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

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.

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."

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

Histone deacetylases (HDACs) and brain function

Histone deacetylases (HDACs) and brain function. Claude-Henry Volmar, Claes Wahlestedt, Neuroepigenetics, Available online 18 November 2014, ISSN 2214-7845, http://dx.doi.org/10.1016/j.nepig.2014.10.002.

Very little work has been done regarding the role of HDACs in neurologic disorders; however, a few studies show great promise. HDACs have been proposed as a target against the autosomal recessive neurodegenerative disorder Friedreich ataxia (FRDA)

Tangled web of interactions among proteins involved in iron-sulfur cluster assembly as unraveled by NMR, SAXS, chemical crosslinking, and functional studies

Tangled web of interactions among proteins involved in iron-sulfur cluster assembly as unraveled by NMR, SAXS, chemical crosslinking, and functional studies. Jin Hae Kim, Jameson R. Bothe, T. Reid Alderson, John L. Markley, Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Available online 22 November 2014, ISSN 0167-4889, http://dx.doi.org/10.1016/j.bbamcr.2014.11.020.

FULL TEXT

Therapeutic strategies in mitochondrial disorders

Therapeutic strategies in mitochondrial disorders . Josef Finsterer, P.S. Bindu, Pediatric Neurology, Available online 15 November 2014, ISSN 0887-8994, http://dx.doi.org/10.1016/j.pediatrneurol.2014.06.023.

Despite the lack of a causal treatment for mitochondrial disorders, a nihilistic attitude towards the treatment issue is not justified. A number of studies are under way to search for causal approaches and highly effective symptomatic measures are available.

Coupling Transcriptional State to Large-Scale Repeat Expansions in Yeast

Coupling Transcriptional State to Large-Scale Repeat Expansions in Yeast . Kartik A. Shah, Ryan J. McGinty, Vera I. Egorova, Sergei M. Mirkin, Cell Reports, Available online 20 November 2014, ISSN 2211-1247, http://dx.doi.org/10.1016/j.celrep.2014.10.048.

FULL TEXT

The Future of Neuroepigenetics in the Human Brain

The Future of Neuroepigenetics in the Human Brain. Amanda Mitchell, Panos Roussos, Cyril Peter, Nadejda Tsankova, Schahram Akbarian, Chapter Eight - In: Schahram Akbarian and Farah Lubin, Editor(s), Progress in Molecular Biology and Translational Science, Academic Press, 2014, Volume 128, Pages 199-228, ISSN 1877-1173, ISBN 9780128009772, http://dx.doi.org/10.1016/B978-0-12-800977-2.00008-5.

Imaging of Mitochondrial Dynamics in Motor and Sensory Axons of Living Mice

Imaging of Mitochondrial Dynamics in Motor and Sensory Axons of Living Mice. Irene Bolea, Wen-Biao Gan, Giovanni Manfedi, Jordi Magrané, n: Anne N. Murphy and David C. Chan, Editor(s), Methods in Enzymology, Academic Press, 2014, Volume 547, Pages 97-110, ISSN 0076-6879, ISBN 9780128014158, http://dx.doi.org/10.1016/B978-0-12-801415-8.00006-0.

Poor fluorodeoxyglucose uptake in myocardial viability study in nondiabetic Friedreich's ataxia patient.

Poor fluorodeoxyglucose uptake in myocardial viability study in nondiabetic Friedreich's ataxia patient. Patil S, Lele V., Indian J Nucl Med. 2014 Oct;29(4):262-3. doi: 10.4103/0972-3919.142638.

Computational analysis of evolutionary and structural aspects of Cryptochromes and Frataxins.

Computational analysis of evolutionary and structural aspects of Cryptochromes and Frataxins.[Ph.D. thesis], Tosatto, Silvio C E, University
of Padova, 31 January 2014.

FULL TEXT

Dr. Susan Perlman appeared on American Health Journal Nov 7to discuss Friedreich’s Ataxia

Dr. Susan Perlman appeared on American Health Journal Nov 7 to discuss Friedreich’s Ataxia.  (the section about Friedreich’s Ataxia starts at 15:39)

Dr. Susan Perlman appeared on American Health Journal this Friday to discuss Friedreich’s Ataxia (FA) along with one of her patients, Stephanie Magness. They educated viewers on the clinical aspects of the disease as well as daily life and clinical studies.

Suppression of Enhanced Physiological Tremor via Stochastic Noise: Initial Observations

Suppression of Enhanced Physiological Tremor via Stochastic Noise: Initial Observations. Trenado C, Amtage F, Huethe F, Schulte-Mönting J, Mendez-Balbuena I, Stuart N. Baker, Mark Baker, Marie-Claude Hepp-Reymond, Elias Manjarrez, Rumyana Kristeva; PLoS ONE 9(11): e112782. doi:10.1371/journal.pone.0112782

OPEN ACCESS

Fe-S cluster biogenesis in isolated mammalian mitochondria: coordinated use of persulfide sulfur and iron, and requirements for GTP, NADH, and ATP

Fe-S cluster biogenesis in isolated mammalian mitochondria: coordinated use of persulfide sulfur and iron, and requirements for GTP, NADH, and ATP . Alok Pandey, Jayashree Pain, Arnab K. Ghosh, Andrew Dancis and Debkumar Pain; J. Biol. Chem. jbc.M114.610402. First Published on November 14, 2014, doi:10.1074/jbc.M114.610402

The experimental system as described here may help to define the biochemical basis of diseases that are associated with impaired Fe-S cluster biogenesis in mitochondria such as Friedreich's ataxia.

Mechanism Involved in the Blunted Anti-Oxidant Response in the Frataxin-Deficient Heart: Increased Nrf2 Degradation via both the Keap1 and GSK3β Pathway

Mechanism Involved in the Blunted Anti-Oxidant Response in the Frataxin-Deficient Heart: Increased Nrf2 Degradation via both the Keap1 and GSK3β Pathway. Amy Anzovino, Clare L. Hawkins, Michael L.H. Huang, Des R. Richardson; Free Radical Biology and Medicine, Volume 76, Supplement 1, November 2014, Page S46, ISSN 0891-5849, http://dx.doi.org/10.1016/j.freeradbiomed.2014.10.402.

Transforming Our Approach to Translational Neuroscience: The Role and Impact of Charitable Nonprofits in Research

Transforming Our Approach to Translational Neuroscience: The Role and Impact of Charitable Nonprofits in Research. Cynthia Joyce, Neuron, Volume 84, Issue 3, 5 November 2014, Pages 526-532, ISSN 0896-6273, http://dx.doi.org/10.1016/j.neuron.2014.10.030.

Friedreich Ataxia

Friedreich Ataxia. Massimo Pandolfo; Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease (Fifth Edition). 2015, Pages 833–843

Keywords: Ataxia; Cardiomyopathy; Chromatin; Histone acetylation; Induced pluripotent stem cells; Iron–sulfur clusters; Mitochondria, Iron; Neurodegenerative diseases; Oxidative stress; Transgenic mice; Triplet repeat expansion

NEW TOOL: ClinRegs, an online database of country-specific clinical research regulatory information

NEW: ClinRegs, an online database of country-specific clinical research regulatory information . The National Institutes of Health (NIH)

ClinRegs is an online database of country-specific clinical research regulatory information designed to save time and effort in planning and implementing clinical research.

When Lives Depend on Tech Transfer

When Lives Depend on Tech Transfer . IPWatchdog.com, Written by Joseph Allen, Allen & Associates.
Posted: Nov 3, 2014