Motor Control. 2010 Oct;14(4):490-508.
Folker JE, Murdoch BE, Cahill LM, Rosen KM, Delatycki MB, Corben LA, Vogel AP.
School of Health and Rehabilitation Sciences, The University of Queensland, St Lucia, Qld,
Australia.
Keywords; Electropalatography (EPG), pattern of linguopalatal contact, consonant phase durations, dysarthria, Friedreich's ataxia (FRDA), articulatory impairment in FRDA.
Saturday, November 6, 2010
Friday, November 5, 2010
Getting to the Core of Repeat Expansions by Cell Reprogramming
Cell Stem Cell, Volume 7, Issue 5, 545-546, 5 November 2010, doi:10.1016/j.stem.2010.10.005.
Sergei M. Mirkin
Keywords: iPSCS, Friedreich's ataxia, (GAA)n repeat, repeat instability, epigenetic signature.
FULL TEXT PDF
Sergei M. Mirkin
Keywords: iPSCS, Friedreich's ataxia, (GAA)n repeat, repeat instability, epigenetic signature.
FULL TEXT PDF
Thursday, November 4, 2010
Scripps Research team implicates wayward DNA-repair enzyme in Friedreich's ataxia
Easy to understand explanation of this recently published paper
Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability.
Various sources:
http://www.physorg.com/news/2010-11-implicate-wayward-dna-repair-enzyme-friedreich.html
http://www.sciencecodex.com/scripps_research_team_implicates_wayward_dnarepair_enzyme_in_friedreichs_ataxia
Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability.
Various sources:
http://www.physorg.com/news/2010-11-implicate-wayward-dna-repair-enzyme-friedreich.html
http://www.sciencecodex.com/scripps_research_team_implicates_wayward_dnarepair_enzyme_in_friedreichs_ataxia
TRPing up the genome: tandem repeat polymorphisms as dynamic sources of genetic variability in health and disease.
Discov Med. 2010 Oct;10(53):314-21.
Hannan AJ.
Howard Florey Institute, Florey Neuroscience Institutes and Department of Anatomy and Cell Biology, University of Melbourne, Melbourne, Victoria 3010, Australia
Keyword: Repetitive DNA sequences, tandem repeat polymorphisms (TRPs), genomic variability, post-mitotic instability, neuronal function and dysfunction, single nucleotide polymorphisms (SNPs), monogenic disorders, Huntington's disease, spinocerebellar ataxias, polyglutamine diseases, Friedreich ataxia, fragile X syndrome, myoclonic epilepsy, polyalanine disorders, myotonic dystrophy. "missing heritability".
Hannan AJ.
Howard Florey Institute, Florey Neuroscience Institutes and Department of Anatomy and Cell Biology, University of Melbourne, Melbourne, Victoria 3010, Australia
Keyword: Repetitive DNA sequences, tandem repeat polymorphisms (TRPs), genomic variability, post-mitotic instability, neuronal function and dysfunction, single nucleotide polymorphisms (SNPs), monogenic disorders, Huntington's disease, spinocerebellar ataxias, polyglutamine diseases, Friedreich ataxia, fragile X syndrome, myoclonic epilepsy, polyalanine disorders, myotonic dystrophy. "missing heritability".
Wednesday, November 3, 2010
Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability.
Cell Stem Cell. 2010 Nov 5;7(5):631-7.
Ku S, Soragni E, Campau E, Thomas EA, Altun G, Laurent LC, Loring JF, Napierala M, Gottesfeld JM.
Department of Molecular Biology, The Scripps Research Institute, 10550 N. Torrey Pines Road, La Jolla, CA 92037, USA.
Keywords: Friedreich's ataxia (FRDA), GAA⋅TTC triplet repeat, frataxin, heterochromatin-mediated gene silencing, induced pluripotent stem cells (iPSCs), fibroblasts, repeat instability, repair enzyme MSH2, shRNA silencing of MSH2.
Ku S, Soragni E, Campau E, Thomas EA, Altun G, Laurent LC, Loring JF, Napierala M, Gottesfeld JM.
Department of Molecular Biology, The Scripps Research Institute, 10550 N. Torrey Pines Road, La Jolla, CA 92037, USA.
Keywords: Friedreich's ataxia (FRDA), GAA⋅TTC triplet repeat, frataxin, heterochromatin-mediated gene silencing, induced pluripotent stem cells (iPSCs), fibroblasts, repeat instability, repair enzyme MSH2, shRNA silencing of MSH2.
Sunday, October 31, 2010
Neuronal inactivation of PPAR{gamma} Coactivator 1{alpha}(PGC-1{alpha}) protects mice from diet-induced obesity and leads to degenerative lesions.
J Biol Chem. 2010 Oct 13. [Epub ahead of print]
Ma D, Li S, Lucas EK, Cowell RM, Lin JD.
Life Sciences Institute and Department of Cell & Developmental Biology, University of Michigan;
These studies have demonstrated a physiological role for neuronal PGC-1α in the control of energy balance and strongly suggest that neuronal PGC-1α exerts profound effects on the neural circuitry that governs systemic energy balance.
FULL TEXT PDF
Remark: Interesting conclusions about the action of PGC1-alpha in the neurons, I would like to emphasize that the action of PGC1-a is greatly diminished in the FA.
Ma D, Li S, Lucas EK, Cowell RM, Lin JD.
Life Sciences Institute and Department of Cell & Developmental Biology, University of Michigan;
These studies have demonstrated a physiological role for neuronal PGC-1α in the control of energy balance and strongly suggest that neuronal PGC-1α exerts profound effects on the neural circuitry that governs systemic energy balance.
FULL TEXT PDF
Remark: Interesting conclusions about the action of PGC1-alpha in the neurons, I would like to emphasize that the action of PGC1-a is greatly diminished in the FA.
Friday, October 29, 2010
Structural; Mechanistic and Coordination Chemistry of Relevance to the Biosynthesis of Iron-Sulfur and Related Iron Cofactors
Coordination Chemistry Reviews, doi:10.1016/j.ccr.2010.10.016
Structural; Mechanistic and Coordination Chemistry of Relevance to the Biosynthesis of Iron-Sulfur and Related Iron Cofactors
Wenbin Qi (a) and J.A. Cowan (a,b)
a Ohio State Biochemistry Program, The Ohio State University
b Department of Chemistry, The Ohio State University
Available online 28 October 2010.
Structural; Mechanistic and Coordination Chemistry of Relevance to the Biosynthesis of Iron-Sulfur and Related Iron Cofactors
Wenbin Qi (a) and J.A. Cowan (a,b)
a Ohio State Biochemistry Program, The Ohio State University
b Department of Chemistry, The Ohio State University
Available online 28 October 2010.
Patent application title: FORMULATIONS OF TOCOTRIENOL QUINONES FOR THE TREATMENT OF OPHTHALMIC DISEASES
Inventors: William D. Shrader Viktoria Kheifets Guy M. MILLER
Publication date: 10/28/2010
.../...
14. The method according to claim 6, wherein the ocular symptoms are associated with inherited mitochondrial diseases; Chronic Progressive External Opthalmoplegia (CPEO); Spinocerebellar ataxia (SCA), also called Machado-Joseph disease; Leigh's Syndrome; Friedreich's ataxia (FRDA); Mitochondrial Myopathy, ....
.../...
Publication date: 10/28/2010
.../...
14. The method according to claim 6, wherein the ocular symptoms are associated with inherited mitochondrial diseases; Chronic Progressive External Opthalmoplegia (CPEO); Spinocerebellar ataxia (SCA), also called Machado-Joseph disease; Leigh's Syndrome; Friedreich's ataxia (FRDA); Mitochondrial Myopathy, ....
.../...
Thursday, October 28, 2010
Research offers clues to mechanisms behind childhood-onset disorder, Friedreich's ataxia
Wayne State University, Public Relations, October 28, 2010.
Wayne State University researcher reviews link between frataxin and iron-sulfur clusters
DETROIT - Friedreich's ataxia is a childhood-onset disorder that causes progressive sensory and muscle loss. The molecular mechanisms and processes behind the incurable disorder are still in question, but a Wayne State University researcher is getting closer to the answer.
Timothy L. Stemmler, Ph.D., associate professor of biochemistry and molecular biology in WSU's School of Medicine, has studied the causality of Friedriech's ataxia......
Read more
Wayne State University researcher reviews link between frataxin and iron-sulfur clusters
DETROIT - Friedreich's ataxia is a childhood-onset disorder that causes progressive sensory and muscle loss. The molecular mechanisms and processes behind the incurable disorder are still in question, but a Wayne State University researcher is getting closer to the answer.
Timothy L. Stemmler, Ph.D., associate professor of biochemistry and molecular biology in WSU's School of Medicine, has studied the causality of Friedriech's ataxia......
Read more
Wednesday, October 27, 2010
Exploration of transitional life events in individuals with Friedreich ataxia: Implications for genetic counseling
Behavioral and Brain Functions 2010, 6:65doi:10.1186/1744-9081-6-65
Published: 27 October 2010
V Brook White1*, Jennifer R Leib 2, Jennifer M Farmer3, Barbara B Biesecker4
1Clinical Genetics, Carolinas Medical Center, PO Box 32861, Charlotte, NC 28232-
2861, USA
2HealthFutures, Washington, DC, USA
3Friedreich’s Ataxia Research Alliance, Exton, PA, USA
4National Human Genome Research Institute, National Institutes of Health,
Bethesda, MD, USA
OPEN ACCESS
Background
Human development is a process of change, adaptation and growth. Throughout this process, transitional events mark important points in time when one's life course is significantly altered. This study captures transitional life events brought about or altered by Friedreich ataxia, a progressive chronic illness leading to disability, and the impact of these events on an affected individual's life course.
Methods
Forty-two adults with Friedreich ataxia (18-65y) were interviewed regarding their perceptions of transitional life events. Data from the interviews were coded and analyzed thematically using an iterative process.
Results
Identified transitions were either a direct outcome of Friedreich ataxia, or a developmental event altered by having the condition. Specifically, an awareness of symptoms, fear of falling and changes in mobility status were the most salient themes from the experience of living with Friedreich ataxia. Developmental events primarily influenced by the condition were one's relationships and life's work.
Conclusions
Friedreich ataxia increased the complexity and magnitude of transitional events for study participants. Transitional events commonly represented significant loss and presented challenges to self-esteem and identity. Findings from this study help alert professionals of potentially challenging times in patients' lives, which are influenced by chronic illness or disability. Implications for developmental counseling approaches are suggested for genetic counseling.
FULL TEXT PDF
Published: 27 October 2010
V Brook White1*, Jennifer R Leib 2, Jennifer M Farmer3, Barbara B Biesecker4
1Clinical Genetics, Carolinas Medical Center, PO Box 32861, Charlotte, NC 28232-
2861, USA
2HealthFutures, Washington, DC, USA
3Friedreich’s Ataxia Research Alliance, Exton, PA, USA
4National Human Genome Research Institute, National Institutes of Health,
Bethesda, MD, USA
OPEN ACCESS
Background
Human development is a process of change, adaptation and growth. Throughout this process, transitional events mark important points in time when one's life course is significantly altered. This study captures transitional life events brought about or altered by Friedreich ataxia, a progressive chronic illness leading to disability, and the impact of these events on an affected individual's life course.
Methods
Forty-two adults with Friedreich ataxia (18-65y) were interviewed regarding their perceptions of transitional life events. Data from the interviews were coded and analyzed thematically using an iterative process.
Results
Identified transitions were either a direct outcome of Friedreich ataxia, or a developmental event altered by having the condition. Specifically, an awareness of symptoms, fear of falling and changes in mobility status were the most salient themes from the experience of living with Friedreich ataxia. Developmental events primarily influenced by the condition were one's relationships and life's work.
Conclusions
Friedreich ataxia increased the complexity and magnitude of transitional events for study participants. Transitional events commonly represented significant loss and presented challenges to self-esteem and identity. Findings from this study help alert professionals of potentially challenging times in patients' lives, which are influenced by chronic illness or disability. Implications for developmental counseling approaches are suggested for genetic counseling.
FULL TEXT PDF
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