Ontology highlight
ABSTRACT:
SUBMITTER: Farooq F
PROVIDER: S-EPMC3148738 | biostudies-literature | 2011 Aug
REPOSITORIES: biostudies-literature
Farooq Faraz F Molina Francisco Abadía FA Hadwen Jeremiah J MacKenzie Duncan D Witherspoon Luke L Osmond Matthew M Holcik Martin M MacKenzie Alex A
The Journal of clinical investigation 20110725 8
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that is characterized by the loss of motor neurons, resulting in progressive muscle atrophy. It is caused by the loss of functional survival motor neuron (SMN) protein due to mutations or deletion in the SMN1 gene. A potential treatment strategy for SMA is to upregulate levels of SMN protein. Several agents that activate STAT5 in human and mouse cell lines enhance SMN expression from the SMN2 gene and can compensat ...[more]