Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease

Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease

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 lipod...

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Bibliographic Details
Main Authors: Alejandro Ruiz-Riquelme, Sofía Sánchez-Iglesias, Alberto Rábano, Encarna Guillén-Navarro, Rosario Domingo-Jiménez, Adriana Ramos, Isaac Rosa, Ana Senra, Peter Nilsson, Ángel García, David Araújo-Vilar, Jesús R. Requena
Format: Article
Language:English
Published: Elsevier 2015-11-01
Series:Neurobiology of Disease
Subjects:
Seipin
BSCL2
Neurodegeneration
Lipodystrophy
Intranuclear inclusions
Progressive encephalopathy
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996115300279

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http://www.sciencedirect.com/science/article/pii/S0969996115300279

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