Published January 1, 2015 | Version v1
Journal article Open

Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions

  • 1. Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Dept Neurosci, Sheffield S10 2HQ, S Yorkshire, England
  • 2. Univ Sheffield, Dept Biomed Sci, Sheffield S10 2HQ, S Yorkshire, England
  • 3. Sheffield Childrens NHS Fdn Trust, Sheffield, S Yorkshire, England

Description

AimsAmyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are two syndromic variants within the motor neurone disease spectrum. As PLS and most ALS cases are sporadic (SALS), this limits the availability of cellular models for investigating pathogenic mechanisms and therapeutic targets. The aim of this study was to use gene expression profiling to evaluate fibroblasts as cellular models for SALS and PLS, to establish whether dysregulated biological processes recapitulate those seen in the central nervous system and to elucidate pathways that distinguish the clinically defined variants of SALS and PLS.

Files

bib-1cc68ea1-1e7b-4bf6-8f59-094e1d617d84.txt

Files (377 Bytes)

Name Size Download all
md5:f8a64e13174e52cd2d5ee813aaf7c065
377 Bytes Preview Download