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

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

Abstract 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 (ACDas...

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Bibliographic Details
Main Authors: Murtaza S. Nagree, Jitka Rybova, Annie Kleynerman, Carissa J. Ahrenhoerster, Jennifer T. Saville, TianMeng Xu, Maxwell Bachochin, William M. McKillop, Michael W. Lawlor, Alexey V. Pshezhetsky, Olena Isaeva, Matthew D. Budde, Maria Fuller, Jeffrey A. Medin
Format: Article
Language:English
Published: Nature Portfolio 2023-05-01
Series:Communications Biology
Online Access:https://doi.org/10.1038/s42003-023-04932-w

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https://doi.org/10.1038/s42003-023-04932-w

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