An Overview of Molecular Mechanisms in Fabry Disease

Fabry disease (FD) (OMIM #301500) is a rare genetic lysosomal storage disorder (LSD). LSDs are characterized by inappropriate lipid accumulation in lysosomes due to specific enzyme deficiencies. In FD, the defective enzyme is α-galactosidase A (α-Gal A), which is due to a mutation in the GLA gene on...

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Detalles Bibliográficos
Autores principales: Amodio, Federica, Caiazza, Martina, Monda, Emanuele, Rubino, Marta, Capodicasa, Laura, Chiosi, Flavia, Simonelli, Vincenzo, Dongiglio, Francesca, Fimiani, Fabio, Pepe, Nicola, Chimenti, Cristina, Calabrò, Paolo, Limongelli, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9599883/
https://www.ncbi.nlm.nih.gov/pubmed/36291669
http://dx.doi.org/10.3390/biom12101460

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9599883/
https://www.ncbi.nlm.nih.gov/pubmed/36291669
http://dx.doi.org/10.3390/biom12101460

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