DNA Mismatch Repair Complex MutSβ Promotes GAA·TTC Repeat Expansion

DNA Mismatch Repair Complex MutSβ Promotes GAA·TTC Repeat Expansion ; Anasheh Halabi, Scott Ditch, Jeffrey Wang, and Ed Grabczyk; J. Biol. Chem. 2012 287: 29958-29967. First Published on July 11, 2012, doi:10.1074/jbc.M112.356758

Keywords: DNA repair, CAG·CTG repeat expansion, Friedreich ataxia (FRDA), human cellular model, expansion rate, DNA repair enzymes, MutSβ, MSH2, MSH3, FXN gene. therapeutic target.

Hypertrophic Cardiomyopathy–What Is New?

Hypertrophic Cardiomyopathy–What Is New?; P. Gregor, K. Curila; Cor et Vasa, Available online 22 August 2012, ISSN 0010-8650, 10.1016/j.crvasa.2012.08.005. (http://www.sciencedirect.com/science/article/pii/S0010865012000975?v=s5)

Keywords: Hypertrophic cardiomyopathy; Myocardial hypertrophy; Therapy of hypertrophic; Cardiomyopathy; Septal myectomy; Percutaneous septal myocardial ablation

MDA Commits $10.7 Million to Neuromuscular Disease Research

QUEST, MDA'S Research & Health Magazine; July-September 2012 Issue, Tuesday August 21, 2012

Friedreich's Ataxia-specific grant: Investigators will be studying how Schwann cells cause nerve damage (neuropathy) in Friedreich's ataxia.

Fellowship: Transcriptional control of the frataxin gene

Fellowship posted by Italian Ministry of Education, University and Research (21/08/2012 02.19). European Research Council funded fellowship Transcriptional control of the frataxin gene

Fellowship: Development of therapeutically active molecules for Friedreich ataxia

Fellowship posted by Italian Ministry of Education, University and Research (21/08/2012 02.20). Development of therapeutically active molecules for Friedreich ataxia

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres. Maartje C Van Rij, Marjan De Rademaeker, Céline Moutou, Jos CFM Dreesen, Martine De Rycke, Inge Liebaers, Joep PM Geraedts, Christine EM De Die-Smulders, Stéphane Viville and on behalf of the BruMaStra PGD working group; European Journal of Human Genetics 20, 368-375 (April 2012) | doi:10.1038/ejhg.2011.202

To consider new pregnancy possibility when there is a previous confirmed diagnosis of a child with FA is an issue that usually concerns many young couples. The "Preimplantation genetic diagnosis" (PGD) also can be a valuable and safe reproductive option for FA carriers and couples at risk of transmitting FA.
(Without consider ethical implications and personal religious beliefs).

Mitochondrial sirtuins: regulators of protein acylation and metabolism

Mitochondrial sirtuins: regulators of protein acylation and metabolism; Wenjuan He, John C. Newman, Margaret Z. Wang, Linh Ho, Eric Verdin; Trends in Endocrinology & Metabolism, Available online 16 August 2012, ISSN 1043-2760, 10.1016/j.tem.2012.07.004. (http://www.sciencedirect.com/science/article/pii/S1043276012001294)

Keywords: mitochondria, sirtuins, lysine acylation, metabolism, NAD+-dependent protein deacetylases, stress responses, SIRT3, SIRT4, SIRT5, deacetylation, demalonylation, desuccinylation.

The optic nerve: A “mito-window” on mitochondrial neurodegeneration

The optic nerve: A “mito-window” on mitochondrial neurodegeneration. Alessandra Maresca, Chiara la Morgia, Leonardo Caporali, Maria Lucia Valentino, Valerio Carelli; Molecular and Cellular Neuroscience, Available online 14 August 2012, ISSN 1044-7431, 10.1016/j.mcn.2012.08.004. (http://www.sciencedirect.com/science/article/pii/S1044743112001315?v=s5)

 Keywords: Mitochondrial disease, Optic atrophy, Mitochondrial functions, LHON, DOA, Friedreich's Ataxia, Retinal ganglion cells

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Job vacancies at Laboratory of Annalisa Pastore, MRC National Institute for Medical Research, London

Career Development Fellowship, Structural characterization of the iron sulfur cluster biogenesis machinery, Division of Molecular Structure, Laboratory of Annalisa Pastore

Heterotrifunctional chemical crosslinking mass spectrometry confirms physical interaction between human frataxin and ISU

Heterotrifunctional chemical crosslinking mass spectrometry confirms physical interaction between human frataxin and ISU. Watson HM, Gentry LE, Asuru AP, Wang Y, Marcus S, Busenlehner LS.; Biochemistry. 2012 Aug 16. [Epub ahead of print]

Keywords: Friedreich's ataxia, frataxin, iron chaperone, iron-sulfur clusters, new protein partners and pathways.