Published January 1, 2015
| Version v1
Journal article
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Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions
Creators
- 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.
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