Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution

Tamura, Norito; Sakai, Shota; Martorell, Loreto; Colomé, Roser; Mizuike, Aya; Goto, Asako; Darío Ortigoza‐Escobar, Juan; Hanada, Kentaro

doi:10.1016/j.jbc.2021.101338

Public

Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution

Published in Journal of Biological Chemistry • Oct 22, 2021

Authors:

Norito Tamura

Shota Sakai

Loreto Martorell

Abstract

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 int...

Subject

Endoplasmic reticulum

Golgi apparatus

Ceramide

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