Ontology highlight
ABSTRACT:
SUBMITTER: Rossoll W
PROVIDER: S-EPMC2173668 | biostudies-literature | 2003 Nov
REPOSITORIES: biostudies-literature
Rossoll Wilfried W Jablonka Sibylle S Andreassi Catia C Kröning Ann-Kathrin AK Karle Kathrin K Monani Umrao R UR Sendtner Michael M
The Journal of cell biology 20031117 4
Spinal muscular atrophy (SMA), a common autosomal recessive form of motoneuron disease in infants and young adults, is caused by mutations in the survival motoneuron 1 (SMN1) gene. The corresponding gene product is part of a multiprotein complex involved in the assembly of spliceosomal small nuclear ribonucleoprotein complexes. It is still not understood why reduced levels of the ubiquitously expressed SMN protein specifically cause motoneuron degeneration. Here, we show that motoneurons isolate ...[more]