Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA

Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder characterized by loss of lower motor neurons. SMA is caused by deletion or mutation of the Survival Motor Neuron 1 (SMN1) gene and retention of the SMN2 gene. The loss of SMN1 results in reduced levels of the SMN protein. SMN levels ap...

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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: Iyer, Chitra C., McGovern, Vicki L., Murray, Jason D., Gombash, Sara E., Zaworski, Phillip G., Foust, Kevin D., Janssen, Paul M.L., Burghes, Arthur H.M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2015
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4599674/
https://ncbi.nlm.nih.gov/pubmed/26276812
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv332
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