{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Mancini C"],"funding":["Telethon"],"pagination":["22"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3689607"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["6"],"pubmed_abstract":["<h4>Background</h4>SCA28 is an autosomal dominant ataxia associated with AFG3L2 gene mutations. We performed a whole genome expression profiling using lymphoblastoid cell lines (LCLs) from four SCA28 patients and six unrelated healthy controls matched for sex and age.<h4>Methods</h4>Gene expression was evaluated with the Affymetrix GeneChip Human Genome U133A 2.0 Arrays and data were validated by real-time PCR.<h4>Results</h4>We found 66 genes whose expression was statistically different in SCA28 LCLs, 35 of which were up-regulated and 31 down-regulated. The differentially expressed genes were clustered in five functional categories: (1) regulation of cell proliferation; (2) regulation of programmed cell death; (3) response to oxidative stress; (4) cell adhesion, and (5) chemical homeostas"],"journal":["BMC medical genomics"],"pubmed_title":["Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways."],"pmcid":["PMC3689607"],"funding_grant_id":["GGP07110","GGP12217"],"pubmed_authors":["Mancini C","Roncaglia P","Brice A","Brusco A","Stevanin G","Bartoletti Stella A","Cagnoli C","Le Ber I","Iommarini L","Gustincich S","Funaro A","Gasparre G","Maltecca F","Calvaruso MA","Brussino A","Gazzano E","Porcelli AM","Krmac H","Forlani S","Durr A","Ghigo D","Casari G","Lo Buono N"],"additional_accession":[]},"is_claimable":false,"name":"Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.","description":"<h4>Background</h4>SCA28 is an autosomal dominant ataxia associated with AFG3L2 gene mutations. We performed a whole genome expression profiling using lymphoblastoid cell lines (LCLs) from four SCA28 patients and six unrelated healthy controls matched for sex and age.<h4>Methods</h4>Gene expression was evaluated with the Affymetrix GeneChip Human Genome U133A 2.0 Arrays and data were validated by real-time PCR.<h4>Results</h4>We found 66 genes whose expression was statistically different in SCA28 LCLs, 35 of which were up-regulated and 31 down-regulated. The differentially expressed genes were clustered in five functional categories: (1) regulation of cell proliferation; (2) regulation of programmed cell death; (3) response to oxidative stress; (4) cell adhesion, and (5) chemical homeostas","dates":{"release":"2013-01-01T00:00:00Z","publication":"2013 Jun","modification":"2026-05-30T12:57:59.853Z","creation":"2026-04-08T07:18:56.417Z"},"accession":"S-EPMC3689607","cross_references":{"pubmed":["23777634"],"doi":["10.1186/1755-8794-6-22"]}}