Ontology highlight
ABSTRACT:
SUBMITTER: Sula A
PROVIDER: S-EPMC3898210 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
Sula Altin A Cole Ambrose R AR Yeats Corin C Orengo Christine C Keep Nicholas H NH
BMC structural biology 20140117
<h4>Background</h4>Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies. Dysferlin is a type two-anchored membrane protein, with a single C terminal trans-membrane helix, and most of the protein lying in cytoplasm. Dysferlin contains several C2 domains and two DysF domains which are nested one inside the other. Many pathogenic point mutations fall in the DysF domain region.<h4>Results</h4>We desc ...[more]