Human Molecular Genetics doi:10.1093/hmg/ddq566
Alessandra Rufini, Silvia Fortuni, Gaetano Arcuri, Ivano Condo’, Dario Serio, Ottaviano Incani, Florence Malisan, Natascia Ventura, Roberto Testi
kEYWORDS: Friedreich’s Ataxia (FRDA),frataxin, mitochondrial defects, oxidative damage, frataxin stability and degradation, ubiquitin-proteasome system, K147, K147R substitution, aconitase activity, ATP levels, therapeutic potential, frataxin degradation pathway.
Saturday, January 8, 2011
A registry of registries? The US backs the idea for patients
Nature Medicine Volume:17, Page:4 Year published: (2011)
DOI:10.1038/nm0111-4a, Published online 07 January 2011
Monica Heger
"The database would serve patients and physicians looking for specific disease registries, researchers investigating a particular disease and drug developers".
Keywords: ClinicalTrials.gov, registry, federally and privately funded clinical trials, world, registry of patient registries.
DOI:10.1038/nm0111-4a, Published online 07 January 2011
Monica Heger
"The database would serve patients and physicians looking for specific disease registries, researchers investigating a particular disease and drug developers".
Keywords: ClinicalTrials.gov, registry, federally and privately funded clinical trials, world, registry of patient registries.
Friday, January 7, 2011
Patent application title: Inhibitors of Acetyl-CoA Carboxylase for Treatment of Neuronal Hypometabolism
Publication date: 01/06/2011, Patent application number: 20110003767
Treatment, prevention, inhibition or alleviation of diseases associated with neuronal hypometabolism and/or loss of cognitive function caused by reduced neuronal metabolism such as, for example, Age Associated Memory Impairment (AAMI), Mild Cognitive Impairment (MCI), Alzheimer's disease, Parkinson's disease, Friedreich's Ataxia (FRDA).....
Treatment, prevention, inhibition or alleviation of diseases associated with neuronal hypometabolism and/or loss of cognitive function caused by reduced neuronal metabolism such as, for example, Age Associated Memory Impairment (AAMI), Mild Cognitive Impairment (MCI), Alzheimer's disease, Parkinson's disease, Friedreich's Ataxia (FRDA).....
Wednesday, January 5, 2011
Key Players and Their Role During Mitochondrial Iron–Sulfur Cluster Biosynthesis
Chemistry - A European Journal, n/a. doi: 10.1002/chem.201002143
Article first published online: 5 JAN 2011
Swati Rawat, Dr. Timothy L. Stemmler
Keywords: biosynthesis, Fe–S clusters, frataxin, Isu scaffold, metalloproteins
FULL TEXT
Article first published online: 5 JAN 2011
Swati Rawat, Dr. Timothy L. Stemmler
Keywords: biosynthesis, Fe–S clusters, frataxin, Isu scaffold, metalloproteins
FULL TEXT
Friday, December 31, 2010
(WO/2010/083327) MEASURING LEVELS OF FRATAXIN
PATENT, WO/2010/083327, PCT/US2010/021067
MAYO FOUNDATION FOR MEDICAL EDUCATION AND RESEARCH (US), OGLESBEE, Devin; (US),
MATERN, Dietrich; (US), ISAYA, Grazia; (US).
A method for assessing levels of a frataxin polypeptide in a mammal.
This document relates to methods and materials involved in measuring levels of a frataxin polypeptide present in a biological sample. For example, methods and materials related to the use of anti-frataxin antibody-bound microspheres and biotinylated anti-frataxin antibodies to measure the levels of a frataxin polypeptide in a biological sample from a mammal (e.g., a newborn human) are provided.
MAYO FOUNDATION FOR MEDICAL EDUCATION AND RESEARCH (US), OGLESBEE, Devin; (US),
MATERN, Dietrich; (US), ISAYA, Grazia; (US).
A method for assessing levels of a frataxin polypeptide in a mammal.
This document relates to methods and materials involved in measuring levels of a frataxin polypeptide present in a biological sample. For example, methods and materials related to the use of anti-frataxin antibody-bound microspheres and biotinylated anti-frataxin antibodies to measure the levels of a frataxin polypeptide in a biological sample from a mammal (e.g., a newborn human) are provided.
Thursday, December 30, 2010
Co-precipitation of phosphate and iron limits mitochondrial phosphate availability in Saccharomyces cerevisiae lacking the yeast frataxin homologue (YFH1)
J. Biol. Chem. jbc.M110.163253First Published on December 28, 2010, doi:10.1074/jbc.M110.163253
Alexandra Seguin, Renata Santos, Debkumar Pain, Andrew Dancis, Jean-Michel Camadro, Emmanuel Lesuisse
Institut Jacques Monod, France; University of Medicine and Dentistry of New Jersey, United States; University of Pennsylvania, United States
FULL TEXT PDF
Alexandra Seguin, Renata Santos, Debkumar Pain, Andrew Dancis, Jean-Michel Camadro, Emmanuel Lesuisse
Institut Jacques Monod, France; University of Medicine and Dentistry of New Jersey, United States; University of Pennsylvania, United States
FULL TEXT PDF
Enfermedad cardiovascular en pacientes cubanos afectados por Ataxia de Friedreich.
Cardiovascular disease in Cuban patients affected by Friedreich's ataxia. (full text in Spanish)
Revista Electrónica "Ciencias Holguín", Año XVI, No. 4, Mes Diciembre 2010, ISSN 1027-2127.
Dra. Tania Cruz Mariño. Dra. Ana Luz Portelles Caminero. Dr. William Áreas Zalazar. Dr. Luis Velázquez Pérez.
ABSTRACT
In describing the Friedreich's ataxia, Nicholaus referred to cardiac disease. This autosomal recessive disease is due to dynamic mutation in the FRDA gene, encoding the protein frataxin deficiency, leading to oxidative stress and cardiac cell death. This research was conducted in order to describe the cardiovascular abnormalities present in Cuban patients affected by Friedreich's ataxia. Individuals with confirmatory molecular diagnosis of the disease underwent electrocardiogram, echocardiogram, and clinical assessment by internationally validated scales: ICARS and SARA. Ventricular re-polarization disorders diffuse intra-atrial conduction disturbances and disorders of diastolic function were common findings. The restrictive pattern appreciated provides live evidence that the disease leads to left ventricular diastolic dysfunction. The occurrence of a silent acute myocardial infarction indicates the importance of identifying emerging forms of myocardial involvement.
KEY WORDS: FRIEDREICH'S ATAXIA; HEREDITARY ATAXIA; CARDIOMYOPATHY; MYOCARDIAL INFARCTION.
Revista Electrónica "Ciencias Holguín", Año XVI, No. 4, Mes Diciembre 2010, ISSN 1027-2127.
Dra. Tania Cruz Mariño. Dra. Ana Luz Portelles Caminero. Dr. William Áreas Zalazar. Dr. Luis Velázquez Pérez.
ABSTRACT
In describing the Friedreich's ataxia, Nicholaus referred to cardiac disease. This autosomal recessive disease is due to dynamic mutation in the FRDA gene, encoding the protein frataxin deficiency, leading to oxidative stress and cardiac cell death. This research was conducted in order to describe the cardiovascular abnormalities present in Cuban patients affected by Friedreich's ataxia. Individuals with confirmatory molecular diagnosis of the disease underwent electrocardiogram, echocardiogram, and clinical assessment by internationally validated scales: ICARS and SARA. Ventricular re-polarization disorders diffuse intra-atrial conduction disturbances and disorders of diastolic function were common findings. The restrictive pattern appreciated provides live evidence that the disease leads to left ventricular diastolic dysfunction. The occurrence of a silent acute myocardial infarction indicates the importance of identifying emerging forms of myocardial involvement.
KEY WORDS: FRIEDREICH'S ATAXIA; HEREDITARY ATAXIA; CARDIOMYOPATHY; MYOCARDIAL INFARCTION.
Saturday, December 25, 2010
Generation of Induced Pluripotent Stem Cell Lines from Friedreich Ataxia Patients.
Stem Cell Rev. 2010 Dec 22.
Liu J, Verma PJ, Evans-Galea MV, Delatycki MB, Michalska A, Leung J, Crombie D, Sarsero JP, Williamson R, Dottori M, Pébay A.
Centre for Reproduction and Development, Monash Institute of Medical Research, Monash University, Melbourne, Australia,
Keywords: Friedreich ataxia (FRDA), neurodegeneration, cardiomyopathy, trinucleotide (GAA) repeat expansion, FXN gene, frataxin, induced pluripotent stem (iPS) cell lines, skin fibroblasts, pluripotent, peripheral neurons, cardiomyocytes, models, human BAC, immunocompatible cells, transplantation therapy.
Liu J, Verma PJ, Evans-Galea MV, Delatycki MB, Michalska A, Leung J, Crombie D, Sarsero JP, Williamson R, Dottori M, Pébay A.
Centre for Reproduction and Development, Monash Institute of Medical Research, Monash University, Melbourne, Australia,
Keywords: Friedreich ataxia (FRDA), neurodegeneration, cardiomyopathy, trinucleotide (GAA) repeat expansion, FXN gene, frataxin, induced pluripotent stem (iPS) cell lines, skin fibroblasts, pluripotent, peripheral neurons, cardiomyocytes, models, human BAC, immunocompatible cells, transplantation therapy.
Thursday, December 23, 2010
PREIMPLANTATION GENETIC DIAGNOSIS (PGD)
Important Info: Although it is a private center information, explains very well the technique, in layman's language ,I do not try in any way publicize the medical center.
PREIMPLANTATION GENETIC DIAGNOSIS (PGD) Patient Information
Some couples are at risk of transmitting an inherited disease to their children. One of the couple may be affected by this disease, or they each may carry a mutation, which if both were inherited by a child would cause the disease. Preimplantation genetic diagnosis (PGD) is a way of detecting a specific disease-causing genetic mutation within an embryo before it is transferred to the womb and forms a pregnancy.
PREIMPLANTATION GENETIC DIAGNOSIS (PGD) Patient Information
Some couples are at risk of transmitting an inherited disease to their children. One of the couple may be affected by this disease, or they each may carry a mutation, which if both were inherited by a child would cause the disease. Preimplantation genetic diagnosis (PGD) is a way of detecting a specific disease-causing genetic mutation within an embryo before it is transferred to the womb and forms a pregnancy.
Rare diseases, orphan drugs and their regulation: questions and misconceptions
Nature Reviews Drug Discovery 9, 921-929 (December 2010) | doi:10.1038/nrd3275
Erik Tambuyzer
Sustained advocacy efforts driven by patients' organizations to make rare diseases a health priority have led to regulatory and economic incentives for .....
Erik Tambuyzer
Sustained advocacy efforts driven by patients' organizations to make rare diseases a health priority have led to regulatory and economic incentives for .....
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