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.

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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

EPI-743 Phase 2B Friedreich Ataxia clinical trial to be initiated

EPI-743 Phase 2B Friedreich Ataxia clinical trial to be initiated. Friedreich’s Ataxia Research Alliance (FARA) Press release. Downingtown, PA, November 15, 2012.

“We are tremendously excited about the encouraging results Edison Pharma’s team has obtained with EPI-743 in mitochondrial disease, and about the promising prospects for this upcoming multicenter Friedreich’s ataxia phase 2B study. We strongly encourage all Friedreich’s ataxia patients interested in participating to take the steps above to prepare for this important trial,” said FARA President Ron Bartek.

Adaptive Clinical Trials in Orphan Drug Development

Adaptive Clinical Trials in Orphan Drug Development. Authored by James Sheppard. Liftstream Life Science Newsletter

The benefit to companies and patients in the rare disease space is clear. Adaptive trials offer the possibility to help reduce not only the financial burden but the time constraints too.

Video game–based coordinative training improves ataxia in children with degenerative ataxia

Video game–based coordinative training improves ataxia in children with degenerative ataxia. Winfried Ilg, PhD, Cornelia Schatton, Julia Schicks, MD, Martin A. Giese, PhD, Ludger Schöls, MD and Matthis Synofzik, MD; Neurology November 13, 2012 vol. 79 no. 20 2056-2060, doi: 10.1212/WNL.0b013e3182749e67


This study provides Class III evidence that directed training with Xbox Kinect video games can improve several signs of ataxia in adolescents with progressive ataxia ....

Edison Pharmaceuticals Announces Initiation of EPI-743 Phase 2B Leigh Syndrome Clinical Trial

Edison Pharmaceuticals Announces Initiation of EPI-743 Phase 2B Leigh Syndrome Clinical Trial. Edison Press Release, November 13, 2012, Rev. FINAL

Role of DNA Polymerases in Repeat-Mediated Genome Instability.

Role of DNA Polymerases in Repeat-Mediated Genome Instability. Shah KA, Shishkin AA, Voineagu I, Pavlov YI, Shcherbakova PV, Mirkin SM.; Cell Rep. 2012 Nov 7. doi: 10.1016/j.celrep.2012.10.006

OPEN ACCESS

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Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich’s Ataxia?

Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich’s Ataxia?. Dr. IMMA CASTALDO, Dr. Paola Vergara, Dr. Michele Pinelli, Prof. Alessandro Filla, Prof. Giuseppe De Michele, Prof. Sergio Cocozza, and Dr. Antonella Monticelli; Antioxidants & Redox Signaling. null, Vol. 0, No. ja

Keywords: oxidative stress, inflammation, telomere erosion, Friedreich's ataxia, frataxin expression, inflammatory genes, neuronal death, telomere shortening, biomarker.

Induced pluripotent stem cell derived neurons and cardiomyocytes as a model for mitochondrial defects in Friedreich's ataxia.

Induced pluripotent stem cell derived neurons and cardiomyocytes as a model for mitochondrial defects in Friedreich's ataxia. Hick A, Wattenhofer-Donzé M, Chintawar S, Tropel P, Simard JP, Vaucamps N, Gall D, Lambot L, André C, Reutenauer L, Rai M, Teletin M, Messaddeq N, Schiffmann SN, Viville S, Pearson CE, Pandolfo M, Puccio HM. Dis Model Mech. 2012 Nov 7.

Keywords: Friedreich's ataxia (FRDA), neurodegenerative disorder, hypertrophic cardiomyopathy, frataxin level, cellular models, induced pluripotent stem cells (iPSCs).

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Synthesis of TAT peptide-tagged PEGylated chitosan nanoparticles for siRNA delivery targeting neurodegenerative diseases

Synthesis of TAT peptide-tagged PEGylated chitosan nanoparticles for siRNA delivery targeting neurodegenerative diseases. Meenakshi Malhotra, Catherine Tomaro-Duchesneau, Satya Prakash. Biomaterials, Available online 7 November 2012. DOI: http://dx.doi.org/10.1016/j.biomaterials.2012.10.013.

Keywords: Chitosan, PEG, TAT, siRNA, Nanoparticles, Gene delivery, Neurodegenerative diseases.

Gene therapy: Glybera approved by European Commission

European Commission approves uniQure’s gene therapy, Glybera

The European CommissionA has given Glybera marketing authorisation in Europe for the first time, this treatment corrects errors in a person's genetic code

It's an important step that opens the door to this type of treatment in many genetically based Diseases. The race to reach gene therapy to patients has begun!!!!

European Commission Public health

Cells Lacking Pfh1, a Fission Yeast Homolog of Mammalian Frataxin, Display Constitutive Activation of the Iron Starvation Response

Cells Lacking Pfh1, a Fission Yeast Homolog of Mammalian Frataxin, Display Constitutive Activation of the Iron Starvation Response. Natalia Gabrielli, José Ayté and Elena Hidalgo. JBC, Journal of Bological Chemistry, First Published on October 31, 2012, doi: 10.1074/jbc.M112.421735 jbc.M112.421735.

Keywords: Friedreich ataxia, frataxin, iron homeostasis, oxidative stress, Fep1, Php4, Grx4, S. pombe

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