Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.

doi:10.1186/1755-8794-6-22

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Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.

BMC medical genomics - 18 Jun 2013

Mancini Cecilia, Roncaglia Paola, Brussino Alessandro, Stevanin Giovanni, Lo Buono Nicola, Krmac Helena, Maltecca Francesca, Gazzano Elena, Bartoletti Stella Anna, Calvaruso Maria Antonietta, Iommarini Luisa, Cagnoli Claudia, Forlani Sylvie, Le Ber Isabelle, Durr Alexandra, Brice Alexis, Ghigo Dario, Casari Giorgio, Porcelli Anna Maria, Funaro Ada, Gasparre Giuseppe, Gustincich Stefano, Brusco Alfredo

Abstract excerpt

BACKGROUND: 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. METHODS: Gene expression was evalua...

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PMID: 23777634
DOI: 10.1186/1755-8794-6-22
PMCID: PMC3689607

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23777634-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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