Identical mutation associated with distinct clinical phenotypes of Friedreich’s ataxia: case report

Identical mutation associated with distinct clinical phenotypes of Friedreich’s ataxia: case report . M. Malenica, M. Kukuruzović, S. Bitanga, G. Krakar, B. Valent, Lj. Cvitanović-Šojat; Paediatr Croat. 2014;58:291-4 DOI: http://dx.doi.org/10.13112/PC.2014.51

The cases of our patients prove that it is not advisable to foresee the clinical course based solely on thenumber of repeats.

Grant Alert: Elucidating the molecular basis of gene silencing by an ORC-HP1 interaction and their contribution to human health disorders

Grant Alert: Elucidating the molecular basis of gene silencing by an ORC-HP1 interaction and their contribution to human health disorders. Christian Speck (Principal Investigator), Till Bartke (Co-Investigator), Richard J Festenstein (Co-Investigator); Source: RCUK Grant #BBM0037601, Organisation: Imperial College London (BBSRC award)

Misregulation of 'heterochromatin' and HP1 is involved in several diseases, including epigenetic diseases such as Friedreich's Ataxia or Facioscapulohumeral muscular dystrophy.

Molecular genetic analysis of Trinucleotide Repeat Disorders (TRDs) in Indian population and application of repeat primed PCR

Molecular genetic analysis of Trinucleotide Repeat Disorders (TRDs) in Indian population and application of repeat primed PCR. Aneek Das Bhowmik, Savithri Rangaswamiah, G. Srinivas, Ashwin B. Dalal, European Journal of Medical Genetics, Available online 19 December 2014, ISSN 1769-7212, http://dx.doi.org/10.1016/j.ejmg.2014.12.010.

Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)

Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA). ClinicalTrials.gov, Verified December 2014 by Weill Medical College of Cornell University

ClinicalTrials.gov identifier: NCT02316314
Sponsors and Collaborators: Weill Medical College of Cornell University
Principal Investigator: Ronald Crystal, MD

Assembly of Fe/S proteins in bacterial systems ☆: Biochemistry of the bacterial ISC system

Assembly of Fe/S proteins in bacterial systems ☆: Biochemistry of the bacterial ISC system. B. Blanc, C. Gerez, S. Ollagnier de Choudens; Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Available online 13 December 2014, ISSN 0167-4889, http://dx.doi.org/10.1016/j.bbamcr.2014.12.009.

Terapia ocupacional en ataxia de friedreich

Terapia ocupacional en ataxia de friedreich. Ana Cristina Martín Pérez, Dolores Moreno Antequera; Revista electrónica de terapia ocupacional Galicia, TOG, ISSN-e 1885-527X, Nº. 20 (Noviembre), 2014


Occupational therapy in friedreich ataxia (Paper in Spanish)

The objective of this article is to present management "Framework for the practice of occupational therapy (domains and processes) and contrast their utility for assessment, diagnosis and intervention in the area of basic and instrumental activities of daily living daily, leisure time and social participation

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Iron Metabolism and Related Disorders

Iron Metabolism and Related Disorders. K. Hoda, C.L. Bowlus, T.W. Chu and J.R. Gruen, In Reference Module in Biomedical Sciences, Elsevier, 2014, Current as of 1 December 2014, ISBN 9780128012383, http://dx.doi.org/10.1016/B978-0-12-801238-3.05573-2.

Fast-Tracking the Development of Effective Therapeutics in Mitochondrial Medicine

Fast-Tracking the Development of Effective Therapeutics in Mitochondrial Medicine. S P Hersh, Clinical Pharmacology & Therapeutics (2014); 96 6, 641–643. doi:10.1038/clpt.2014.163.

Helix–Coil Transition Induced by Metal Ion Interaction with a Grafted Iron–Binding Site of the CyaY Protein Family

Helix–Coil Transition Induced by Metal Ion Interaction with a Grafted Iron–Binding Site of the CyaY Protein Family. Diego Sebastián Vazquez, William Armando Agudelo, Angel Yone, Nora Vizioli, Martín Arán, Luis Gonzalez Flecha, Mariano Camilo González Lebrero and Javier Santos; Dalton Trans., 2014,
DOI: 10.1039/C4DT02796E

These results contribute to an understanding of the iron–binding mechanisms in proteins and, in particular, in the case of human frataxin.

Protecting the mitochondrial powerhouse

Protecting the mitochondrial powerhouse. Morten Scheibye-Knudsen, Evandro F. Fang, Deborah L. Croteau, David M. Wilson III, Vilhelm A. Bohr; Trends in Cell Biology, Available online 11 December 2014, ISSN 0962-8924, http://dx.doi.org/10.1016/j.tcb.2014.11.002.

Keywords: mitochondria; DNA repair; mitophagy; reactive oxygen species; disease