Matthew M. Zipse, Ryan G. Aleong, Cardiac Electrophysiology Clinics, Available online 13 January 2016, ISSN 1877-9182, doi: 10.1016/j.ccep.2015.10.016.
This extreme example of atrial fibrosis emphasizes the need to address non-PV substrate, even if AF has only been paroxysmal, in some patients undergoing catheter ablation of AF.
Saturday, January 16, 2016
Friday, January 15, 2016
Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes
Alberto R. M. Martinez, Adriana Moro, Agessandro Abrahao, Ingrid Faber, Conrado R. Borges, Thiago J. R. Rezende, Carlos R. MartinsJr, Mariana Moscovich, Renato P. Munhoz, Sandra Leistner Segal, Walter O. Arruda, Maria Luiza Saraiva-Pereira, Simone Karuta, José Luiz Pedroso, Anelyssa D’Abreu, Laura B. Jardim, Íscia Lopes-Cendes, Orlando G. Barsottini, Hélio A. G. Teive, Marcondes C. França Jr; Cerebellum. 2016 Jan 11. [Epub ahead of print] DOI:10.1007/s12311-015-0755-8
"LOFA" contradicts several of the classical clinical features of FDRA by this reaon is an important diagnostic challenge for general neurologists
Some interesting data on prevalence: In this study LOFA cases accounted for 17 % of the FDRA patients (Brasil). Other studies found 17 % of LOFA prevalence, and in other the prevalence of LOFA patients ranged from 13.5 to 25%.
"LOFA" contradicts several of the classical clinical features of FDRA by this reaon is an important diagnostic challenge for general neurologists
Some interesting data on prevalence: In this study LOFA cases accounted for 17 % of the FDRA patients (Brasil). Other studies found 17 % of LOFA prevalence, and in other the prevalence of LOFA patients ranged from 13.5 to 25%.
Thursday, January 14, 2016
Friedreich Ataxia and nephrotic syndrome: a series of two patients
Julianna E. Shinnick, Charles J. Isaacs, Sharon Vivaldi, Kimberly Schadt and David R. Lynch. BMC Neurology201616:3 DOI: 10.1186/s12883-016-0526-2
OPEN
OPEN
Wednesday, January 13, 2016
Jupiter Orphan Therapeutics, Inc. Enters into a Global Licensing Agreement with Murdoch Childrens Research Institute
Jupiter, FL (PRWEB) January 12, 2016
Jupiter Orphan Therapeutics, Inc. (JOT) today announced that they have entered into a global development and license agreement with Murdoch Childrens Research Institute, Australia’s largest child health research institute. The agreement will see the parties jointly develop an appropriate delivery system and conduct clinical trials with the purpose of getting a product approved for the treatment of Friedreich’s Ataxia. The product, JOT101, will be a novel proprietary formulation developed by JOT utilising the active ingredient of resveratrol.
Jupiter Orphan Therapeutics, Inc. (JOT) today announced that they have entered into a global development and license agreement with Murdoch Childrens Research Institute, Australia’s largest child health research institute. The agreement will see the parties jointly develop an appropriate delivery system and conduct clinical trials with the purpose of getting a product approved for the treatment of Friedreich’s Ataxia. The product, JOT101, will be a novel proprietary formulation developed by JOT utilising the active ingredient of resveratrol.
Indy drug firm Chondrial scores multi-million-dollar help from NIH Indy drug firm scores multi-million-dollar help from NIH
Indianapolis Business Journal, J.K. Wall, January 13, 2016
Chondrial, which is developing a drug for a rare condition known as Friedreich’s ataxia, will announce Wednesday that it has been accepted into a program run by the National Institutes of Health in which the NIH’s own researchers conduct tests on Chondrial’s drug and pay for outside contractors as needed.
Chondrial’s goal is to apply with the U.S. Food and Drug Administration as early April to get approval for human testing of its drug.
Chondrial, which is developing a drug for a rare condition known as Friedreich’s ataxia, will announce Wednesday that it has been accepted into a program run by the National Institutes of Health in which the NIH’s own researchers conduct tests on Chondrial’s drug and pay for outside contractors as needed.
Chondrial’s goal is to apply with the U.S. Food and Drug Administration as early April to get approval for human testing of its drug.
Saturday, January 9, 2016
Post-translational modifications in neurodegeneration
Alessandro Didonna, Federico Benetti. AIMS Biophysics, 2016, 3(1): 27-49. doi: 10.3934/biophy.2016.1.27
OPEN ACCESS
A example is Friedreich ataxia, the expanded repeat induces gene silencing through a process of heterochromatinization partially mediated by hypo-acetylation of specific lysine residues on histones around the trinucleotide repeats and on the promoter.
Acetylation is one of the most common PTMs and consists in the reversible transfer of an acetyl group from the acetyl-coenzyme A to the ɛ-amino group of the side chain of lysine residues. Two classes of enzymes catalyze this PTM: histone acetyl transferases (HATs) and histone de-acetylases (HDACs).
OPEN ACCESS
A example is Friedreich ataxia, the expanded repeat induces gene silencing through a process of heterochromatinization partially mediated by hypo-acetylation of specific lysine residues on histones around the trinucleotide repeats and on the promoter.
Acetylation is one of the most common PTMs and consists in the reversible transfer of an acetyl group from the acetyl-coenzyme A to the ɛ-amino group of the side chain of lysine residues. Two classes of enzymes catalyze this PTM: histone acetyl transferases (HATs) and histone de-acetylases (HDACs).
Thursday, January 7, 2016
Epigenetics and Triplet-Repeat Neurological Diseases
Sathiji Nageshwaran and Richard Festenstein, (Review article) Front. Neurol., 21 December 2015 doi: 10.3389/fneur.2015.00262
OPEN
Triplet-Repeat Diseases and Epigenetics: Friedreich’s Ataxia, over 98% of cases are the result of a (GAA)n triplet-repeat expansion within intron 1 of the frataxin (FXN) gene, the rest being the result of compound heterozygosity with an expansion on one allele and a point mutation or insertion on the other........ There is no evidence that frataxin itself is dysfunctional in FRDA, with no defect in mRNA half-life or splicing between patients and unaffected individuals......
OPEN
Triplet-Repeat Diseases and Epigenetics: Friedreich’s Ataxia, over 98% of cases are the result of a (GAA)n triplet-repeat expansion within intron 1 of the frataxin (FXN) gene, the rest being the result of compound heterozygosity with an expansion on one allele and a point mutation or insertion on the other........ There is no evidence that frataxin itself is dysfunctional in FRDA, with no defect in mRNA half-life or splicing between patients and unaffected individuals......
Tuesday, January 5, 2016
Annapurna Therapeutics (formerly AAVLife SAS) to Collaborate with Weill Cornell Medicine on Gene-Therapy Portfolio
PARIS & NEW YORK--(BUSINESS WIRE)--Annapurna Therapeutics today announced a collaboration with Weill Cornell Medicine to build a market-leading gene-therapy company. January 05, 2016
Annapurna, formerly AAVLife SAS, will also continue to fully resource its earlier development of a gene therapy for cardiomyopathy associated with Friedreich’s ataxia. Annapurna is doing observational studies in Friedreich’s ataxia patients to determine appropriate measures for safety and efficacy trials.
Annapurna holds an exclusive worldwide license to a recently issued United States patent covering the use of an AAV vector in gene therapy for cardiomyopathy associated with Friedreich’s ataxia.
Annapurna, formerly AAVLife SAS, will also continue to fully resource its earlier development of a gene therapy for cardiomyopathy associated with Friedreich’s ataxia. Annapurna is doing observational studies in Friedreich’s ataxia patients to determine appropriate measures for safety and efficacy trials.
Annapurna holds an exclusive worldwide license to a recently issued United States patent covering the use of an AAV vector in gene therapy for cardiomyopathy associated with Friedreich’s ataxia.
Monday, January 4, 2016
Using stem cells to battle brain diseases
Esther B. E. Becker, Atlas of Science
Although scientific progress is being made, neurodegenerative diseases remain incurable. Research into these diseases has been hindered by the inaccessibility of the affected nerve cells in the human brain. However, the recent development of induced pluripotent stem cell (iPSC) technology in 2006 has revolutionized the way in which we can study brain disorders.
Of the small number of studies published to date, most have focused on Friedreich’s ataxia (the most common inherited ataxia).
With constant advances in our understanding of the use of chemicals to mimic embryonic differentiation pathways, it is only a matter of time before these models become a reality.
Publication: Induced pluripotent stem cell technology for modelling and therapy of cerebellar ataxia.Watson LM, Wong MM, Becker EB., Open Biol. 2015 Jul;5(7):150056. doi: 10.1098/rsob.150056.,
Although scientific progress is being made, neurodegenerative diseases remain incurable. Research into these diseases has been hindered by the inaccessibility of the affected nerve cells in the human brain. However, the recent development of induced pluripotent stem cell (iPSC) technology in 2006 has revolutionized the way in which we can study brain disorders.
Of the small number of studies published to date, most have focused on Friedreich’s ataxia (the most common inherited ataxia).
With constant advances in our understanding of the use of chemicals to mimic embryonic differentiation pathways, it is only a matter of time before these models become a reality.
Publication: Induced pluripotent stem cell technology for modelling and therapy of cerebellar ataxia.Watson LM, Wong MM, Becker EB., Open Biol. 2015 Jul;5(7):150056. doi: 10.1098/rsob.150056.,
Sunday, January 3, 2016
2,2′-dipyridyl induces pexophagy
Ai Lin Jin, Joon No Lee, Min Soo Kim, SeongAe Kwak, Se-Jin Kim, Kyung Song, Seong-Kyu Choe, Raekil Park, Biochemical and Biophysical Research Communications, Available online 23 December 2015, ISSN 0006-291X, doi:10.1016/j.bbrc.2015.12.098.
The strictly controlled metabolism of iron is essential, as deficiency or deregulation of iron-related molecules and proteins can cause severe health problems. Friedreich’s ataxia (FRDA) is a common inherited recessive ataxia. Frataxin deficiency causes dysfunction of iron metabolism in mitochondria. A recent report proposed that mitochondrial autophagy (mitophagy) is induced by mitochondrial stress resulting from a defect of iron metabolism-linked reduced frataxin expression.
The strictly controlled metabolism of iron is essential, as deficiency or deregulation of iron-related molecules and proteins can cause severe health problems. Friedreich’s ataxia (FRDA) is a common inherited recessive ataxia. Frataxin deficiency causes dysfunction of iron metabolism in mitochondria. A recent report proposed that mitochondrial autophagy (mitophagy) is induced by mitochondrial stress resulting from a defect of iron metabolism-linked reduced frataxin expression.
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