Ontology highlight
ABSTRACT:
ORGANISM(S): Mus musculus
DISEASE(S): spinal muscular atrophy (NCI Metathesaurus C0026847) has DiseaseStaging postsymptomatic
SUBMITTER: Judith Melki
PROVIDER: E-MEXP-131 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Physiological genomics 20050823 2
Mutations of the survival of motor neuron gene (SMN1) are responsible for spinal muscular atrophies (SMA), a frequent recessive autosomal motor neuron disease. SMN is involved in various processes including RNA metabolism. However, the molecular pathway linking marked deficiency of SMN to SMA phenotype remains unclear. Homozygous deletion of murine Smn exon 7 directed to neurons or skeletal muscle causes severe motor axonal or myofiber degeneration, respectively. With the use of cDNA microarrays ...[more]