Article
Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy.
Biomolecules - 3 Apr 2023
Dubiela Paweł, Szymańska-Rożek Paulina, Eljaszewicz Andrzej, Lipiński Patryk, Hasiński Piotr, Giersz Dorota, Walewska Alicja, Tynecka Marlena, Moniuszko Marcin, Tylki-Szymańska Anna
Abstract excerpt
Gaucher disease (GD) is the most frequent sphingolipidosis, caused by biallelic pathogenic variants in the GBA1 gene encoding for β-glucocerebrosidase (GCase, E.C. 3.2.1.45). The condition is characterized by hepatosplenomegaly, hematological abnormalities, and bone disease in both non-neuronopathic type 1 (GD1) and neuronopathic type 3 (GD3). Interestingly, GBA1 variants were found to be one of the most...
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