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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

Cecilia Mancini1, Paola Roncaglia23, Alessandro Brussino1, Giovanni Stevanin456, Nicola Lo Buono1, Helena Krmac3, Francesca Maltecca7, Elena Gazzano8, Anna Bartoletti Stella9, Maria Antonietta Calvaruso1011, Luisa Iommarini10, Claudia Cagnoli1, Sylvie Forlani4, Isabelle Le Ber4, Alexandra Durr45, Alexis Brice45, Dario Ghigo8, Giorgio Casari7, Anna Maria Porcelli10, Ada Funaro1, Giuseppe Gasparre9, Stefano Gustincich3 and Alfredo Brusco111*

Author Affiliations

1 Department of Medical Sciences, University of Torino, via Santena 19, 10126 Torino, Italy

2 European Bioinformatics Institute, Cambridge, UK

3 Neurobiology Sector, SISSA/ISAS, Trieste, Italy

4 Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière (INSERM / UPMC Univ. Paris 6, UMR_S975 ; CNRS 7225), Pitié-Salpêtrière Hospital, Paris, France

5 APHP, Fédération de génétique, Pitié-Salpêtrière Hospital, Paris, France

6 Neurogenetics team, Ecole Pratique des Hautes Etudes, Institut du Cerveau et de la Moelle épinière, CHU Pitié-Salpêtrière, Paris, France

7 San Raffaele Scientific Institute, Vita-Salute San Raffaele University and Center for Translational Genomics and Bioinformatics, Milan-I, Italy

8 Department of Oncology, University of Torino, Candiolo, Italy

9 Department Medical and Surgical Sciences, Medical Genetics, University of Bologna, Bologna, Italy

10 Department of Pharmacy and Biotechnologies (FABIT), University of Bologna, Bologna, Italy

11 Medical Genetics Unit, “Città della Salute e della Scienza” Hospital, Torino, Italy

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BMC Medical Genomics 2013, 6:22  doi:10.1186/1755-8794-6-22

Published: 18 June 2013

Additional files

Additional file 1:

Phenotypic features of SCA28 patients used to obtain lymphoblastoid cell lines (LCLs).

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Additional file 2:

Primers and UPL probes used for real-time RT-PCR validation of microarray data.

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Additional file 3:

Rank product list results and clusters for Gene Ontology categories.

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Additional file 4:

Western blot analysis of mitochondrial proteins. ATPase-α, Core2, NDUFA9, POLG1, SDHA, VDAC (A) and MFN1, MFN2, and OPA1(B) showed no differences in patients vs. controls.

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