Thursday, October 30, 2014

Malfunctioning of the Iron–Sulfur Cluster Assembly Machinery in Saccharomyces cerevisiae Produces Oxidative Stress via an Iron-Dependent Mechanism, Causing Dysfunction in Respiratory Complexes

Malfunctioning of the Iron–Sulfur Cluster Assembly Machinery in Saccharomyces cerevisiae Produces Oxidative Stress via an Iron-Dependent Mechanism, Causing Dysfunction in Respiratory Complexes. Mauricio Gomez, Rocío V. Pérez-Gallardo, Luis A. Sánchez, Alma L. Díaz-Pérez, Christian Cortés-Rojo, Victor Meza Carmen, Alfredo Saavedra-Molina, Javier Lara-Romero, Sergio Jiménez-Sandoval, Francisco Rodríguez, José S. Rodríguez-Zavala, Jesús Campos-García. (2014)PLoS ONE 9(10): e111585. doi:10.1371/journal.pone.0111585

Wednesday, October 29, 2014

Charities’ role in supporting medical research

Charities’ role in supporting medical research. Times Higher Education, 16 October 2014

A group of medical charities spent more on health research last year than two government funding bodies, according to a report

Formation of [4Fe-4S] clusters in the mitochondrial iron-sulfur cluster assembly machinery

Formation of [4Fe-4S] clusters in the mitochondrial iron-sulfur cluster assembly machinery. Diego Brancaccio, Angelo Gallo, Maciej Mikolajczyk, Kairit Zovo, Peep Palumaa, Ettore Novellino, Mario Piccioli, Simone Ciofi-Baffoni, and Lucia Banci; Journal of the American Chemical Society Just Accepted Manuscript DOI: 10.1021/ja507822j

Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes

Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes. Vogel AP, Folker J, Poole ML; Cochrane Database of Systematic Reviews 2014, Issue 10. Art. No.: CD008953. DOI: 10.1002/14651858.CD008953.pub2

Review about the evidence about the effects of treatment on speech difficulties in people with Friedreich ataxia and other hereditary ataxias.

Sunday, October 26, 2014

Fitting and verification of frequency modulation systems on children with normal hearing.

Fitting and verification of frequency modulation systems on children with normal hearing. Schafer, Erin C.; Bryant, Danielle; Sanders, Katie; Baldus, Nicole; Algier, Katherine; Lewis, Audrey; Traber, Jordan; Layden, Paige; Amin, Aneeqa; Source: Journal of the American Academy of Audiology, Volume 25, Number 6, June 2014, pp. 529-540(12)

Several recent investigations support the use of frequency modulation (FM) systems in children with normal hearing and auditory processing or listening disorders such as those diagnosed with auditory processing disorders, autism spectrum disorders, attention-deficit hyperactivity disorder, Friedreich ataxia, and dyslexia.

The Role of the Cerebellum in Cognition Beyond Coordination in the Central Nervous System

The Role of the Cerebellum in Cognition Beyond Coordination in the Central Nervous System; Maryam Noroozian, Volume 32, Issue 4, November 2014, Pages 1081–1104 DOI: 10.1016/j.ncl.2014.07.005

This article reviews in further detail the current understanding of cognitive deficits associated with cerebellar impairments and unravels its modulating role in cognitive and behavioral processes.

Neuro-ophthalmic Manifestations of Cerebellar Disease

Neuro-ophthalmic Manifestations of Cerebellar Disease; Shin C. Beh , Teresa C. Frohman , Elliot M. Frohman; Neurologic Clinics, Volume 32, Issue 4 DOI: 10.1016/j.ncl.2014.07.002

The cerebellum is responsible for refining ocular movements, thereby guaranteeing the best possible visual acuity and clarity despite changes in body or head positions or movement of the object of interest.

The Cerebellum and Sleep

The Cerebellum and Sleep; Lourdes M. DelRosso, Romy Hoque; Neurologic Clinics; Volume 32, Issue 4, November 2014, Pages 893–900 DOI: 10.1016/j.ncl.2014.07.003

Sleep medicine is an important and under-recognized part of the neurologic evaluation in those with cerebellar disease.

Thursday, October 23, 2014

An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models

An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models. Catherine Gérard, Xiao Xiao, Mohammed Filali, Zoé Coulombe, Marie Arsenault, Jacques Couet, Juan Li, Marie-Claude Drolet, Pierre Chapdelaine, Amina Chikh & Jacques P Tremblay; Molecular Therapy — Methods & Clinical Development 1, Article number: 14044 ​doi:10.1038/mtm.2014.44

Article Open

Wednesday, October 22, 2014

Open-label pilot study of interferon gamma-1b in Friedreich ataxia

Open-label pilot study of interferon gamma-1b in Friedreich ataxia. L. Seyer, N. Greeley, D. Foerster, C. Strawser, S. Gelbard, Y. Dong, K. Schadt, M. G. Cotticelli, A. Brocht, J. Farmer, R. B. Wilson and D. R. Lynch; Acta Neurol Scand: DOI: 10.1111/ane.12337.

Conclusions – Interferon gamma-1b improved FARS scores without a clear relationship to changes in frataxin levels. Larger, longer placebo-controlled trials including biochemical assessments in affected tissues are necessary to evaluate fully the efficacy and utility of IFN-c in FRDA.

Thursday, October 16, 2014

FA & ACTIMMUNE Phase 2 Clinical Trial Results

FA & ACTIMMUNE Phase 2 Clinical Trial Results. Friedreich's Ataxia Analyst Day Presentation, Horizon Pharma plc, October 13, 2014

Clinical Potentials of Cardiomyocytes Derived from Patient-Specific Induced Pluripotent Stem Cells

Clinical Potentials of Cardiomyocytes Derived from Patient-Specific Induced Pluripotent Stem Cells. Kwong-Man Ng, Cheuk-Yiu Law and Hung-Fat Tse; J. Clin. Med. 2014, 3(4), 1105-1123; doi:10.3390/jcm3041105

OPEN ACCESS, FULL TEXT PDF

The cardiomyocytes derived from patients-specific iPSCs are of great potential in many clinical applications. This authentic human cardiomyocyte-based system is expected to compensate for the limitations of the current experimental animal models. This review provides detailed descriptions in the strategies and workflow of using the patient-specific iPSCs-derived cardiomyocytes in regenerative medicine, disease modeling and pharmacological applications. The examples illustrated in this review clearly evidenced the practical values of this novel technology. However, various limitations, such as the immaturities of iPSCs-derived cardiomyocytes, still need to be addressed, and future studies resolving these issues would be beneficial to the use of patient-specific iPSCs in clinical applications.

Monday, October 13, 2014

Horizon Pharma plc Reviews Future ACTIMMUNE® Opportunities at Analyst Day

Horizon Pharma plc Reviews Future ACTIMMUNE® Opportunities at Analyst Day. KING OF PRUSSIA, PA--(Marketwired - Oct 13, 2014)

SOURCE: Horizon Pharma plc

Sunday, October 12, 2014

Cardiac Manifestations of Friedreich Ataxia

Cardiac Manifestations of Friedreich Ataxia. Hari Krishnan NAIR, Cardiology Boston Children's Hospital, Published on October 12, 2014

Saturday, October 11, 2014

The Diabetes Drug Target MitoNEET Governs a Novel Trafficking Pathway to Rebuild an Fe-S Cluster into Cytosolic Aconitase/Iron Regulatory Protein 1

The Diabetes Drug Target MitoNEET Governs a Novel Trafficking Pathway to Rebuild an Fe-S Cluster into Cytosolic Aconitase/Iron Regulatory Protein 1 . Ioana Ferecatu, Sergio Gonçalves, Marie-Pierre Golinelli-Cohen, Martin Clémancey, Alain Martelli, Sylvie Riquier, Eric Guittet, Jean-Marc Latour, Hélène Puccio, Jean-Claude Drapier, Ewen Lescop and Cécile Bouton; J. Biol. Chem. jbc.M114.548438. 2014, doi:10.1074/jbc.M114.548438

Friday, October 10, 2014

Horizon Pharma plc Announces Presentation of ACTIMMUNE(R) Phase 2 Data in Friedreich's Ataxia

Horizon Pharma plc Announces Presentation of ACTIMMUNE(R) Phase 2 Data in Friedreich's Ataxia. DUBLIN, IRELAND -- (Marketwired) -- 10/09/14

Positive Clinical Efficacy Signal Seen in Study of Twelve Patients; Company Planning Phase 3 Program

An abstract of the data has been published in a supplement to the Annals of Neurology and is being presented as a poster during the 139th Annual Meeting of the American Neurological Association in Baltimore, MD on Monday, October 13.

Sunday, October 5, 2014

The roles of glutaredoxins ligating Fe–S clusters: Sensing, transfer or repair functions?

The roles of glutaredoxins ligating Fe–S clusters: Sensing, transfer or repair functions?; Jérémy Couturier, Jonathan Przybyla-Toscano, Thomas Roret, Claude Didierjean, Nicolas Rouhier, Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Available online 28 September 2014, ISSN 0167-4889, http://dx.doi.org/10.1016/j.bbamcr.2014.09.018.

Trinucleotide expansion in disease: why is there a length threshold?

Trinucleotide expansion in disease: why is there a length threshold?. Do-Yup Lee, Cynthia T. McMurray; Current Opinion in Genetics & Development 2014, 26:131–140 DOI: http://dx.doi.org/10.1016/j.gde.2014.07.003

Horizon Pharma plc Receives Orphan-Drug Designation for ACTIMMUNE(R) (Interferon gamma-1b) in Friedreich's Ataxia

Horizon Pharma plc Receives Orphan-Drug Designation for ACTIMMUNE(R) (Interferon gamma-1b) in Friedreich's Ataxia. Oct 03, 2014 (Marketwired via COMTEX).


Friday, October 3, 2014

RTA 408 Capsules in Patients With Friedreich's Ataxia (MOXIe)

RTA 408 Capsules in Patients With Friedreich's Ataxia (MOXIe). A Phase 2 Study of the Safety, Efficacy, and Pharmacodynamics of RTA 408 in the Treatment of Friedreich's Ataxia (MOXIe). ClinicalTrials.gov Identifier: NCT02255435

Wednesday, October 1, 2014

Reata Announces the Initiation of Phase 2 Studies Examining RTA 408 for the Treatment of Friedreich's Ataxia and Mitochondrial Myopathies

Reata Announces the Initiation of Phase 2 Studies Examining RTA 408 for the Treatment of Friedreich's Ataxia and Mitochondrial Myopathies. -(Marketwired - September 30, 2014), SOURCE: Reata Pharmaceuticals, Inc.

The two initial Phase 2 trials will both be multi-center, double-blind, randomized, dose-ranging, placebo-controlled studies.