Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions

Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) are ultra-rare, autosomal-recessive, acid ceramidase (ACDase) deficiency disorders caused by ASAH1 gene mutations. Currently, 73 different mutations in the ASAH1 gene have been described in humans. These mu...

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Detalles Bibliográficos
Autores principales: Kleynerman, Annie, Rybova, Jitka, Faber, Mary L., McKillop, William M., Levade, Thierry, Medin, Jeffrey A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9953133/
https://www.ncbi.nlm.nih.gov/pubmed/36830643
http://dx.doi.org/10.3390/biom13020274

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9953133/
https://www.ncbi.nlm.nih.gov/pubmed/36830643
http://dx.doi.org/10.3390/biom13020274

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