Ontology highlight
ABSTRACT:
SUBMITTER: Setola V
PROVIDER: S-EPMC1794299 | biostudies-literature | 2007 Feb
REPOSITORIES: biostudies-literature
Setola Veronica V Terao Mineko M Locatelli Denise D Bassanini Stefania S Garattini Enrico E Battaglia Giorgio G
Proceedings of the National Academy of Sciences of the United States of America 20070129 6
Spinal muscular atrophy (SMA) is an autosomal recessive disease of childhood due to loss of the telomeric survival motor neuron gene, SMN1. The general functions of the main SMN1 protein product, full-length SMN (FL-SMN), do not explain the selective motoneuronal loss of SMA. We identified axonal-SMN (a-SMN), an alternatively spliced SMN form, preferentially encoded by the SMN1 gene in humans. The a-SMN transcript and protein are down-regulated during early development in different tissues. In t ...[more]