Anna

Abstract excerpt

Gaucher disease (GD) is a lysosomal lipid storage disorder caused by β-glucocerebrosidase (encoded by GBA1 gene) activity deficiency, resulting in the accumulation of glucosylceramide (Gb1) and its deacylated metabolite glucosylsphingosine (lyso-Gb1). Lyso-Gb1 has been studied previously and proved to be a sensitive biomarker, distinguishing patients with GD from carriers and healthy subjects. It was shown that...

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PMID: 39596090
DOI: 10.3390/ijms252212021
PMCID: PMC11593516

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