The mitochondrial protein frataxin is essential for heme biosynthesis in plants

FEBS Journal, Accepted Article (Accepted, unedited articles published online for future issues)
DOI: 10.1111/j.1742-4658.2010.07968.x

María V. Maliandi1, Maria V. Busi2, Valeria R. Turowski2, Laura Leaden2, Alejandro Araya3, Diego F. Gomez-Casati2.

# 1 Instituto de Investigaciones Biotecnológicas-Instituto Tecnológico de Chascomús (IIB-INTECH) CONICET/UNSAM, Chascomús, Argentina.# 2 Centro de Estudios Fotosintéticos y Bioquímicos (CEFOBI-CONICET), Universidad Nacional de Rosario, Rosario, Argentina. # 3 Microbiologie Cellulaire et Moléculaire et Pathogénicité.Centre National de la Recherche Scientifique and Université Victor Segalen-Bordeaux 2, Bordeaux, France.

Keywords: Frataxin, mitochondrial protein, cellular iron homeostasis, Fe–S cluster, heme biosynthesis, photosynthetic organisms, aconitase, succinate dehydrogenase, AtFH. heme content.

Superior Cerebellar Peduncle Atrophy in Friedreich's Ataxia Correlates with Disease Symptoms.

Cerebellum. 2010 Nov 24.

Akhlaghi H, Corben L, Georgiou-Karistianis N, Bradshaw J, Storey E, Delatycki MB, Egan GF.
Florey Neurosciences Institute, Centre for Neurosciences, University of Melbourne, Parkville, VIC, Australia

KEYWORDS: Friedreich's ataxia (FRDA), cerebellar-sensory ataxia, peripheral sensory loss, loss of lower limb tendon reflexes, hypertrophic cardiomyopathy, superior cerebellar peduncle (SCP), Friedreich's ataxia rating scale score, surrogate marker of disease severity in FRDA.

Feasibility of Implantable Cardioverter Defibrillator Treatment in Five Patients With Familial Friedreich's Ataxia—A Case Series

Artificial Organs, Volume 34, Issue 11, pages 1061–1065, November 2010, DOI: 10.1111/j.1525-1594.2010.01140.x

Keywords: Friedreich's ataxia (FRA), familial cardiomyopathy, the most common cause of death, implantable cardioverter defibrillator (ICD), University Hospital of Goettingen, frataxin locus, electrocardiogram, ventricular dysfunction, ventricular tachyarrhythmias.

"Our experience implies the safe use of ICD in children with FRA"

The future of genetic research on neurodegeneration

Nature Medicine 16, 1215 - 1217 (2010), doi:10.1038/nm.2225


Christine Van Broeckhoven is at the Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium, and the Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium.

Les ataxies cérébelleuses autosomiques récessives

Original article in French, abstract in English Autosomal recessive cerebellar ataxias

Revue Neurologique, Article in Press, Corrected Proof
doi:10.1016/j.neurol.2010.07.021

M. Anheim, Service de neurogénétique, hôpital de la Pitié-Salpêtrière, Paris, France, Centre de référence des maladies neurogénétiques de l’enfant et de l’adulte, Paris, France, Unité Inserm UMR_S975 CRICM, hôpital de la Pitié-Salpêtrière, Paris, France

Keywords: Ataxia; Cerebellum; Autosomal recessive; Oculomotor apraxia; Peripheral neuropathy; Friedreich's ataxia

METHODS OF IDENTIFYING HISTONE DEACETYLASE INHIBITORS USEFUL FOR NEUROLOGICAL DISORDERS

United States Patent Application 20100285476

Inventors:Rusche, James R. (Senior Vice President of Research & Development, Repligen Corporation)
Cooper, Andrew (Senior Research Scientist at Repligen Corporation)

FULL TEXT PDF

Activation of mitochondrial energy metabolism protects against cardiac failure.

Aging (Albany NY). 2010 Nov 16.

Schulz TJ, Westermann D, Isken F, Voigt A, Laube B, Thierbach R, Kuhlow D, Zurse K, Schomburg L, Pfeiffer AF, Tschöpe C, Ristow M.
Department of Human Nutrition, Institute of Nutrition, University of Jena, Germany.

Keywords: Cardiac failure, impaired energy homeostasis in the heart, Mitochondrial metabolism, over-expressing the mitochondrial protein frataxin, iron-sulfur-cluster biogenesis, mitochondrial electron flux, stress defense mechanisms, cardiomyopathy, insulin/IGF-1 signaling cascade, protein kinase B, Akt, glycogen synthase kinase 3.

The Test of Everyday Attention Reveals Significant Sustained Volitional Attention and Working Memory Deficits in Friedreich Ataxia.

J Int Neuropsychol Soc. 2010 Nov 17:1-5. [Epub ahead of print]

Klopper F, Delatycki MB, Corben LA, Bradshaw JL, Rance G, Georgiou-Karistianis N.
Experimental Neuropsychology Research Unit, School of Psychology and Psychiatry, Monash University, Clayton, Victoria, Australia.

Keywords: Sustained volitional attention, working memory capacity, Friedreich ataxia (FRDA), Test of Everyday Attention, IQ-matched controls, GAA repeat number, FXN gene, disease severity, corticocerebellar pathways, cortical and/or cerebellar pathology.

Development and assessment of selective mitochondrion-targeted iron chelators for the study of the neurological disorder Friedrich’s Ataxia

Department of Pharmacy & Pharmacology, University of Bath

NEW PROJECT

"we will investigate the conjugation of a variety of clinical strong iron chelator molecules to cell-penetrating and mitochondria-targeting peptide sequences, to create highly specific cell-permeable metal chelators"

Development of Biomarkers for HDAC Inhibitor Treatment of Friedreich's Ataxia

AAN 2010 - American Academy of Neurology

Massimo Pandolfo, Brussels, Belgium, Heather Plasterer, Waltham, MA, Myriam Rai, Brussels, Belgium, Sushil Sharma, Carly Therkelsen, Andrew Cooper, Waltham, MA, Jennifer Farmer, David Lynch, Philadelphia, PA, James Rusche, Waltham, MA