Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive Plus
ORGANISM(S): Mus Musculus (mouse)
TISSUE(S): Skeletal Muscle, Forelimb Muscle
DISEASE(S): Limb-girdle Muscular Dystrophy
SUBMITTER: Chi Nam Ignatius Pang
LAB HEAD: Chi Nam Ignatius Pang
PROVIDER: PXD035393 | Pride | 2023-03-11
REPOSITORIES: Pride
Yasa Joe J Reed Claudia E CE Bournazos Adam M AM Evesson Frances J FJ Pang Ignatius I Graham Mark E ME Wark Jesse R JR Nijagal Brunda B Kwan Kim H KH Kwiatkowski Thomas T Jung Rachel R Weisleder Noah N Cooper Sandra T ST Lemckert Frances A FA
Acta neuropathologica communications 20230118 1
Dysferlin is a Ca<sup>2+</sup>-activated lipid binding protein implicated in muscle membrane repair. Recessive variants in DYSF result in dysferlinopathy, a progressive muscular dystrophy. We showed previously that calpain cleavage within a motif encoded by alternatively spliced exon 40a releases a 72 kDa C-terminal minidysferlin recruited to injured sarcolemma. Herein we use CRISPR/Cas9 gene editing to knock out murine Dysf exon 40a, to specifically assess its role in membrane repair and develo ...[more]