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

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...

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Detalles Bibliográficos
Autores principales: Tamura, Norito, Sakai, Shota, Martorell, Loreto, Colomé, Roser, Mizuike, Aya, Goto, Asako, Ortigoza-Escobar, Juan Darío, Hanada, Kentaro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8605338/
https://www.ncbi.nlm.nih.gov/pubmed/34688657
http://dx.doi.org/10.1016/j.jbc.2021.101338

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8605338/
https://www.ncbi.nlm.nih.gov/pubmed/34688657
http://dx.doi.org/10.1016/j.jbc.2021.101338

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