Hong Yong Peh, W.S. Daniel Tan, Wupeng Liao, W.S. Fred Wong, Pharmacology & Therapeutics, Available online 17 December 2015, ISSN 0163-7258, doi:10.1016/j.pharmthera.2015.12.003.
Modifications to tocotrienols were performed as well: Vatiquinone (EPI-743), structurally similar to α-tocotrienol metabolite α-tocotrienol quinone, was developed for the treatment of Leigh syndrome and other inherited mitochondrial diseases by Edison Pharmaceuticals Inc. Currently, EPI-743 was approved by FDA (United States of America Food and Drug Administration) in July 2014 for the treatment of Leigh syndrome and an ongoing Phase-IIb clinical trial for Friedreich’s ataxia
Saturday, December 19, 2015
Thursday, December 17, 2015
[Memantine for optic nerve atrophy in Friedreich's Ataxia]- Memantin bei Optikusatrophie in Friedreich-Ataxie
S. Peter , K. Manousaridis, S. Boesch, S. Mennel; Der Ophthalmologe pp 1-4, [Article in German] DOI 10.1007/s00347-015-0191-7
Despite the limitations of this single and time limited case observational study, memantine should be discussed as an option for treatment of acute optic nerve atrophy in Friedreich’s ataxia.
Despite the limitations of this single and time limited case observational study, memantine should be discussed as an option for treatment of acute optic nerve atrophy in Friedreich’s ataxia.
Wednesday, December 16, 2015
Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin
Joseph F. Nabhan, Renea L. Gooch, Eugene L. Piatnitski Chekler, Betsy Pierce & Christine E. Bulawa; (Nature) Scientific Reports 5, Article number: 18251 (2015) doi:10.1038/srep18251
OPEN
Interestingly, a number of treatments caused a change in total amount of FXN protein, without an effect on mature FXN. Our results imply that regulation of FXN protein levels is complex and that total amounts can be modulated chemically and genetically without altering the absolute amount of mature FXN protein.
OPEN
Interestingly, a number of treatments caused a change in total amount of FXN protein, without an effect on mature FXN. Our results imply that regulation of FXN protein levels is complex and that total amounts can be modulated chemically and genetically without altering the absolute amount of mature FXN protein.
Tuesday, December 15, 2015
Eye movements in neurodegenerative diseases.
MacAskill, Michael R.; Anderson, Tim J.; Current Opinion in Neurology, Published Ahead-of-Print. December 4, 2015 doi: 10.1097/WCO.0000000000000274
Monday, December 14, 2015
Epigenetic Biomarkers and Diagnostics
Edited by: José Luis García-Giménez (Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain; Medicine and Dentistry School; Biomedical Research Institute INCLIVA, University of Valencia, Spain). Academic Press, Boston, 2016, doi:10.1016/B978-0-12-801899-6.01001-9, Available online 8 December 2015
Chapter 3 - Epigenetic Mechanisms as Key Regulators in Disease: Clinical Implications, Abdelhalim Boukaba, Fabian Sanchis-Gomar and José Luis García-Giménez, doi:10.1016/B978-0-12-801899-6.00003-6
Alterations in the epigenetic machineries deregulate different epigenetic substrates, which in turn might be implemented as clinical epigenetic biomarkers for diagnosis, prognosis, and monitoring a wide variety of pathological conditions.
Chapter 20 – DNA Methylation in Neurodegenerative Diseases, Sahar Al-Mahdawi, Sara Anjomani Virmouni and Mark A. Pook, Pages doi:10.1016/B978-0-12-801899-6.00020-6.
This review focuses on our current understanding of the role of DNA methylation and its potential as a biomarker in neurodegenerative diseases, including Alzheimer’s disease, Parkinson’s disease, amyotrophic lateral sclerosis, Huntington’s disease, fragile X-associated tremor/ataxia syndrome, Friedreich ataxia, and spinocerebellar ataxia type 7
Chapter 21 - The Histone Code and Disease: Posttranslational Modifications as Potential Prognostic Factors for Clinical Diagnosis, Nicolas G. Simonet, George Rasti and Alejandro Vaquero, 417-445, doi:10.1016/B978-0-12-801899-6.00021-8.
In this chapter, we summarize the current knowledge on the implications of histone PTMs in diverse human pathologies. We focus on the identified changes in histone modifications and associated enzymes in human diseases, as well as on their potential role in clinical diagnosis.
Chapter 3 - Epigenetic Mechanisms as Key Regulators in Disease: Clinical Implications, Abdelhalim Boukaba, Fabian Sanchis-Gomar and José Luis García-Giménez, doi:10.1016/B978-0-12-801899-6.00003-6
Alterations in the epigenetic machineries deregulate different epigenetic substrates, which in turn might be implemented as clinical epigenetic biomarkers for diagnosis, prognosis, and monitoring a wide variety of pathological conditions.
Chapter 20 – DNA Methylation in Neurodegenerative Diseases, Sahar Al-Mahdawi, Sara Anjomani Virmouni and Mark A. Pook, Pages doi:10.1016/B978-0-12-801899-6.00020-6.
This review focuses on our current understanding of the role of DNA methylation and its potential as a biomarker in neurodegenerative diseases, including Alzheimer’s disease, Parkinson’s disease, amyotrophic lateral sclerosis, Huntington’s disease, fragile X-associated tremor/ataxia syndrome, Friedreich ataxia, and spinocerebellar ataxia type 7
Chapter 21 - The Histone Code and Disease: Posttranslational Modifications as Potential Prognostic Factors for Clinical Diagnosis, Nicolas G. Simonet, George Rasti and Alejandro Vaquero, 417-445, doi:10.1016/B978-0-12-801899-6.00021-8.
In this chapter, we summarize the current knowledge on the implications of histone PTMs in diverse human pathologies. We focus on the identified changes in histone modifications and associated enzymes in human diseases, as well as on their potential role in clinical diagnosis.
Sunday, December 13, 2015
Disease-Associated Repeat Instability and Mismatch Repair
Monika H.M. Schmidt, Christopher E. Pearson, DNA Repair, Available online 12 December 2015, ISSN 1568-7864, doi: 10.1016/j.dnarep.2015.11.008.
The formation of other unusual DNA and R-loop structures is proposed to play a key role in MMR-mediated instability. A complex correlation is emerging between tissues showing varying amounts of repeat instability and MMR expression levels. Notably, naturally occurring polymorphic variants of DNA repair genes can have dramatic effects upon the levels of repeat instability, which may explain the variation in disease age-of-onset, progression and severity. An increasing grasp of these factors holds prognostic and therapeutic potential.
The formation of other unusual DNA and R-loop structures is proposed to play a key role in MMR-mediated instability. A complex correlation is emerging between tissues showing varying amounts of repeat instability and MMR expression levels. Notably, naturally occurring polymorphic variants of DNA repair genes can have dramatic effects upon the levels of repeat instability, which may explain the variation in disease age-of-onset, progression and severity. An increasing grasp of these factors holds prognostic and therapeutic potential.
Friday, December 11, 2015
Pharmacology and Clinical Drug Candidates in Redox Medicine
V. Thao-Vi Dao, Ana I. Casas, Ghassan J. Maghzal, Tamara Seredenina, Nina Kaludercic, Natalia Robledinos-Anton, Fabio Di Lisa, Roland Stocker, Pietro Ghezzi, Vincent Jaquet, Antonio Cuadrado and Harald H.H.W. Schmidt; Antioxid Redox Signal. 2015 November 10; 23(14): 1113–1129. doi: 10.1089/ars.2015.6430
OPEN ACCESS
Other lines of research have focused on targeting NRF2 in degenerative diseases where low-grade chronic inflammation is present. One very potent synthetic triterpenoid, CDDO-methyl ester, bardoxolone methyl, has been studied in great detail for treatment of diabetic nephropathy. The initial excitement about this compound was set back by a small yet significant increase in the risk of heart failure. Importantly though, this effect appears not to be related to NRF2 targeting, but rather to alteration of endothelin signaling, leading to reduction in urine volume and sodium excretion in some patients with advanced chronic kidney disease. Bardoxolone methyl is now being studied in new indications for pulmonary arterial hypertension, melanoma, and Friedreich's ataxia.
OPEN ACCESS
Other lines of research have focused on targeting NRF2 in degenerative diseases where low-grade chronic inflammation is present. One very potent synthetic triterpenoid, CDDO-methyl ester, bardoxolone methyl, has been studied in great detail for treatment of diabetic nephropathy. The initial excitement about this compound was set back by a small yet significant increase in the risk of heart failure. Importantly though, this effect appears not to be related to NRF2 targeting, but rather to alteration of endothelin signaling, leading to reduction in urine volume and sodium excretion in some patients with advanced chronic kidney disease. Bardoxolone methyl is now being studied in new indications for pulmonary arterial hypertension, melanoma, and Friedreich's ataxia.
Thursday, December 10, 2015
Regulating biobanking with children’s tissue: a legal analysis and the experts’ view
Elcke J Kranendonk, M Corrette Ploem and Raoul C M Hennekam; European Journal of Human Genetics (2016) 24, 30–36; doi:10.1038/ejhg.2015.59; published online 15 April 2015
The results of this analysis show that experts have no clear consensus about the appropriate rules for storage of and research with children’s material in biobanks. Development of a framework that provides a fair balance between fundamental paediatric research and privacy protection is necessary.
The results of this analysis show that experts have no clear consensus about the appropriate rules for storage of and research with children’s material in biobanks. Development of a framework that provides a fair balance between fundamental paediatric research and privacy protection is necessary.
Wednesday, December 9, 2015
Antioxidants in Translational Medicine.
Harald H.H.W. Schmidt, Roland Stocker, Claudia Vollbracht, Gøran Paulsen, Dennis Riley, Andreas Daiber and Antonio Cuadrado; Antioxid Redox Signal. 2015 November 10; 23(14): 1130–1143.
doi: 10.1089/ars.2015.6393
OPEN ACCESS
doi: 10.1089/ars.2015.6393
OPEN ACCESS
Tuesday, December 8, 2015
Friedreich Ataxia (Chapter 13)
Mary Kay Koenig, Chapter 13 - In Mitochondrial Case Studies, edited by Russell P. SanetoSumit ParikhBruce H. Cohen, Academic Press, Boston, 2016, Pages 103-112, ISBN 9780128008775, doi:10.1016/B978-0-12-800877-5.00013-9.
Diagnostic considerations, clinical presentation, pathophysiology, and treatment options are discussed.
Diagnostic considerations, clinical presentation, pathophysiology, and treatment options are discussed.
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