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

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 e...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:PLoS One
Asıl Yazarlar: Sánchez-Iglesias, Sofía, Unruh-Pinheiro, Alexander, Guillín-Amarelle, Cristina, González-Méndez, Blanca, Ruiz-Riquelme, Alejandro, Rodríguez-Cañete, Blanca Leticia, Rodríguez-García, Silvia, Guillén-Navarro, Encarnación, Domingo-Jiménez, Rosario, Araújo-Vilar, David
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2016
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4938205/
https://ncbi.nlm.nih.gov/pubmed/27391332
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0158874
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