A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia.

J Mol Cell Cardiol. 2011 Jul 12.

Kelly M, Bagnall RD, Peverill RE, Donelan L, Corben L, Delatycki MB, Semsarian C.
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia.

Keywords:Friedreich ataxia (FRDA), expanded GAA trinucleotide repeat,frataxin gene (FXN), mitochondrial iron efflux, sensitivity to oxidative stress, variability in cardiac phenotype, genetic modifying factors, single nucleotide polymorphisms (SNPs), Renin-Angiotensin-Aldosterone system (RAAS), angiotensin-II type-1 receptor (AGTR1), angiotensin-converting enzyme (ACE), ACE2, left ventricular internal diameter in diastole (LVIDd), interventricular septal wall thickness (SWT), left ventricular mass (LVM), diastolic blood pressure, role of RAAS polymorphisms as modifiers of cardiac phenotype.

Structure-function analysis of Friedreich’s ataxia mutants reveals determinants for frataxin binding and activation of the Fe-S assembly complex

Biochemistry, Just Accepted Manuscript, DOI: 10.1021/bi200895k

Jennifer Bridwell-Rabb , Andrew M Winn , and David P. Barondeau

Keywords: Friedreich’s ataxia (FRDA), frataxin (FXN), GAA triplet repeat expansion, missense mutations, cysteine desulfurase, Fe-S cluster assembly activities, kcat/KM, NFS1, ISD11, ISCU2 (SDU), binding and allosteric activation of the Fe-S assembly complex.