Inherited Neuromuscular Diseases (book )

Translation from Pathomechanisms to Therapies
Series: Advances in Experimental Medicine and Biology , Vol. 652

Espinós, Carmen; Felipo, Vicente; Palau, Francesc (Eds.)

2009, XIII, 304 p., Hardcover

ISBN: 978-90-481-2812-9

Keywords: muscular dystrophies, mitochondrial disorders, peripheral neuropathies, spinal muscular atrophy, motoneurone disease, Friedreich ataxia, genetics, neuromuscular disorders, peripheral nervous system, cellular biology, pathomechanisms, therapies and treatments.

Idebenone Appears Safe in Patients With Friedreich's Ataxia: Presented at ANA

Doctor's Guide Publishing Limited.

Presentation title: SNT-MC17/Idebenone to Treat Friedreich's Ataxia: Preliminary Phase 3 Safety Data. Poster T-80]

Keywords: blinded interim safety analysis, Friedreich's ataxia, clinical trial, idebenone, severe events, supraventricular extrasystole, reduced visual acuity, fatigue, anxiety, flatulence/abdominal discomfort, electrocardiograms, vital signs, laboratory test, SNT-MC17, headache, nausea, diarrhoea, vomiting, abdominal pain, upper abdominal pain, fatigue, hypercholesterolaemia, rash, flatulence, pruritus.

The N-terminus of mature human frataxin is intrinsically unfolded

FEBS Journal, Early View (Articles online in advance of print)
Published Online: 16 Oct 2009
Journal compilation © 2009 Federation of European Biochemical Societies

Filippo Prischi 1 , Clelia Giannini 2 , Salvatore Adinolfi 3 and Annalisa Pastore 3
1 Dipartimento di Biologia Molecolare, University of Siena, Siena, Italy
2 Dipartimento di Chimica Organica ed Industriale, University of Milano, Italy
3 National Institute for Medical Research, MRC, The Ridgeway, London, UK

KEYWORDS: dynamics, Friedreich's ataxia, IUPs, NMR, structure, Frataxin, mitochondrial protein, neurodegenerative disease, globular domain, N-terminal, unfolded, iron-binding.

Scientists Map First Complete Human Epigenome, The Driver Of Gene Expression

Scientists Map First Complete Human Epigenome, The Driver Of Gene Expression
Genetics News From Medical News Today
When scientists mapped the DNA sequence of 3 billion bases in the human genome they uncovered the master blueprint of what makes a human being; now a team in the US has produced a high resolution map of the first complete human epigenome, the driver of gene expression that regulates how all the options offered in the genome are put together to make the unique person that grows in a particular environment.

Cell's Powerhouses Dismantled: Complete Inventory Of All Proteins In Mitochondria

ScienceDaily (Oct. 15, 2009) — All of life is founded on the interactions of millions of proteins. These are the building blocks for cells and form the molecular mechanisms of life. The problem is that proteins are extremely difficult to study, particularly because there are so many of them and they appear in all sizes and weights. Now, Kris Gevaert from VIB/Ghent University and colleagues from the universities of Freiburg and Bochum have achieved a breakthrough in protein research. Using yeast, they have succeeded in making virtually the complete inventory of all the proteins in the mitochondria, the energy producers found in every cell.



Full text in ScienceDaily : http://www.sciencedaily.com/releases/2009/10/091015123602.htm

alpha-tocopherol beta-Oxidation Localized to Rat Liver Mitochondria

Free Radic Biol Med. 2009 Oct 8

Mustacich DJ, Leonard SW, Patel NK, Traber MG.
Linus Pauling Institute, Oregon State University, Corvallis, OR.

Keywords: dietary supplements, vitamin E (alpha-tocopherol), hepatic metabolism, microsomes, peroxisomes, trolox, alpha-CEHC, "mitochondrial role in alpha-tocopherol metabolism".

Cerebellar Contributions to Adaptive Control of Saccades in Humans

The Journal of Neuroscience, October 14, 2009, 29(41):12930-12939; doi:10.1523/JNEUROSCI.3115-09.2009

Minnan Xu-Wilson,1 Haiyin Chen-Harris,1 David S. Zee,2 and Reza Shadmehr1

1Departments of Biomedical Engineering and 2Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland 21205

Keywords: cerebellum, internal feedback correct, saccades, cerebellar damage, dysmetria.

Nutrition, Brain Aging, and Neurodegeneration

The Journal of Neuroscience, October 14, 2009, 29(41):12795-12801; doi:10.1523/JNEUROSCI.3520-09.2009

James Joseph,1 Greg Cole,2 Elizabeth Head,3 and Donald Ingram4

1USDA Human Nutrition Research Center on Aging at Tufts University, Boston, Massachusetts 02111, 2Geriatric Research, Education and Clinical Centers, Veterans Affairs Medical Center, and Department of Medicine, University of California, Los Angeles, Sepulveda, California 91343, 3University of Kentucky Sanders-Brown Center on Aging, Lexington, Kentucky 40536, and 4Pennington Biomedical Center, Baton Rouge, Louisiana 70808



Unfortunately we all know what is the FA, and these tips are not enough, but they are interesting.

Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension)

Official Title: A Phase III Open-Label, Single-Group, Extension Study to Obtain Long-Term Safety and Tolerability Data of Idebenone in the Treatment of Friedreich's Ataxia Patients.

This study is currently recruiting participants.
Verified by Santhera Pharmaceuticals, October 2009
First Received: October 13, 2009

Sponsored by: Santhera Pharmaceuticals

ClinicalTrials.gov Identifier: NCT00993967

Stress ossidativo ed anomalie citoscheletriche nell’Atassia di Friedreich

Piemonte, Fiorella
Gaeta, Laura Maria
UNIVERSITÀ DEGLI STUDI DI ROMA "TOR VERGATA", FACOLTA' DI MEDICINA, DOTTORATO DI RICERCA IN BIOTECNOLOGIE MEDICHE E MEDICINA MOLECOLARE

Issue Date: 6-Aug-2009

Keywords: Atassia di Friedreich, glutatione, proteine glutationilate, citoscheletro, stress ossidativo, regolazione redox.

Link to full text: http://dspace.uniroma2.it/dspace/bitstream/2108/994/1/TESI+DI+DOTTORATO.pdf