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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 both non-neuron...

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Principais autores: Paweł Dubiela, Paulina Szymańska-Rożek, Andrzej Eljaszewicz, Patryk Lipiński, Piotr Hasiński, Dorota Giersz, Alicja Walewska, Marlena Tynecka, Marcin Moniuszko, Anna Tylki-Szymańska
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2023-04-01
Serier:Biomolecules
Fag:
Gaucher disease
Parkinson’s disease
glucosylsphingosine
α-synuclein
enzyme replacement therapy
Online adgang:https://www.mdpi.com/2218-273X/13/4/644
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