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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Dettagli Bibliografici
Pubblicato in:Brain
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2018
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Original Articles
Accesso online: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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