Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.

Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.Saccà F, Marsili A, Puorro G, Antenora A, Pane C, Tessa A, Scoppettuolo P, Nesti C, Brescia Morra V, De Michele G, Santorelli FM, Filla A; Journal of neurology : 2012 Nov 30

Keywords: Friedreich ataxia (FRDA), FXN gene, frataxin, point mutation, novel deletion in exon 5a (c.572delC).

Calorie Restriction and SIRT3 Trigger Global Reprogramming of the Mitochondrial Protein Acetylome

Calorie Restriction and SIRT3 Trigger Global Reprogramming of the Mitochondrial Protein Acetylome Alexander S. Hebert, Kristin E. Dittenhafer-Reed, Wei Yu, Derek J. Bailey, Ebru Selin Selen, Melissa D. Boersma, Joshua J. Carson, Marco Tonelli, Allison J. Balloon, Alan J. Higbee, Michael S. Westphall, David J. Pagliarini, Tomas A. Prolla, Fariba Assadi-Porter, Sushmita Roy, John M. Denu, Joshua J. Coon;Molecular Cell, Available online 29 November 2012

The author explain that frataxin, and other proteins involved in iron homeostasis are well-represented as major targets of SIRT3 deacetylation, and even say the level and the exact place the interaction in the protein.

Synthesis and Biological Activities of N-(3-Carboxylpropyl)-5-amino-2-hydroxy-3-tridecyl-1,4-benzoquinone and Analogues.

Synthesis and Biological Activities of N-(3-Carboxylpropyl)-5-amino-2-hydroxy-3-tridecyl-1,4-benzoquinone and Analogues.Madathil MM, Khdour OM, Jaruvangsanti J, Hecht SM.; J Nat Prod. 2012 Nov 28. [Epub ahead of print]

KEYWORDS: benzoquinone, natural product, Friedreich's ataxia (FRDA) lymphocytes, oxidative stress, cytoprotection.

The mitochondrial protein frataxin is downregulated in hemodialysis patients.

The mitochondrial protein frataxin is downregulated in hemodialysis patients.Hasuike Y, Nagai T, Yorifuji S, Tanaka S, Matsumoto A, Yahiro M, Kaibe S, Kida A, Tokuyama M, Nagasawa Y, Otaki Y, Kuragano T, Nakanishi T.; Clin Exp Nephrol. 2012 Nov 23. [Epub ahead of print]

Keywords: frataxin, iron metabolism, heme, iron sulfur cluster synthesis, oxidative stress, uremia, polymorphonuclear leukocytes (PMNLs), hemodialysis (HD), frataxin/glyceraldehyde-3-phosphate dehydrogenase mRNA ratio, malondialdehyde, cytokine tumor necrosis factor-α, frataxin expression.

Novel Therapeutic Challenges in Cerebellar Diseases

Novel Therapeutic Challenges in Cerebellar Diseases. Dr. Antoni Matilla-Dueñas, Dr. Carme Serrano, Dr. Yerko Ivánovic, Dr. Ramiro Alvarez, Dr. Pilar Latorre, Dr. David Genís. Handbook of the Cerebellum and Cerebellar Disorders, 2013, pp 2370-2394.

FULL TEXT

Characterizing POLG Ataxia: Clinics, Electrophysiology and Imaging.

Characterizing POLG Ataxia: Clinics, Electrophysiology and Imaging. Synofzik M, Srulijes K, Godau J, Berg D, Schöls L; Cerebellum (London, England) [2012, 11(4):1002-1011]

Keywords: mitochondrial DNA polymerase gamma (POLG), POLG-associated ataxia (POLG-A), standardized clinical investigation, nerve conduction studies, motor-evoked potentials, magnetic resonance imaging (MRI), transcranial sonography (TCS), Friedreich's ataxia (FA), sensory axonal polyneuropathy type.

Identification of nonferritin mitochondrial iron deposits in a mouse model of Friedreich ataxia

Identification of nonferritin mitochondrial iron deposits in a mouse model of Friedreich ataxia. Megan Whitnall, Yohan Suryo Rahmanto, Michael L.-H. Huang, Federica Saletta, Hiu Chuen Lok, Lucía Gutiérrez, Francisco J. Lázaro, Adam J. Fleming, Tim G. St. Pierre, Marc R. Mikhael, Prem Ponka, and Des R. Richardson. PNAS 2012 ; published ahead of print November 20, 2012; doi: 10.1073/pnas.1215349109

Keywords: cardiomyopathy, Friedreich ataxia (FA), Frataxin, mitochondrial iron (Fe) metabolism, dietary Fe supplementation, ferritin molecules, Fe phosphorus, and sulfur.

Genomic deletions and point mutations induced in Saccharomyces cerevisiae by the trinucleotide repeats (GAA·TTC) associated with Friedreich's ataxia

Genomic deletions and point mutations induced in Saccharomyces cerevisiae by the trinucleotide repeats (GAA·TTC) associated with Friedreich's ataxia. Wei Tang, Margaret Dominska, Malgorzata Gawel, Patricia W. Greenwell, Thomas D. Petes. DNA Repair, Available online 20 November 2012. DOI: http://dx.doi.org/10.1016/j.dnarep.2012.10.001

Keywords: Friedreich's ataxia, GAA·TTC triplet repeats, Genome instability, Mutations, Saccharomyces cerevisiae

Assembly Factors of Human Mitochondrial Respiratory Chain Complexes: Physiology and Pathophysiology

Assembly Factors of Human Mitochondrial Respiratory Chain Complexes: Physiology and Pathophysiology. Daniele Ghezzi, Massimo Zeviani; Mitochondrial Oxidative Phosphorylation, Advances in Experimental Medicine and Biology Volume 748, 2012, pp 65-106. DOI:http://dx.doi.org/10.1007/978-1-4614-3573-0_4

Keywords: Mitochondrial disorders, oxidative phosphorylation (OXPHOS) system, mitochondrial respiratory chain (MRC), mitochondrial DNA, nuclear genes, Complex I, Complex II, Complex III, Complex IV, Complex V, Fe–S Cluster Biosynthesis, Respiratory Chain Supercomplexes.

Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia

Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia.

The purpose of this study is to examine the effects of EPI-743 on visual function and neurologic function in patients with Friedreich's ataxia.

Sponsor:

Edison Pharmaceuticals Inc 

ClinicalTrials.gov Identifier:  NCT01728064

First received: November 13, 2012

 

 

Condition	Intervention	Phase
Friedreich's Ataxia	Drug: Placebo Drug: EPI-743 400 mg Drug: EPI-743 200 mg	Phase 2