Article
Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.
Communications biology - 25 May 2023
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
Abstract excerpt
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, known to be pathogenic in humans (P361R-Farber). Here we describe a mouse model with an SMA-PME-like phenotype...
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