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.

Rim2, pyrimidine nucleotide exchanger, is needed for iron utilization in mitochondria

Biochem. J. (2011) Immediate Publication, doi:10.1042/BJ20111036

Heeyong Yoon, Yan Zhang, Jayashree Pain, Elise R. Lyver, Emmanuel Lesuisse, Debkumar Pain and Andrew Dancis
University of Pennsylvania, Philadelphia, U.S.A

Keywords: Mitochondria, iron, heme, Fe-S clusters, Mrs3, Mrs4, Yfh1, frataxin homolog, Rim2, mitochondrial carrier protein, pyrimidine exchange, promoting mitochondrial iron utilization.

Cardiac Dysfunction Causes Majority of Deaths in Friedreich's Ataxia

Original paper: Mortality in friedreich ataxia.

By: SHARON WORCESTER, Internal Medicine News Digital Network

Cardiac dysfunction remains the most common cause of death in patients with Friedreich’s ataxia, according to the findings of a retrospective study. read more

The Role of CyaY in Iron Sulfur Cluster Assembly on the E. coli IscU Scaffold Protein

PLoS ONE 6(7): e21992. doi:10.1371/journal.pone.0021992

OPEN ACCESS

Clara Iannuzzi1#, Salvatore Adinolfi1#, Barry D. Howes2#, Ricardo Garcia-Serres3#, Martin Clémancey4, Jean-Marc Latour5, Giulietta Smulevich2, Annalisa Pastore1

1 Medical Research Council National Institute for Medical Research, London, United Kingdom, 2 Dipartimento di Chimica “Ugo Schiff”, Università di Firenze, Sesto Fiorentino, Firenze, Italy, 3 Commissariat pour l'Energie Atomique, iRTSV/LCBM, Grenoble, France, 4 CNRS, UMR 5249, Grenoble, France, 5 Université Joseph Fourier, Grenoble, France

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Rapamycin reduces oxidative stress in frataxin deficient yeast cells

Mitochondrion, Article in Press, Accepted Manuscript, doi:10.1016/j.mito.2011.07.001

Carlo M.T. Marobbioa, 1, Isabella Pisanoa, 1, Vito Porcellia, Francesco M. Lasorsab and Luigi Palmieria, b.

a Laboratory of Biochemistry and Molecular Biology, Department of Pharmaco-Biology, University of Bari, Via E. Orabona 4, 70125 Bari, Italy
b CNR Institute of Biomembranes and Bioenergetics, Via Orabona 4, 70125 Bari, Italy

Keywords: Friedreich ataxia (FRDA), frataxin, mitochondria, antioxidant protection, mitochondrial damage, antioxidant idebenone, yeast frataxin knock-out model, iron accumulation, iron-sulphur cluster defects, high sensitivity to oxidative stress, reactive oxygen species (ROS), rapamycin, TOR kinases inhibitor, autophagy, mitophagy.

Long Range Regulation of Human FXN Gene Expression

PLoS ONE 6(7): e22001. doi:10.1371/journal.pone.0022001

Puspasari N, Rowley SM, Gordon L, Lockhart PJ, Ioannou PA, Delatycki MB, Sarsero JP
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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Neurodegeneration with brain iron accumulation - Clinical Syndromes And Neuroimaging -

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
Article in Press, doi:10.1016/j.bbadis.2011.06.016

Hyman M. Schipper,
Centre for Neurotranslational Research, Lady Davis Institute, Jewish General Hospital, Departments of Neurology & Neurosurgery and Medicine McGill University, Montreal, Quebec, Canada

Keywords: Iron, neurotoxic reactive oxygen species, body iron homeostasis, neurodegeneration with brain iron accumulation (NBIA), clinical syndromes and neuroimaging, magnetic resonance scanning, Friedreich ataxia (FA), pantothenate kinase 2-associated neurodegeneration (PKAN), PLA2G6-associated neurodegeneration (PLAN), FA2H-associated neurodegeneration (FAHN), Kufor-Rakeb disease (KRD), aceruloplasminemia, neuroferritinopathy.

Disabilità e terapia occupazionale nei pazienti con atassia di Friedreich

G Ital Med Lav Erg 2011; 33:2, 201-204

Irene Ciancarelli1,2, Vincenza Cofini1, Antonio Carolei3
1 Dipartimento di Medicina Interna e Sanità Pubblica - Università degli Studi di L’Aquila
2 Casa di cura di Riabilitazione Nova Salus - Trasacco
3 Clinica Neurologica - Dipartimento di Medicina Interna e Sanità Pubblica - Università degli Studi di L’Aquila

Keywords: Friedreich ataxia, occupational therapy, neuromotor
rehabilitation.

Overexpression of Human and Fly Frataxins in Drosophila Provokes Deleterious Effects at Biochemical, Physiological and Developmental Levels

PLoS ONE 6(7): e21017. doi:10.1371/journal.pone.0021017

OPEN ACCESS

Juan A. Navarro1#, José V. Llorens2,3#*, Sirena Soriano2, José A. Botella1, Stephan Schneuwly1, María J. Martínez-Sebastián2, María D. Moltó2,4

1 Institute of Zoology, University of Regensburg, Regensburg, Germany, 2 Departament de Genètica, Universitat de València, Burjassot, Valencia, Spain, 3 Instituto de Biomedicina, CSIC, Valencia, Spain, 4 CIBERSAM (Centro de Investigación Biomédica en Red de Salud Mental), Madrid, Spain

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Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich’s ataxia

Nucl. Acids Res. (2011) doi: 10.1093/nar/gkr542 First published online: July 10, 2011

Eunah Kim1,2, Marek Napierala1,2,* and Sharon Y. R. Dent1,2,*
1The Department of Molecular Carcinogenesis, University of Texas MD Anderson Cancer Center Science Park, Smithville, Texas 78957 and 2The Genes and Development Program, Graduate School of Biomedical Sciences and the Center for Cancer Epigenetics, University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA

Keywords: Friedreich’s ataxia (FRDA), biallelic expansion of GAA repeats, frataxin (FXN) gene, chromatin modifications, chromatin immunoprecipitation, quantitative PCR, histone modifications, block of transition from initiation to a productive elongation.


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