Article
Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.
Neurobiology of disease - 1 Nov 2015
Ruiz-Riquelme Alejandro, Sánchez-Iglesias Sofía, Rábano Alberto, Guillén-Navarro Encarna, Domingo-Jiménez Rosario, Ramos Adriana, Rosa Isaac, Senra Ana, Nilsson Peter, García Ángel, Araújo-Vilar David, Requena Jesús R
Abstract excerpt
Celia's Encephalopathy (MIM #615924) is a recently discovered fatal neurodegenerative syndrome associated with a new BSCL2 mutation (c.985C>T) that results in an aberrant isoform of seipin (Celia seipin). This mutation is lethal in both homozygosity and compounded heterozygosity with a lipodystrophic BSCL2 mutation, resulting in a progressive encephalopathy with fatal outcomes at ages 6-8. Strikingly,...
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