{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Raman R"],"funding":["Spastic Paraplegia Foundation","Medical Research Council","National Institute for Health Research (NIHR)","Motor Neurone Disease Association","European Communitys Seventh Framework Programme"],"pagination":["201-26"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4329387"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["41(2)"],"pubmed_abstract":["Aims
Amyotrophic 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.Methods
Microarray analysis was performed on fibroblast RNA and differentially expressed genes identified. Genes in enriched biological pathways were validat"],"journal":["Neuropathology and applied neurobiology"],"pubmed_title":["Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions."],"pmcid":["PMC4329387"],"funding_grant_id":["Raman 2008-2010","SOPHIA - JPND grant","EuroMOTOR no259867","G0800380","Goodall/Oct10/6066","MR/K000039/1","G0800380 JRH","GOODALL/OCT10/6066","Dorothy Hodgkin Postgraduate Award","NF-SI-0512-10082"],"pubmed_authors":["Walsh T","Kirby J","Ponger LL","Shaw PJ","Highley JR","Kramer S","Heath PR","Allen SP","Raman R","Milo M","Goodall EF","Olpin S","Hollinger HC","McDermott CJ"],"additional_accession":[]},"is_claimable":false,"name":"Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions.","description":"Aims
Amyotrophic 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.Methods
Microarray analysis was performed on fibroblast RNA and differentially expressed genes identified. Genes in enriched biological pathways were validat","dates":{"release":"2015-01-01T00:00:00Z","publication":"2015 Feb","modification":"2026-04-30T06:15:06.491Z","creation":"2019-03-27T01:45:15Z"},"accession":"S-EPMC4329387","cross_references":{"pubmed":["24750211"],"doi":["10.1111/nan.12147"]}}