BioTechniques, Vol. 50, No. 3, March 2011
Timothy P. Holloway*1,2, Simone M. Rowley*1, Martin B. Delatycki1,3, 4, and Joseph P. Sarsero1,2, 3
1Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia
2Cell and Gene Therapy, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia
3Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia
4Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia
"simple and rapid PCR- and restriction enzyme–based assay", "Interruptions in the GAA repeat may serve to alleviate the inhibitory effects of the GAA expansion on FXN gene expression and to decrease pathogenicity"
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Friday, January 28, 2011
Thursday, January 27, 2011
Mammalian Frataxin: An Essential Function for Cellular Viability through an Interaction with a Preformed ISCU/NFS1/ISD11 Iron-Sulfur Assembly Complex
PLoS ONE 6(1): e16199. doi:10.1371/journal.pone.0016199
Stéphane Schmucker1,2,3,4,5, Alain Martelli1,2,3,4,5, Florent Colin1,2,3,4,5, Adeline Page1,2,3,4, Marie Wattenhofer-Donzé1,2,3,4,5, Laurence Reutenauer1,2,3,4,5, Hélène Puccio1,2,3,4,5*
1 Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France, 2 Inserm U596, Illkirch, France, 3 CNRS UMR7104, Illkirch, France, 4 Université de Strasbourg, Strasbourg, France, 5 Chaire de Génétique Humaine, Collège de France, Illkirch, France
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Conclusions/Significance
Our results suggest that the interaction of frataxin with the core ISCU/NFS1/ISD11 complex most likely defines the essential function of frataxin. Our results provide new elements important for further understanding the early steps of de novo Fe-S cluster biosynthesis
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Stéphane Schmucker1,2,3,4,5, Alain Martelli1,2,3,4,5, Florent Colin1,2,3,4,5, Adeline Page1,2,3,4, Marie Wattenhofer-Donzé1,2,3,4,5, Laurence Reutenauer1,2,3,4,5, Hélène Puccio1,2,3,4,5*
1 Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France, 2 Inserm U596, Illkirch, France, 3 CNRS UMR7104, Illkirch, France, 4 Université de Strasbourg, Strasbourg, France, 5 Chaire de Génétique Humaine, Collège de France, Illkirch, France
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Conclusions/Significance
Our results suggest that the interaction of frataxin with the core ISCU/NFS1/ISD11 complex most likely defines the essential function of frataxin. Our results provide new elements important for further understanding the early steps of de novo Fe-S cluster biosynthesis
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The Mitochondrial Connection in Auditory Neuropathy.
Audiol Neurotol 2011;16:398-413 (DOI: 10.1159/000323276)
Cacace AT, Pinheiro JM.
Department of Communication Sciences and Disorders, Wayne State University, Detroit, Mich., USA.
Keywords: Auditory brainstem responses, Auditory neuropathy, Charcot-Marie-Tooth disease, Autosomal dominant optic atrophy, Cochlear microphonics, Friedreich’s ataxia, Hyperbilirubinemia, Respiratory chain, Leber’s hereditary optic neuropathy, Mitochondria, Otoacoustic emissions.
Cacace AT, Pinheiro JM.
Department of Communication Sciences and Disorders, Wayne State University, Detroit, Mich., USA.
Keywords: Auditory brainstem responses, Auditory neuropathy, Charcot-Marie-Tooth disease, Autosomal dominant optic atrophy, Cochlear microphonics, Friedreich’s ataxia, Hyperbilirubinemia, Respiratory chain, Leber’s hereditary optic neuropathy, Mitochondria, Otoacoustic emissions.
Analysis of nucleosome positioning determined by DNA helix curvature in the human genome
Hongde Liu, Xueye Duan, Shuangxin Yu and Xiao Sun.
BMC Genomics 2011, 12:72doi:10.1186/1471-2164-12-72
Published: 27 January 2011
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BMC Genomics 2011, 12:72doi:10.1186/1471-2164-12-72
Published: 27 January 2011
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Saturday, January 22, 2011
Dedifferentiation, transdifferentiation and reprogramming: three routes to regeneration
Nature Reviews Molecular Cell Biology 12, 79-89 (February 2011) | doi:10.1038/nrm3043
Chris Jopling1, Stephanie Boue1 & Juan Carlos Izpisua Belmonte1,2
1. Center of Regenerative Medicine in Barcelona. 2. Salk Institute for Biological Studies, La Jolla, California.
Chris Jopling1, Stephanie Boue1 & Juan Carlos Izpisua Belmonte1,2
1. Center of Regenerative Medicine in Barcelona. 2. Salk Institute for Biological Studies, La Jolla, California.
Friday, January 21, 2011
[The various forms of left ventricular hypertrophy : Diagnostic value of echocardiography.]
Herz. 2011 Jan 20. [Epub ahead of print]
Article in German
Weidemann F, Störk S, Herrmann S, Ertl G, Niemann M.
Medizinische Klinik und Poliklinik I, Herz- und Kreislaufzentrum, Universität Würzburg, Oberdürbacherstr. 6, 97080, Würzburg, Deutschland
Keywords:Left ventricular hypertrophy, echocardiography, advanced imaging modalities, hypertrophic obstructive cardiomyopathy, systolic function, thickened septum, concentric left ventricular hypertrophy, Friedreich cardiomyopathy, left ventricular hypertrophy, sparkling granular texture, early diagnosis.
Article in German
Weidemann F, Störk S, Herrmann S, Ertl G, Niemann M.
Medizinische Klinik und Poliklinik I, Herz- und Kreislaufzentrum, Universität Würzburg, Oberdürbacherstr. 6, 97080, Würzburg, Deutschland
Keywords:Left ventricular hypertrophy, echocardiography, advanced imaging modalities, hypertrophic obstructive cardiomyopathy, systolic function, thickened septum, concentric left ventricular hypertrophy, Friedreich cardiomyopathy, left ventricular hypertrophy, sparkling granular texture, early diagnosis.
Tuesday, January 18, 2011
Systems biological approach on neurological disorders: a novel molecular connectivity to aging and psychiatric diseases
BMC Systems Biology 2011, 5:6doi:10.1186/1752-0509-5-6
Shiek S.S.J Ahmed, Abdul R. Ahameethunisa, Winkins Santosh, Srinivasa Chakravarthy and Suresh Kumar
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This study improves the understanding of the complex interactions that occur between neurological and psychiatric diseases with aging, which lead to determine the diagnostic markers. Also, the disease-disease association results could be helpful to determine the symptom relationships between neurological and psychiatric diseases. Together, our study presents many research opportunities in post-genomic biomarker development.
"this approach provides the additional information that PDHB is not only associated with Parkinson’s disease but also associated with Athetosis and Friedreich Ataxia"
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Shiek S.S.J Ahmed, Abdul R. Ahameethunisa, Winkins Santosh, Srinivasa Chakravarthy and Suresh Kumar
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This study improves the understanding of the complex interactions that occur between neurological and psychiatric diseases with aging, which lead to determine the diagnostic markers. Also, the disease-disease association results could be helpful to determine the symptom relationships between neurological and psychiatric diseases. Together, our study presents many research opportunities in post-genomic biomarker development.
"this approach provides the additional information that PDHB is not only associated with Parkinson’s disease but also associated with Athetosis and Friedreich Ataxia"
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Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy
Genome Med 2010, 2:91 doi:10.1186/gm212
Rosamaria Santarelli, Department of Medical and Surgical Specialities, Service of Audiology and Phoniatrics, University of Padua
Keywords: Auditory neuropathy (AN), disruption of auditory nerve activity, impairment of speech perception, hearing loss, abnormality of auditory brainstem potentials, preserved outer hair-cell activities, multisystem involvement, peripheral and optic neuropathies, abnormal cochlear potentials have been recorded from patients, genetically based auditory neuropathies, molecular mechanisms.
Rosamaria Santarelli, Department of Medical and Surgical Specialities, Service of Audiology and Phoniatrics, University of Padua
Keywords: Auditory neuropathy (AN), disruption of auditory nerve activity, impairment of speech perception, hearing loss, abnormality of auditory brainstem potentials, preserved outer hair-cell activities, multisystem involvement, peripheral and optic neuropathies, abnormal cochlear potentials have been recorded from patients, genetically based auditory neuropathies, molecular mechanisms.
Saturday, January 15, 2011
In Focus: Friedreich’s Ataxia, MDA Special Report on Friedreich’s Ataxia
A new MDA special report on Friedreich’s ataxia (FA) is now available online. The report provides a wide range of information about FA, including research news, medical management updates and personal stories from people affected by the disease.
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Friday, January 14, 2011
Friedreich's Ataxia (GAA)n•(TTC)n Repeats Strongly Stimulate Mitotic Crossovers in Saccharomyces cerevisae
1 Department of Molecular Genetics and Microbiology, Duke University, Durham, North Carolina, United States of America, 2 School of Biology and Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, Georgia, United States of America, 3 Department of Biology, Tufts University, Medford, Massachusetts, United States of America
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Although meiotic recombination has been much more studied than mitotic recombination, mitotic recombination is a universal property. Meiotic recombination rates are quite variable within the genome, with some chromosomal regions (hotspots) having much higher levels of exchange than other regions (coldspots). For mitotic recombination, although some types of DNA sequences are known to be associated with elevated recombination rates (highly-transcribed genes, inverted repeated sequences), relatively few hotspots have been described. In this report, we show that a 690 base pair region consisting of 230 copies of the (GAA)n•(TTC)n trinucleotide repeat stimulates mitotic crossovers in yeast 10,000-fold more strongly than an “average” yeast sequence. This sequence is a preferred site for chromosome breakage in stationary phase yeast cells. Our findings may be relevant to understanding the expansions of the (GAA)n•(TTC)n trinucleotide repeat tracts that are associated with the human disease Friedreich's ataxia.
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