Cargando…

Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes

Deficit of the IDUA (α-L-iduronidase) enzyme causes the lysosomal storage disorder mucopolysaccharidosis type I (MPS I), a rare pediatric neurometabolic disease, due to pathological variants in the IDUA gene and is characterized by the accumulation of the undegraded mucopolysaccharides heparan sulfa...

Descripción completa

Detalles Bibliográficos
Autores principales: De Filippis, Concetta, Napoli, Barbara, Rigon, Laura, Guarato, Giulia, Bauer, Reinhard, Tomanin, Rosella, Orso, Genny
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8750945/
https://www.ncbi.nlm.nih.gov/pubmed/35011691
http://dx.doi.org/10.3390/cells11010129