CRELD1 is an evolutionarily-conserved maturational enhancer of ionotropic acetylcholine receptors.

ABSTRACT: The assembly of neurotransmitter receptors in the endoplasmic reticulum limits the number of receptors delivered to the plasma membrane, ultimately controlling neurotransmitter sensitivity and synaptic transfer function. In a forward genetic screen conducted in the nematode C. elegans, we identified crld-1 as a gene required for the synaptic expression of ionotropic acetylcholine receptors (AChR). We demonstrated that the CRLD-1A isoform is a membrane-associated ER-resident protein disulfide isomerase (PDI). It physically interacts with AChRs and promotes the assembly of AChR subunits in the ER. Mutations of Creld1, the human ortholog of crld-1a, are responsible for developmental cardiac defects. We showed that Creld1 knockdown in mouse muscle cells decre

SUBMITTER: D'Alessandro M 

PROVIDER: S-EPMC6245729 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature