Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations

Fabry disease (FD) is a rare X-linked disease due to a multiverse of disrupting mutations within the GLA gene encoding lysosomal α-galactosidase A (AGAL). Absent AGAL activity causes the accumulation of complex glycosphingolipids inside of lysosomes in a variety of cell types and results in a progre...

Descripción completa

Detalles Bibliográficos
Autores principales: Alfen, Franziska, Putscher, Elena, Hecker, Michael, Zettl, Uwe Klaus, Hermann, Andreas, Lukas, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9737616/
https://www.ncbi.nlm.nih.gov/pubmed/36499585
http://dx.doi.org/10.3390/ijms232315261

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9737616/
https://www.ncbi.nlm.nih.gov/pubmed/36499585
http://dx.doi.org/10.3390/ijms232315261

Ejemplares similares