Article
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy.
Human molecular genetics - 15 Apr 2010
Riessland Markus, Ackermann Bastian, Förster Anja, Jakubik Miriam, Hauke Jan, Garbes Lutz, Fritzsche Ina, Mende Ylva, Blumcke Ingmar, Hahnen Eric, Wirth Brunhilde
Abstract excerpt
Proximal spinal muscular atrophy (SMA) is a common autosomal recessively inherited neuromuscular disorder determined by functional impairment of alpha-motor neurons within the spinal cord. SMA is caused by functional loss of the survival motor neuron gene 1 (SMN1), whereas disease severity is mainly influenced by the number of SMN2 copies. SMN2, which produces only low levels of full-length mRNA/protein, can be...
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