Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis.

Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis.

PELD (Progressive Encephalopathy with or without Lipodystrophy or Celia's Encephalopathy) is a fatal and rare neurodegenerative syndrome associated with the BSCL2 mutation c.985C>T, that results in an aberrant transcript without the exon 7 (Celia seipin). The aim of this study was to evaluat...

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Bibliographic Details
Main Authors: Sofía Sánchez-Iglesias, Alexander Unruh-Pinheiro, Cristina Guillín-Amarelle, Blanca González-Méndez, Alejandro Ruiz-Riquelme, Blanca Leticia Rodríguez-Cañete, Silvia Rodríguez-García, Encarnación Guillén-Navarro, Rosario Domingo-Jiménez, David Araújo-Vilar
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4938205?pdf=render

Internet

http://europepmc.org/articles/PMC4938205?pdf=render

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