Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency

Mutations in ASAH1 have been linked to two allegedly distinct disorders: Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). We have previously reported FD-like phenotypes in mice harboring a single amino acid substitution in acid ceramidase (ACDase), P361R...

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Detalles Bibliográficos
Autores principales: Nagree, Murtaza S., Rybova, Jitka, Kleynerman, Annie, Ahrenhoerster, Carissa J., Saville, Jennifer T., Xu, TianMeng, Bachochin, Maxwell, McKillop, William M., Lawlor, Michael W., Pshezhetsky, Alexey V., Isaeva, Olena, Budde, Matthew D., Fuller, Maria, Medin, Jeffrey A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10212955/
https://www.ncbi.nlm.nih.gov/pubmed/37231125
http://dx.doi.org/10.1038/s42003-023-04932-w

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