Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease.

ABSTRACT: Mutations in striated preferentially expressed protein kinase (SPEG), a member of the myosin light chain kinase protein family, are associated with centronuclear myopathy (CNM), cardiomyopathy, or a combination of both. Burgeoning evidence suggests that SPEG plays critical roles in the development, maintenance, and function of skeletal and cardiac muscles. Here we review the genotype-phenotype relationships and the molecular mechanisms of SPEG-related diseases. This review will focus on the progress made toward characterizing SPEG and its interacting partners, and its multifaceted functions in muscle regeneration, triad development and maintenance, and excitation-contraction coupling. We will also discuss future directions that are yet to be investigated including understanding of its tiss

SUBMITTER: Luo S 

PROVIDER: S-EPMC8199188 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature