Ontology highlight
ABSTRACT:
SUBMITTER: Bittel DC
PROVIDER: S-EPMC8718136 | biostudies-literature | 2022 Jan
REPOSITORIES: biostudies-literature
Bittel Daniel C DC Sreetama Sen Chandra SC Chandra Goutam G Ziegler Robin R Nagaraju Kanneboyina K Van der Meulen Jack H JH Jaiswal Jyoti K JK
The Journal of clinical investigation 20220101 1
Efficient sarcolemmal repair is required for muscle cell survival, with deficits in this process leading to muscle degeneration. Lack of the sarcolemmal protein dysferlin impairs sarcolemmal repair by reducing secretion of the enzyme acid sphingomyelinase (ASM), and causes limb girdle muscular dystrophy 2B (LGMD2B). The large size of the dysferlin gene poses a challenge for LGMD2B gene therapy efforts aimed at restoring dysferlin expression in skeletal muscle fibers. Here, we present an alternat ...[more]