ALTERED ZINC TRANSPORT DISRUPTS MITOCHONDRIAL PROTEIN PROCESSING/IMPORT IN FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME.

Hum Mol Genet. 2011 May 10. [Epub ahead of print]

Napoli E, Ross-Inta C, Wong S, Omanska-Klusek A, Barrow C, Iwahashi C, Garcia-Arocena D, Sakaguchi D, Berry-Kravis E, Hagerman R, Hagerman PJ, Giulivi C.
Source

Department of Molecular Biosciences, School of Veterinary Medicine.

Keywords: Fragile X-associated tremor/ataxia syndrome (FXTAS), common phenotypic traits shared by Friedreich's ataxia, gait ataxia, loss of coordination, iron homeostasis, mature frataxin protein expression, zinc, iron, desferrioxamine.

Early Changes in Left Ventricular Long-Axis Function in Friedreich Ataxia: Relation with the FXN Gene Mutation and Cardiac Structural Change

Journal of the American Society of Echocardiography, In Press, Corrected Proof, Available online 12 May 2011, doi:10.1016/j.echo.2011.04.004

Philip M. Mottram, Martin B. Delatycki, Lesley Donelan, John S. Gelman, Louise Corben and Roger E. Peverill

Keywords: Friedreich ataxia (FRDA), GAA triplet expansion, FXN gene, LV systolic dysfunction, Echocardiography, Left ventricular hypertrophy, Systole, Tissue Doppler imaging.