Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy

Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy

Gaucher disease (GD) is the most frequent sphingolipidosis, caused by biallelic pathogenic variants in the <i>GBA1</i> gene encoding for β-glucocerebrosidase (GCase, E.C. 3.2.1.45). The condition is characterized by hepatosplenomegaly, hematological abnormalities, and bone disease in bot...

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Bibliographic Details
Main Authors: Paweł Dubiela, Paulina Szymańska-Rożek, Andrzej Eljaszewicz, Patryk Lipiński, Piotr Hasiński, Dorota Giersz, Alicja Walewska, Marlena Tynecka, Marcin Moniuszko, Anna Tylki-Szymańska
Format: Article
Language:English
Published: MDPI AG 2023-04-01
Series:Biomolecules
Subjects:
Gaucher disease
Parkinson’s disease
glucosylsphingosine
α-synuclein
enzyme replacement therapy
Online Access:https://www.mdpi.com/2218-273X/13/4/644

Internet

https://www.mdpi.com/2218-273X/13/4/644

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