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

Abstract

OBJECTIVE 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 evaluate both the process of cellular senescence and the effect… (More)
DOI: 10.1371/journal.pone.0158874

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Cite this paper

@inproceedings{SnchezIglesias2016SkippedBT, title={Skipped BSCL2 Transcript in Celia’s Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis}, author={Sof{\'i}a S{\'a}nchez-Iglesias and Alexander Unruh-Pinheiro and Cristina Guill{\'i}n-Amarelle and Blanca Gonz{\'a}lez-M{\'e}ndez and Alejandro Ruiz-Riquelme and Blanca Leticia Rodr{\'i}guez-Ca{\~n}ete and Silvia Rodr{\'i}guez-Garc{\'i}a and Encarnaci{\'o}n Guill{\'e}n-Navarro and Rosario Domingo-Jim{\'e}nez and David Ara{\'u}jo-Vilar}, booktitle={PloS one}, year={2016} }