Ataxia with vitamin E deficiency: update of molecular diagnosis.

Neurol Sci. 2010 May 13.

Di Donato I, Bianchi S, Federico A.

Dipartimento di Scienze Neurologiche, Neurochirurgiche e del Comportamento, Università degli Studi di Siena, Viale Bracci, 53100, Siena, Italy.

Keyword: Ataxia with vitamin E deficiency (AVED),  autosomal recessive, neurodegenerative disease, TTPA gene, alpha-TTP, a cytosolic liver protein, alpha-tocopherol.

Repligen Files Investigational New Drug Application with FDA for First Drug Targeting the Core Genetic Defect of Friedreich's Ataxia

WALTHAM, Mass., May 13 /PRNewswire-FirstCall/ -- Repligen Corporation (Nasdaq: RGEN) announced today that it has filed an Investigational New Drug Application (IND) with the Food and Drug Administration (FDA) for a Phase 1 study of RG2833 .......

The role of echocardiographic deformation imaging in hypertrophic myopathies

Nat Rev Cardiol. 2010 May 11

Cikes M, Sutherland GR, Anderson LJ, Bijnens BH; Medscape.

University of Zagreb School of Medicine, Department of Cardiovascular Diseases, University Hospital Center Zagreb, Kispaticeva 12, 10000 Zagreb, Croatia.

Keywords:  Echocardiography, hypertrophic myopathies,  ischemic heart disease, amyloidosis, Fabry disease,  Friedreich ataxia.

Low predisposition to instability of the Friedreich ataxia gene in Cuban population

T C Mariño ^a Y G Zaldivar ^b J M L Mesa ^b L A Mederos ^b R A Rodríguez ^b D A Gotay ^b R R Labrada ^b N C Ochoa ^b P MacLeod ^c L V Pérez ^b

  ^a Center of Medical Genetics, Calle Coliseo Esquina a Mártires, Avenida Cajigal Número 525F2, entre Luz y Progreso, Reparto Luz, Holguín, Cuba ,
  ^b Center for Research and Rehabilitation of Hereditary Ataxias 'Carlos Juan Finlay' (CIRAH), Holguín, Cuba ,
  ^c Division of Medical Genetics, Department of Pathology, Laboratory Medicine and Medical Genetics, Victoria General Hospital, Canada

Tufts Wins $9.5M Stimulus Grant for New Collaborative Cluster in Medford, Mass.

NEW YORK (GenomeWeb News) —

Tufts said its current collaborations include studies in model systems of diseases, such as fragile X mental retardation, Huntington's disease, and Friedreich's ataxia.

Altered lipid metabolism in a Drosophila model of Friedreich's ataxia

Hum. Mol. Genet. (10 May 2010), ddq183.

Juan A. Navarro, Elisabeth Ohmann, Diego Sanchez, Jose A. Botella, Gerhard Liebisch, Maria D. Molto, Maria D. Ganfornina, Gerd Schmitz, Stephan Schneuwly

Keywords:  Friedreich's ataxia (FRDA), mitochondrial protein frataxin,  Drosophila, lipid accumulation, peroxidation, oxidative stress, fatty acids,  glial cells, lipid peroxidation.

The Lost Boys: Neglected Generation Of Young Men With Duchenne Muscular Dystrophy Demand More Support

Medicals News Today,  Article Date: 11 May 2010

New research from the University of Bristol has found that the rights and needs of young men with Duchenne muscular dystrophy (DMD) - a life-limiting, inherited neuromuscular disease - are being severely restricted by the failure of many services to provide good planning and support.

CELLULAR STRESS RESPONSES, THE HORMESIS PARADIGM AND VITAGENES: NOVEL TARGETS FOR THERAPEUTIC INTERVENTION IN NEURODEGENERATIVE DISORDERS

http://www.liebertonline.com/doi/abs/10.1089/ars.2009.3074?mi=3b5d62&af=R&BeforeMonth=null&journalCode=null&issue=null&nh=20&AfterMonth=null&prevSearch=allfield%253A%2528%2522Friedreich%2527s%2522%2Bor%2B%2522Friedreich%2522%2Bor%2B%2522FRDA%2522%2529&discipline=null&group=null&restrict=all&result=true&filter=multiple&year=null&startPage=0&journal=null&AfterYear=null&favoriteJIds=null&sortBy=date&BeforeYear=null&doi=null&target=simple

Online Ahead of Editing: May 6, 2010

Antioxidants & Redox Signaling. null, Vol. 0, No. ja

doi:10.1089/ars.2009.3074.  

Prof. Vittorio Calabrese,University of Catania, Department of Chemistry, Catania, Italy; Dr. Carolin Cornelius,University of Catania, Department of Chemistry, Catania, Italy; Prof. Albena T. Dinkova-Kostova,University of Dundee, The Biomedical Research Institute, Dundee, United Kingdom; Prof. Edward J. Calabrese

University of Massachusetts, Environmental Health Sciences Division, School of Public Health, Amherst, Massachusetts, United States; Dr. Mark Mattson, National Institute on Aging, Intramural Research Program, Baltimore, Maryland, United States;

Keywords:  chronic oxidative stress,  metabolic and neurodegenerative diseases,  hormesis,  neuroprotection, biological plasticity, therapeutic dose, pharmaceutical agents, sirtuin, Nrfs,  nitric oxide, carbon monoxide, H2S, mitochondrial redox signaling.

Mechanism elucidated for a rare disease

May 04 2010 
Scientists at the Friedrich Miescher Institute for Biomedical Research (FMI, part of the Novartis Research Foundation) have dissected one of the molecular mechanisms underlying Friedreich's ataxia. In doing so, they have shed new light on the pathogenic mechanism of the disease. These findings could lead to the development of new therapeutic approaches for what is, as yet, an incurable condition. The results of the study were recently published in the journal EMBO Molecular Medicine. 

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Caenorhabditis elegans as a model system to study intercompartmental proteostasis: Interrelation of mitochondrial function, longevity, and neurodegenerative diseases

Dev Dyn. 2010 May;239(5):1529-38. DOI 10.1002/dvdy.22292

Janine Kirstein-Miles, Richard I. Morimoto ^*
Department of Biochemistry, Molecular Biology and Cell Biology, Rice Institute for Biomedical Research, Northwestern University, Evanston, Illinois

Keywords:  proteostasis, eukaryotic cell,  mitochondria, cellular metabolism, organismal development,  lifespan,  neurodegenerative diseases, Friedreich's ataxia, Parkinson's disease.