Article
Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 17 Jun 2009
Williams Jason H, Schray Rebecca C, Patterson Carlyn A, Ayitey Semira O, Tallent Melanie K, Lutz Gordon J
Abstract excerpt
Spinal muscular atrophy (SMA) is caused by homozygous mutation or deletion of the SMN1 gene encoding survival of motor neuron (SMN) protein, resulting in the selective loss of alpha-motor neurons. Humans typically have one or more copies of the SMN2 gene, the coding region of which is nearly identical to SMN1, except that a point mutation causes splicing out of exon 7 and production of a largely nonfunctional...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
