Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines.
Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Paola Roncaglia
PROVIDER: E-GEOD-42406 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Publications
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.
Mancini Cecilia C Roncaglia Paola P Brussino Alessandro A Stevanin Giovanni G Lo Buono Nicola N Krmac Helena H Maltecca Francesca F Gazzano Elena E Bartoletti Stella Anna A Calvaruso Maria Antonietta MA Iommarini Luisa L Cagnoli Claudia C Forlani Sylvie S Le Ber Isabelle I Durr Alexandra A Brice Alexis A Ghigo Dario D Casari Giorgio G Porcelli Anna Maria AM Funaro Ada A Gasparre Giuseppe G Gustincich Stefano S Brusco Alfredo A
BMC medical genomics 20130618
<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 SCA2 ...[more]
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