Article
Increased transport of acetyl-CoA into the endoplasmic reticulum causes a progeria-like phenotype.
Aging cell - 1 Oct 2018
Peng Yajing, Shapiro Samantha L, Banduseela Varuna C, Dieterich Inca A, Hewitt Kyle J, Bresnick Emery H, Kong Guangyao, Zhang Jing, Schueler Kathryn L, Keller Mark P, Attie Alan D, Hacker Timothy A, Sullivan Ruth, Kielar-Grevstad Elle, Arriola Apelo Sebastian I, Lamming Dudley W, Anderson Rozalyn M, Puglielli Luigi
Abstract excerpt
The membrane transporter AT-1/SLC33A1 translocates cytosolic acetyl-CoA into the lumen of the endoplasmic reticulum (ER), participating in quality control mechanisms within the secretory pathway. Mutations and duplication events in AT-1/SLC33A1 are highly pleiotropic and have been linked to diseases such as spastic paraplegia, developmental delay, autism spectrum disorder, intellectual disability, propensity to...
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