Dataset Information
Genome-wide gene expression analysis on tibialis anterior muscle from nebulin SH3 domain deleted (Neb∆SH3) mice
Ontology highlight
ABSTRACT:
ORGANISM(S): Mus musculus
SUBMITTER: Paolo Kunderfranco
PROVIDER: E-GEOD-47801 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Publications
The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse.
Journal of cell science 20130917 Pt 23
Nemaline myopathy (NM) is a congenital myopathy with an estimated incidence of 150,000 live births. It is caused by mutations in thin filament components, including nebulin, which accounts for about 50% of the cases. The identification of NM cases with nonsense mutations resulting in loss of the extreme C-terminal SH3 domain of nebulin suggests an important role of the nebulin SH3 domain, which is further supported by the recent demonstration of its role in IGF-1-induced sarcomeric actin filamen ...[more]
