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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Vydáno v:Brain
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2018
Témata:
Original Articles
On-line přístup: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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