Zobrazeno 1 - 2
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pro vyhledávání: '"Annie Kleynerman"'
Autor:
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
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-20 (2023)
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
Externí odkaz:
https://doaj.org/article/04fa51e06c84484887be51ce53256008
Autor:
Annie Kleynerman, Jitka Rybova, Mary L. Faber, William M. McKillop, Thierry Levade, Jeffrey A. Medin
Publikováno v:
Biomolecules, Vol 13, Iss 2, p 274 (2023)
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
Externí odkaz:
https://doaj.org/article/036a553ab30a4c73ac17ddd27203134e