Tail Anchored protein insertion mediated by CAML and TRC40 links to neuromuscular function in mice.

ABSTRACT: Motor neuron diseases, such as amyotrophic lateral sclerosis (ALS) and progressive bulbar palsy, involve loss of muscle control resulting from death of motor neurons. Although the exact pathogenesis of these syndromes remains elusive, many are caused by genetically inherited mutations. Thus, it is valuable to identify additional genes that can impact motor neuron survival and function. In this report, we describe mice that express globally reduced levels of calcium-modulating cyclophilin ligand (CAML) protein. CAML is an essential component in the transmembrane domain recognition complex (TRC) pathway, responsible for inserting C-terminal tail anchored (TA) proteins into the endoplasmic reticulum membrane. The primary phenotype observed in these mice was rapid development of hind limb weak

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC11741622 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature