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 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...

Descripción completa

Detalles Bibliográficos
Autores principales: Dubiela, Paweł, Szymańska-Rożek, Paulina, Eljaszewicz, Andrzej, Lipiński, Patryk, Hasiński, Piotr, Giersz, Dorota, Walewska, Alicja, Tynecka, Marlena, Moniuszko, Marcin, Tylki-Szymańska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10135719/
https://www.ncbi.nlm.nih.gov/pubmed/37189391
http://dx.doi.org/10.3390/biom13040644

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10135719/
https://www.ncbi.nlm.nih.gov/pubmed/37189391
http://dx.doi.org/10.3390/biom13040644

Ejemplares similares