CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis

Autosomal recessive spinal muscular atrophy (SMA), the leading genetic cause of infant lethality, is caused by homozygous loss of the survival motor neuron 1 (SMN1) gene. SMA disease severity inversely correlates with the number of SMN2 copies, which in contrast to SMN1, mainly produce aberrantly sp...

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Detalhes bibliográficos
Publicado no:Brain
Main Authors: Janzen, Eva, Mendoza-Ferreira, Natalia, Hosseinibarkooie, Seyyedmohsen, Schneider, Svenja, Hupperich, Kristina, Tschanz, Theresa, Grysko, Vanessa, Riessland, Markus, Hammerschmidt, Matthias, Rigo, Frank, Bennett, C Frank, Kye, Min Jeong, Torres-Benito, Laura, Wirth, Brunhilde
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6061875/
https://ncbi.nlm.nih.gov/pubmed/29961886
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awy167
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