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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061875/
https://www.ncbi.nlm.nih.gov/pubmed/29961886
http://dx.doi.org/10.1093/brain/awy167

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