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Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes

Gaucher disease (GD) is a rare inherited metabolic disease caused by pathogenic variants in the GBA1 gene. So far, the pathomechanism of GD was investigated mainly in animal models. In order to delineate the molecular changes in GD cells we analysed gene expression profile in cultured skin fibroblas...

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Detalles Bibliográficos
Autores principales: Ługowska, Agnieszka, Hetmańczyk-Sawicka, Katarzyna, Iwanicka-Nowicka, Roksana, Fogtman, Anna, Cieśla, Jarosław, Purzycka-Olewiecka, Joanna Karolina, Sitarska, Dominika, Płoski, Rafał, Filocamo, Mirella, Lualdi, Susanna, Bednarska-Makaruk, Małgorzata, Koblowska, Marta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465595/
https://www.ncbi.nlm.nih.gov/pubmed/30988500
http://dx.doi.org/10.1038/s41598-019-42584-1