Ataxia. Umar Akbar, Tetsuo Ashizawa, Neurologic Clinics, Volume 33, Issue 1, February 2015, Pages 225-248, ISSN 0733-8619, http://dx.doi.org/10.1016/j.ncl.2014.09.004.
Keywords: Ataxia; Inherited; Sporadic; Autosomal dominant; Autosomal recessive; Mitochondrial; Diagnosis; Treatment
Friday, December 5, 2014
Topoisomerase I Plays a Critical Role in Suppressing Genome Instability at a Highly Transcribed G-Quadruplex-Forming Sequence
Topoisomerase I Plays a Critical Role in Suppressing Genome Instability at a Highly Transcribed G-Quadruplex-Forming Sequence . Puja Yadav, Victoria Harcy, Juan Lucas Argueso, Margaret Dominska, Sue Jinks-Robertson, Nayun Kim; PLoS Genet 10(12): e1004839. doi:10.1371/journal.pgen.1004839
OPEN ACCESS, FULL TEXT PDF
Genomic instability at purine-rich GAA•TTC repeats and CAG•CTG repeats, which can fold into three-stranded H-DNA and a slipped hairpin structure, forms the molecular basis of multiple neurodegenerative diseases, such as Freidreich's Ataxia and Huntington's disease, respectively.
OPEN ACCESS, FULL TEXT PDF
Genomic instability at purine-rich GAA•TTC repeats and CAG•CTG repeats, which can fold into three-stranded H-DNA and a slipped hairpin structure, forms the molecular basis of multiple neurodegenerative diseases, such as Freidreich's Ataxia and Huntington's disease, respectively.
Wednesday, December 3, 2014
Hawking's speech software goes open source for disabled
Hawking's speech software goes open source for disabled. Phys-Org News 12/2014
The system that helps Stephen Hawking communicate with the outside world will be made available online from January in a move that could help millions of motor neurone disease sufferers, scientists said Tuesday.
The system that helps Stephen Hawking communicate with the outside world will be made available online from January in a move that could help millions of motor neurone disease sufferers, scientists said Tuesday.
Friedreich ataxia in chinese population (short note)
Friedreich ataxia in chinese population. Dr Xuefeng Pan, Dr Xuefeng Pan's Web Log
We have identified at least two cases of Friedreich ataxia in chinese population in chinese mainland, our findings for the first time unraveled a fact that Chinese people are also vulnerable to Friedreich ataxia
We have identified at least two cases of Friedreich ataxia in chinese population in chinese mainland, our findings for the first time unraveled a fact that Chinese people are also vulnerable to Friedreich ataxia
Tuesday, December 2, 2014
Consensus clinical management guidelines for Friedreich ataxia
Consensus clinical management guidelines for Friedreich ataxia.. Louise A Corben, David Lynch, Massimo Pandolfo, Jörg B Schulz, Martin B Delatycki and On behalf of the Clinical Management Guidelines Writing Group; Orphanet Journal of Rare Diseases 2014, 9:184 doi:10.1186/s13023-014-0184-7
OPEN ACCESS (Summary of recommendations and process of developing the guidelines).
FARA FUNDED: Awesome document with the support of FARA. A knowledge upgrade which gathers the views of clinicians from several countries. It has been developed under the newest international standards of assessment and analysis of the clinical management of the disease.
Consensus Clinical Management Guidelines (Full Text Only Available on the FARA Website)
User's Guide
Authors:
Executive committee: Professor Martin Delatycki, Dr Louise Corben, Professor Massimo Pandolfo, Professor David Lynch, Professor Jörg Shultz.
Contributing authors: Dr Laura Balcer (USA), Mr Ron Bartek (USA), Dr Claire Bates (UK), Ms Emma Campagna (Australia), Dr Louise Corben (Australia), Dr Miriam Cnop (Belgium), Professor Martin Delatycki (Australia), Professor Alexandra Dürr (France), Dr Anton Emmanuel (UK), Ms Jennifer Farmer (USA), Professor John Flynn (USA), Ms Lisa S. Friedman (USA), Dr Paola Giunti (UK), Dr Marios Hadjivassiliou (UK), Dr Michael Ho (Australia), Dr Grazia Isaya (USA), Dr Mary Kearney (Ireland), Ms Melissa Loucas (UK), Professor David R. Lynch (USA), Dr Caterina Marotti (Italy), Ms Sarah Milne (Australia), Dr Thierry Morlet (USA), Dr Andrew McGarry (USA), Professor Massimo Pandolfo (Belgium), Dr Jalesh Panicker (UK), Dr Michael Parkinson (UK), Dr R Mark Payne (USA), Dr Roger Peverill (Australia), Associate Professor Gary Rance (Australia), Ms Lucy Rodriguez (UK), Ms Kimberly A. Schadt (USA), Ms Lauren Seyer (USA), Professor Jörg Shultz (Germany), Dr S.H Subramony (USA), Dr. Kelly L. Sullivan (USA), Dr Adam Vogel (Australia), Dr Eppie Yiu (Australia), Dr Grace Yoon (Canada), Dr. Theresa A. Zesiewicz (USA).
OPEN ACCESS (Summary of recommendations and process of developing the guidelines).
FARA FUNDED: Awesome document with the support of FARA. A knowledge upgrade which gathers the views of clinicians from several countries. It has been developed under the newest international standards of assessment and analysis of the clinical management of the disease.
Consensus Clinical Management Guidelines (Full Text Only Available on the FARA Website)
User's Guide
Authors:
Executive committee: Professor Martin Delatycki, Dr Louise Corben, Professor Massimo Pandolfo, Professor David Lynch, Professor Jörg Shultz.
Contributing authors: Dr Laura Balcer (USA), Mr Ron Bartek (USA), Dr Claire Bates (UK), Ms Emma Campagna (Australia), Dr Louise Corben (Australia), Dr Miriam Cnop (Belgium), Professor Martin Delatycki (Australia), Professor Alexandra Dürr (France), Dr Anton Emmanuel (UK), Ms Jennifer Farmer (USA), Professor John Flynn (USA), Ms Lisa S. Friedman (USA), Dr Paola Giunti (UK), Dr Marios Hadjivassiliou (UK), Dr Michael Ho (Australia), Dr Grazia Isaya (USA), Dr Mary Kearney (Ireland), Ms Melissa Loucas (UK), Professor David R. Lynch (USA), Dr Caterina Marotti (Italy), Ms Sarah Milne (Australia), Dr Thierry Morlet (USA), Dr Andrew McGarry (USA), Professor Massimo Pandolfo (Belgium), Dr Jalesh Panicker (UK), Dr Michael Parkinson (UK), Dr R Mark Payne (USA), Dr Roger Peverill (Australia), Associate Professor Gary Rance (Australia), Ms Lucy Rodriguez (UK), Ms Kimberly A. Schadt (USA), Ms Lauren Seyer (USA), Professor Jörg Shultz (Germany), Dr S.H Subramony (USA), Dr. Kelly L. Sullivan (USA), Dr Adam Vogel (Australia), Dr Eppie Yiu (Australia), Dr Grace Yoon (Canada), Dr. Theresa A. Zesiewicz (USA).
Sunday, November 30, 2014
Project: Increasing the expression of frataxin with the CRISPR system
Increasing the expression of frataxin with the CRISPR system. Mitacs (Mitacs is a national, not-for-profit organization that has designed and delivered research and training programs in Canada for 15 years) 2014
Intern: Noëlia Sanchez
Faculty Supervisor: Jacques Tremblay
Project Year: 2014
Province: Quebec
University: Université Laval & Canadian Association of Familial Ataxia
Partner: Feldan inc
Intern: Noëlia Sanchez
Faculty Supervisor: Jacques Tremblay
Project Year: 2014
Province: Quebec
University: Université Laval & Canadian Association of Familial Ataxia
Partner: Feldan inc
Thursday, November 27, 2014
Mammalian iron–sulphur proteins: novel insights into biogenesis and function
Mammalian iron–sulphur proteins: novel insights into biogenesis and function. Tracey A. Rouault; Nature Reviews Molecular Cell Biology (2014), doi:10.1038/nrm3909 published online 26 November 2014
Fe–S clusters are probably an unrecognized and elusive cofactor of many known proteins.
Fe–S clusters are probably an unrecognized and elusive cofactor of many known proteins.
Transcription-Coupled Nucleotide Excision Repair Factors Promote R-Loop-Induced Genome Instability
Transcription-Coupled Nucleotide Excision Repair Factors Promote R-Loop-Induced Genome Instability. Pages Julie Sollier, Caroline Townsend Stork, María L. García-Rubio, Renee D. Paulsen, Andrés Aguilera, Karlene A. Cimprich; Molecular Cell, Available online 26 November 2014, DOI: http://dx.doi.org/10.1016/j.molcel.2014.10.020
An enzyme that fixes broken DNA sometimes destroys it instead
An enzyme that fixes broken DNA sometimes destroys it instead. Medicalxpress. November 26, 2014
"Recent work has also implicated these hybrids in neurodegenerative diseases, including Fragile X syndrome, Friedreich's ataxia and amyotrophic lateral sclerosis type 4," said Julie Sollier, PhD, the lead author of the paper and a postdoctoral researcher. "We would like to explore the potential role of the endonucleases we identified in these diseases as well."
"Recent work has also implicated these hybrids in neurodegenerative diseases, including Fragile X syndrome, Friedreich's ataxia and amyotrophic lateral sclerosis type 4," said Julie Sollier, PhD, the lead author of the paper and a postdoctoral researcher. "We would like to explore the potential role of the endonucleases we identified in these diseases as well."
Pain and itch in a dish: Scientists convert human skin cells into sensory neurons
Pain and itch in a dish: Scientists convert human skin cells into sensory neurons. ScienceDaily. www.sciencedaily.com/releases/2014/11/141125104338.htm (accessed November 26, 2014).
Source: The Scripps Research Institute
These neurons are also affected by spinal cord injury and involved in Friedreich's ataxia.
Journal Reference: Selective conversion of fibroblasts into peripheral sensory neurons. Joel W Blanchard, Kevin T Eade, Attila Szűcs, Valentina Lo Sardo, Rachel K Tsunemoto, Daniel Williams, Pietro Paolo Sanna, Kristin K Baldwin. Nature Neuroscience, 2014; DOI: 10.1038/nn.3887
Source: The Scripps Research Institute
These neurons are also affected by spinal cord injury and involved in Friedreich's ataxia.
Journal Reference: Selective conversion of fibroblasts into peripheral sensory neurons. Joel W Blanchard, Kevin T Eade, Attila Szűcs, Valentina Lo Sardo, Rachel K Tsunemoto, Daniel Williams, Pietro Paolo Sanna, Kristin K Baldwin. Nature Neuroscience, 2014; DOI: 10.1038/nn.3887
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