Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model

Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease associated with low levels of the essential survival motor neuron (SMN) protein. Reduced levels of SMN is due to the loss of the SMN1 gene and inefficient splicing of the SMN2 gene caused by a C>T mutation in exon 7. Global...

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Huvudupphovsmän: Bebee, Thomas W., Dominguez, Catherine E., Samadzadeh-Tarighat, Somayeh, Akehurst, Kristi L., Chandler, Dawn S.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2012
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Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3441125/
https://ncbi.nlm.nih.gov/pubmed/22763238
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds263
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