Translational Research Projects: University of Innsbruck

Rainer Schneider, Institute of Biochemistry, Department of Neurology, Medical University of Innsbruck, (13.05.2011)


Translational Research Program
TRP233 Mechanism of Frataxin increase dependent on Erythropoietin

Keywords Friedreich Ataxia, erythropoietin, Translation, MID1/alpha4, frataxin, mTOR



Translational-Research-Projekte:


Rainer SCHNEIDER, Institut für Biochemie
Mechanismus Erythropoietin-abhängiger Frataxin-Erhöhung


Außerdem werden zwei Translational-Research-Projekte mit insgesamt rund 700.000 Euro gefördert. Das Translational-Research-Programm dient zur Förderung weiterführender bzw. orientierter Grundlagenforschung an der Schnittstelle zur angewandten Forschung, die auf selbst gewonnenen wissenschaftlichen Erkenntnissen bzw. (bei Projekten an der Schnittstelle zwischen Kunst und Wissenschaft) auf eigener künstlerischer Tätigkeit aufbaut, auf konkrete Anwendungsziele oder/und einen zu entwickelnden wirtschaftlichen, gesellschaftlichen oder kulturellen Nutzen ausgerichtet ist.

ALTERED ZINC TRANSPORT DISRUPTS MITOCHONDRIAL PROTEIN PROCESSING/IMPORT IN FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME.

Hum Mol Genet. 2011 May 10. [Epub ahead of print]

Napoli E, Ross-Inta C, Wong S, Omanska-Klusek A, Barrow C, Iwahashi C, Garcia-Arocena D, Sakaguchi D, Berry-Kravis E, Hagerman R, Hagerman PJ, Giulivi C.
Source

Department of Molecular Biosciences, School of Veterinary Medicine.

Keywords: Fragile X-associated tremor/ataxia syndrome (FXTAS), common phenotypic traits shared by Friedreich's ataxia, gait ataxia, loss of coordination, iron homeostasis, mature frataxin protein expression, zinc, iron, desferrioxamine.

Early Changes in Left Ventricular Long-Axis Function in Friedreich Ataxia: Relation with the FXN Gene Mutation and Cardiac Structural Change

Journal of the American Society of Echocardiography, In Press, Corrected Proof, Available online 12 May 2011, doi:10.1016/j.echo.2011.04.004

Philip M. Mottram, Martin B. Delatycki, Lesley Donelan, John S. Gelman, Louise Corben and Roger E. Peverill

Keywords: Friedreich ataxia (FRDA), GAA triplet expansion, FXN gene, LV systolic dysfunction, Echocardiography, Left ventricular hypertrophy, Systole, Tissue Doppler imaging.

Idebenone Induces Apoptotic Cell Death in the Human Dopaminergic Neuroblastoma SHSY-5Y Cells.

Neurotox Res. 2011 May 3. [Epub ahead of print]

Tai KK, Pham L, Truong DD.

The Parkinson's and Movement Disorder Research Laboratory, Long Beach Memorial Medical Center, 2801 Atlantic Ave., Long Beach, CA, USA

Keywords: Idebenone, coenzyme Q10 analog, antioxidant, Friedreich Ataxia, neurodegenerative diseases, Parkinson's disease, dopaminergic neuroblastoma SHSY-5Y cells, Idebenone-induced cell death, genomic DNA fragmentation, accumulation of cytochrome c, apoptotic. protein BAX, caspase-3, high concentrations.

Estrogen Protection in Friedreich's Ataxia Skin Fibroblasts

Endocrinology, doi:10.1210/en.2011-0184, published online on May 3, 2011

Timothy E. Richardson, Shao-Hua Yang, Yi Wen and James W. Simpkins

Institute for Aging and Alzheimer's Disease Research, Department of Pharmacology and Neuroscience, University of North Texas Health Science Center, Fort Worth, Texas 76107

Keywords: Estrogens, neurodegenerative diseases, 17β-estradiol (E2), estrogen-like compounds, Friedreich's ataxia (FRDA), FRDA skin fibroblasts, estrogen receptor-α, estrogen receptor-β, G protein-coupled receptor 30, antioxidant properties, phenolic compounds, phenolic E2-like compounds.

The heart in Friedreich's Ataxia: Basic findings and clinical implications

Progress in Pediatric Cardiology - May 2011 (Vol. 31, Issue 2, Pages 103-109, DOI: 10.1016/j.ppedcard.2011.02.007)

R. Mark Payne

Riley Heart Research Center, Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN, 46202, United States

Keywords: Friedreich's Ataxia, mitochondrial disease, frataxin, GAA triplet expansion, progressive neuropathy, hypertrophic cardiomyopathy, arrhythmias, heart failure, cardiovascular stress intolerance, histone deacetylase inhibitors, enzyme replacement.

Neurons show distinctive DNA methylation profile and higher interindividual variations compared with non-neurons

Genome Res. Published in Advance April 5, 2011, doi: 10.1101/gr.112755.110

Kazuya Iwamoto 1,2,7,8, Miki Bundo 1,2,7, Junko Ueda 1, Michael C. Oldham 3, Wataru Ukai 4, Eri Hashimoto 4, Toshikazu Saito 4, Daniel H. Geschwind 5,6 and Tadafumi Kato 1,8

1 Laboratory for Molecular Dynamics of Mental Disorders, RIKEN Brain Science Institute, Japan; 2Department of Molecular Psychiatry, Graduate School of Medicine, The University of Tokyo 7-3-1 Hongo, Japan; 3 Department of Neurology, The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, USA; 4 Department of Neuropsychiatry, Sapporo Medical University, Japan;
5 Program in Neurogenetics, Department of Neurology, and the Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, USA; 6 Department of Human Genetics, University of California, USA

Keywords: Epigenome, mammalian brain cells, DNA methylation, hypomethylation, transcription-factor binding sites, central nervous system.

Sleep disorders in cerebellar ataxias

Arq. Neuro-Psiquiatr. vol.69 no.2a São Paulo Apr. 2011, doi: 10.1590/S0004-282X2011000200021

José L. Pedroso; Pedro Braga-Neto; André C. Felício; Camila C.H. Aquino; Lucila B. Fernandes do Prado; Gilmar Fernandes do Prado; Orlando G.P. Barsottini

Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo SP, Brazil

"Data on sleep disorders in patients with FA is poor."

Silencing of frataxin gene expression triggers p53-dependent apoptosis in human neuron-like cells

Hum. Mol. Genet. (2011) doi: 10.1093/hmg/ddr187

Gloria M. Palomo 1,2, Toñi Cerrato 1,2, Ricardo Gargini1 and Javier Díaz-Nido 1,2

1 Departamento de Biología Molecular and Centro de Biología Molecular “Severo Ochoa” (UAM-CSIC), C/ Nicolás Cabrera, 1. Campus de Cantoblanco. Universidad Autónoma de Madrid. 28049 Madrid, Spain
2 CIBER de Enfermedades Raras (CIBERER). 28049 Madrid, Spain

Keywords: Friedreich’s ataxia, frataxin, neuronal cells, lentiviral vectors, minigenes, frataxin-specific shRNAs, human neuroblastoma SH-SY5Y cells, p53, PUMA, Bax, caspase-3, autophagy, useful cell model, neurodegeneration.

European regulation on orphan medicinal products: 10 years of experience and future perspectives

Nature Reviews Drug Discovery 10, 341-349 (May 2011) | doi:10.1038/nrd3445

The Committee for Orphan Medicinal Products and the European Medicines Agency. Scientific Secretariat ¹

  

Keywords: orphan medicinal products,  European Union,  rare conditions,  orphan drug designations, Committee for Orphan Medicinal Products (COMP),  marketing authorization in Europe.