An evaluation of a SVA retrotransposon in the FUS promoter as a transcriptional regulator and its association to ALS.

An evaluation of a SVA retrotransposon in the FUS promoter as a transcriptional regulator and its association to ALS.

Genetic mutations of FUS have been linked to many diseases including Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration. A primate specific and polymorphic retrotransposon of the SINE-VNTR-Alu (SVA) family is present upstream of the FUS gene. Here we have demonstrated that thi...

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Autores principales: Abigail L Savage, Thomas P Wilm, Kejhal Khursheed, Aleksey Shatunov, Karen E Morrison, Pamela J Shaw, Christopher E Shaw, Bradley Smith, Gerome Breen, Ammar Al-Chalabi, Diana Moss, Vivien J Bubb, John P Quinn
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2014
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/042fd4e948994b3b8766b4695db23620
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