[HTML][HTML] Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution
N Tamura, S Sakai, L Martorell, R Colomé… - Journal of Biological …, 2021 - ASBMB
The lipid molecule ceramide is transported from the endoplasmic reticulum to the Golgi
apparatus for sphingomyelin production via the ceramide transport protein (CERT), encoded
by CERT1. Hyperphosphorylation of CERT's serine-repeat motif (SRM) decreases its
functionality. Some forms of inherited intellectual disability (ID) have been associated with a
serine-to-leucine substitution in the SRM (S132L mutation) and a glycine-to-arginine
substitution outside the SRM (G243R mutation) in CERT; however, it is unclear if mutations …
apparatus for sphingomyelin production via the ceramide transport protein (CERT), encoded
by CERT1. Hyperphosphorylation of CERT's serine-repeat motif (SRM) decreases its
functionality. Some forms of inherited intellectual disability (ID) have been associated with a
serine-to-leucine substitution in the SRM (S132L mutation) and a glycine-to-arginine
substitution outside the SRM (G243R mutation) in CERT; however, it is unclear if mutations …