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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...
Autores principales: | Tamura, Norito, Sakai, Shota, Martorell, Loreto, Colomé, Roser, Mizuike, Aya, Goto, Asako, Ortigoza-Escobar, Juan Darío, Hanada, Kentaro |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Biochemistry and Molecular Biology
2021
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Materias: | |
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 |
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