A gene expression phenotype in lymphocytes from friedreich ataxia patients

被引：50

作者：

Coppola, Giovanni ^{[1
]}

Burnett, Ryan ^{[2
]}

Perlman, Susan ^{[1
]}

Versano, Revital ^{[1
]}

Gao, Fuying ^{[1
]}

Plasterer, Heather ^{[3
]}

Rai, Myriam ^{[4
]}

Sacca, Francesco ^{[5
]}

Filla, Alessandro ^{[5
]}

Lynch, David R. ^{[6
]}

Rusche, James R. ^{[3
]}

Gottesfeld, Joel M. ^{[2
]}

Pandolfo, Massimo ^{[4
]}

Geschwind, Daniel H. ^{[1
]}

机构：

[1] Univ Calif Los Angeles, David Geffen Sch Med, Program Neurogenet, Dept Neurol, Los Angeles, CA 90095 USA

[2] Scripps Res Inst, Dept Mol Biol, La Jolla, CA 92037 USA

[3] Repligen Corp, Waltham, MA USA

[4] Free Univ Brussels, Erasme Hosp, Expt Neurol Lab, B-1050 Brussels, Belgium

[5] Univ Naples Federico 2, Dept Neurol Sci, Naples, Italy

[6] Childrens Hosp Philadelphia, Dept Neurol, Philadelphia, PA 19104 USA

来源：

ANNALS OF NEUROLOGY | 2011年 / 70卷 / 05期

关键词：

RECOMBINANT-HUMAN-ERYTHROPOIETIN; FRATAXIN DEFICIENCY; MOUSE MODEL; DISEASE; MICE; REPEATS; PROTEIN; CELLS;

D O I：

10.1002/ana.22526

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective: Gene expression studies in peripheral tissues from patients with neurodegenerative disorders can provide insights into disease pathogenesis, and identify potential biomarkers, an important goal of translational research in neurodegeneration. Friedreich Ataxia (FRDA) is a chronic neurodegenerative disease caused by reduced transcription of frataxin, a ubiquitously expressed protein. We studied in vitro lymphocytes from FRDA patients and carriers to identify a peripheral gene expression phenotype. Peripheral biomarkers related to disease status would be extremely valuable for assessing drug efficacy and could provide new pathophysiological insights.

引用

页码：790 / 804

页数：15

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