Bioorganic & Medicinal Chemistry Letters, In Press, Accepted Manuscript, doi:10.1016/j.bmcl.2011.10.117
William D. Shrader a, Akiko Amagata a, Adam Barnes a, Andrew Hinman a, Orion Jankowski a, Edgar Lee a, Viktoria Kheifets a, Ryo Komatsuzaki a, Paul Mollard a, Katsuyuki Murase a, Patrice Rioux c, Kieron Wesson a, Guy Miller a, b
a Edison Pharmaceuticals, Inc., 350 North Bernardo Avenue, Mountain View, CA 94043, USA
b Adjunct Clinical Instructor;Department of Anesthesiology, Critical Care Medicine, Stanford University, Stanford, CA 94305, USA
c Raptor Pharmaceutical Corp. 9 Commercial Blvd., Suite 200 Novato, CA 94949
"has demonstrated a beneficial clinical response in patients with Friedreich’s ataxia"
Keywords: tocoquinone natural product, α-tocopherol quinone (ATQ), α-tocopherol,cellular protectant, oxidative stress, orally bioavailable, pharmacokinetic profile, Friedreich’s ataxia.
Thursday, November 17, 2011
Tuesday, November 15, 2011
New orphan medicinal product designation for Friedreich's Ataxia
10 October 2011, EMA/COMP/811210/2011, Human Medicines Development and Evaluation,
Monthly report, The Committee for Orphan Medicinal Products held its 127th plenary meeting on 5-7 October 2011.
Interferon gamma for treatment of Friedreich’s ataxia, Prof. Roberto Testi.
Monthly report, The Committee for Orphan Medicinal Products held its 127th plenary meeting on 5-7 October 2011.
Interferon gamma for treatment of Friedreich’s ataxia, Prof. Roberto Testi.
Hepatic mitochondrial dysfunction in Friedreich Ataxia
BMC Neurology 2011, 11:145 doi:10.1186/1471-2377-11-145
OPEN ACCESS
Sven H Stüwe1, Oliver Goetze2,3, Larissa Arning4, Matthias Banasch2, Wolfgang E Schmidt2, Ludger Schöls5, 6,Carsten Saft1
1 Department of Neurology, Ruhr-University, St. Josef-Hospital, Bochum, Germany
2 Department of Internal Medicine I, Ruhr-University, St. Josef-Hospital, Bochum, Germany
3 Division of Gastroenterology and Hepatology, University Hospital Zurich, Switzerland
4 Department of Human Genetics, Ruhr-University Bochum, Germany
5 Department of Neurology and Hertie Institute for Clinical Brain Research, Tübingen, Germany
6 German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany
Abstract
Background: Mitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas.
Methods: We assessed hepatic mitochondrial function by 13C-methionine-breath-test in 16 Friedreich ataxia patients and matched healthy controls.
Results: Patients exhaled significantly smaller amounts of 13CO2 over 90 minutes. Maximal exhaled percentage dose of 13CO2 recovery was reduced compared to controls.
Conclusions: 13C-methionine-breath-test indicates subclinical hepatic mitochondrial
dysfunction in Friedreich ataxia but did not correlate with GAA repeat lengths, disease duration or disease severity.
OPEN ACCESS
Sven H Stüwe1, Oliver Goetze2,3, Larissa Arning4, Matthias Banasch2, Wolfgang E Schmidt2, Ludger Schöls5, 6,Carsten Saft1
1 Department of Neurology, Ruhr-University, St. Josef-Hospital, Bochum, Germany
2 Department of Internal Medicine I, Ruhr-University, St. Josef-Hospital, Bochum, Germany
3 Division of Gastroenterology and Hepatology, University Hospital Zurich, Switzerland
4 Department of Human Genetics, Ruhr-University Bochum, Germany
5 Department of Neurology and Hertie Institute for Clinical Brain Research, Tübingen, Germany
6 German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany
Abstract
Background: Mitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas.
Methods: We assessed hepatic mitochondrial function by 13C-methionine-breath-test in 16 Friedreich ataxia patients and matched healthy controls.
Results: Patients exhaled significantly smaller amounts of 13CO2 over 90 minutes. Maximal exhaled percentage dose of 13CO2 recovery was reduced compared to controls.
Conclusions: 13C-methionine-breath-test indicates subclinical hepatic mitochondrial
dysfunction in Friedreich ataxia but did not correlate with GAA repeat lengths, disease duration or disease severity.
Saturday, November 12, 2011
Changes in mitochondrial glutathione levels and protein thiol oxidation in Δyfh1 yeast cells and the lymphoblasts of patients with Friedreich ataxia
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, Available online 11 November 2011, doi:10.1016/j.bbadis.2011.11.003
A.L. Bulteau, S. Planamente, L. Jornea, A. Dur, E. Lesuisse, J.M. Camadro, F. Auchère
Keywords: Friedreich's ataxia; glutathione; iron; mitochondria; thiol oxidation; protein glutathionylation
A.L. Bulteau, S. Planamente, L. Jornea, A. Dur, E. Lesuisse, J.M. Camadro, F. Auchère
Keywords: Friedreich's ataxia; glutathione; iron; mitochondria; thiol oxidation; protein glutathionylation
Friday, November 11, 2011
DNA TRIPLEX STRUCTURES IN HUMAN DISEASE
Rajeswari R. Moganty
Department of Biochemistry, All India Institute of Medical Sciences, New Delhi-110029
KEYWORS: “unusual” DNA structure, human hereditary disorders, the triplet repeat expansion (TRE), Friedreich's ataxia, GAA repeats, Frataxin gene.
Department of Biochemistry, All India Institute of Medical Sciences, New Delhi-110029
KEYWORS: “unusual” DNA structure, human hereditary disorders, the triplet repeat expansion (TRE), Friedreich's ataxia, GAA repeats, Frataxin gene.
Analysis of Echocardiograms in a Large Heterogeneous Cohort of Patients With Friedreich Ataxia
The American Journal of Cardiology, , Available online 10 November 2011, doi:10.1016/j.amjcard.2011.09.025
Sean R. Regner, Sarah J. Lagedrost, Ted Plappert, Erin K. Paulsen, Lisa S. Friedman, Madeline L. Snyder, Susan L. Perlman, Katherine D. Mathews, George R. Wilmot, Kimberly A. Schadt, Martin St. John Sutton, David R. Lynch
Keywords: Friedreich ataxia (FA), cardiomyopathy, echocardiograms, disease duration, subject age, age of onset, functional disability score, GAA repeat length, systolic dysfunction, diastolic dysfunction, hypertrophy.
Sean R. Regner, Sarah J. Lagedrost, Ted Plappert, Erin K. Paulsen, Lisa S. Friedman, Madeline L. Snyder, Susan L. Perlman, Katherine D. Mathews, George R. Wilmot, Kimberly A. Schadt, Martin St. John Sutton, David R. Lynch
Keywords: Friedreich ataxia (FA), cardiomyopathy, echocardiograms, disease duration, subject age, age of onset, functional disability score, GAA repeat length, systolic dysfunction, diastolic dysfunction, hypertrophy.
Annual change in Friedreich's ataxia evaluated by the scale for the assessment and rating of ataxia (SARA) is independent of disease severity
Movement Disorders. doi: 10.1002/mds.23879, Article first published online: 10 NOV 2011
Marelli, C., Figoni, J., Charles, P., Anheim, M., Tchikviladze, M., Vincitorio, C.-M., du Montcel, S. T., Brice, A., Golmard, J. L. and Dürr, A.
"In future therapeutic trials no patient stratification is globally required."
Keywords: Friedreich's ataxia, SARA, clinical rating scale, disease progression
Marelli, C., Figoni, J., Charles, P., Anheim, M., Tchikviladze, M., Vincitorio, C.-M., du Montcel, S. T., Brice, A., Golmard, J. L. and Dürr, A.
"In future therapeutic trials no patient stratification is globally required."
Keywords: Friedreich's ataxia, SARA, clinical rating scale, disease progression
Thursday, November 10, 2011
MR spectroscopy and atrophy in Gluten, Friedreich’s and SCA6 ataxias
Acta Neurologica Scandinavica, Article first published online: 10 NOV 2011 | DOI: 10.1111/j.1600-0404.2011.01620.x
M. Hadjivassiliou, L. I. Wallis, N. Hoggard, R. A. Grünewald, P. D. Griffiths and I. D. Wilkinson
Keywords: movement disorders; neuroimaging; SCA6; gluten ataxia; Friedreich’s ataxia; MR spectroscopy
M. Hadjivassiliou, L. I. Wallis, N. Hoggard, R. A. Grünewald, P. D. Griffiths and I. D. Wilkinson
Keywords: movement disorders; neuroimaging; SCA6; gluten ataxia; Friedreich’s ataxia; MR spectroscopy
Wednesday, November 9, 2011
Initial Experience in the Treatment of Inherited Mitochondrial Disease with EPI-743
Molecular Genetics and Metabolism, In Press, Accepted Manuscript, doi:10.1016/j.ymgme.2011.10.009
Gregory M. Enns a, Stephen L. Kinsman b, Susan L. Perlman c, Kenneth M. Spicer d, Jose E. Abdenur e, Bruce H. Cohen f, Akiko Amagata g, Adam Barnes g, Viktoria Kheifets g, William D. Shrader g, Martin Thoolen g, Francis Blankenberg h, Guy Miller g i.
a Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA 94305–5208, USA
b Division of Neurosciences, Medical University of South Carolina, Charleston, SC 29425, USA
c Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
d Department of Radiology and Radiological Science, Medical University of South Carolina, Charleston, SC 29425, USA
e Department of Pediatrics, Division of Metabolic Disorders, CHOC Children's Hospital, Orange County, CA 92868, USA
f Department of Neurology, NeuroDevelopmental Science Center, Akron Children's Hospital, Akron, OH 44308, USA
g Edison Pharmaceuticals, 350 North Bernardo Avenue, Mountain View, CA 94043, USA
h Department of Radiology, Division of Pediatric Radiology, Lucile Packard Children's Hospital, Stanford, CA 94305, USA
i Adjunct Clinical Instructor, Department of Anesthesiology, Critical Care Medicine, Stanford University, Stanford, CA 94305, USA
"Data obtained herein suggest that EPI-743 may represent a new drug for the treatment of inherited mitochondrial respiratory chain disorders"
KEYWORDS: Mitochondrial disease; α-tocotrienol quinone; Leigh syndrome; polymerase γ deficiency; MELAS; mitochondrial DNA deletion syndrome, Friedreich ataxia,
Gregory M. Enns a, Stephen L. Kinsman b, Susan L. Perlman c, Kenneth M. Spicer d, Jose E. Abdenur e, Bruce H. Cohen f, Akiko Amagata g, Adam Barnes g, Viktoria Kheifets g, William D. Shrader g, Martin Thoolen g, Francis Blankenberg h, Guy Miller g i.
a Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA 94305–5208, USA
b Division of Neurosciences, Medical University of South Carolina, Charleston, SC 29425, USA
c Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
d Department of Radiology and Radiological Science, Medical University of South Carolina, Charleston, SC 29425, USA
e Department of Pediatrics, Division of Metabolic Disorders, CHOC Children's Hospital, Orange County, CA 92868, USA
f Department of Neurology, NeuroDevelopmental Science Center, Akron Children's Hospital, Akron, OH 44308, USA
g Edison Pharmaceuticals, 350 North Bernardo Avenue, Mountain View, CA 94043, USA
h Department of Radiology, Division of Pediatric Radiology, Lucile Packard Children's Hospital, Stanford, CA 94305, USA
i Adjunct Clinical Instructor, Department of Anesthesiology, Critical Care Medicine, Stanford University, Stanford, CA 94305, USA
"Data obtained herein suggest that EPI-743 may represent a new drug for the treatment of inherited mitochondrial respiratory chain disorders"
KEYWORDS: Mitochondrial disease; α-tocotrienol quinone; Leigh syndrome; polymerase γ deficiency; MELAS; mitochondrial DNA deletion syndrome, Friedreich ataxia,
Pathophysiology of Friedreich's Ataxia Includes Alterations of Thiol Antioxidants, and Screening Based On This Principle Identifies Small Molecule Drugs With Antioxidant and Frataxin Induction Mechanisms
Free Radical Biology and Medicine, Volume 51, Supplement, 1 November 2011, Pages S85
SFRBM's 18th Annual Meeting: Program and abstracts. doi:10.1016/j.freeradbiomed.2011.10.395
Gino Cortopassi, Robert Schoenfeld, Yuxi Shan, Sunil Sahdeo
University of California, Davis
No abstrac
You can find a similar paper of the same authors in the Strasbourg FARA conference summary.
http://www.curefa.org/_pdf/4thInternationalFAConferenceAbstracts.pdf
SFRBM's 18th Annual Meeting: Program and abstracts. doi:10.1016/j.freeradbiomed.2011.10.395
Gino Cortopassi, Robert Schoenfeld, Yuxi Shan, Sunil Sahdeo
University of California, Davis
No abstrac
You can find a similar paper of the same authors in the Strasbourg FARA conference summary.
http://www.curefa.org/_pdf/4thInternationalFAConferenceAbstracts.pdf
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