Effects of the glucagon-like polypeptide-1 analogue (Val8)GLP-1 on learning, progenitor cell proliferation and neurogenesis in the C57B/16 mouse brain

Effects of the glucagon-like polypeptide-1 analogue (Val8)GLP-1 on learning, progenitor cell proliferation and neurogenesis in the C57B/16 mouse brain. Stephen F.J. McGovern, Kerry Hunter, Christian Hölscher, Brain Research, Volume 1473, 14 September 2012, Pages 204-213. http://dx.doi.org/10.1016/j.brainres.2012.07.029.

Keywords: Insulin, Incretin, Neurodegenerative disease, Alzheimer's disease, Cognition, Diabetes, Neurogenesis.

The results demonstrate that (Val8)GLP-1 is safe in a range of doses, crosses the BBB and has potentially beneficial effects in the CNS by enhancing neurogenesis.


Fármaco antidiabético contra las enfermedades neurodegenerativas

An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia

An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia.

The purpose of this study is to document the clinical effects of bupropion and citalopram in a single subject with Friedreich Ataxia.(Phase 4)

ClinicalTrials.gov
Identifier: NCT01716221
First received: October 25, 2012

Sponsor: University of Colorado, Denver
Information provided by (Responsible Party): University of Colorado, Denver

Microsatellites as targets of natural selection.

Microsatellites as targets of natural selection. Haasl RJ, Payseur BA.; Mol Biol Evol. 2012 Oct 27.

Keywords: polymorphism, natural selection, mutation, multiallelic loci, microsatellites, microsatellite mutation, Friedreich's ataxia.

Lesser Toe Deformities – Pathogenesis and Practice-Oriented Nomenclature

Lesser Toe Deformities – Pathogenesis and Practice-Oriented Nomenclature. Deformitäten der Kleinzehen – Pathogenese und praxisnahe Nomenklatur. Veronika Redkina, Alexander Sikorski, Johannes Beike; Fuß & Sprunggelenk, Available online 29 October 2012. http://dx.doi.org/10.1016/j.fuspru.2012.10.001

Published in German

Characterising the Neuropathology and Neurobehavioural Phenotype in Friedreich Ataxia: A Systematic Review

Characterising the Neuropathology and Neurobehavioural Phenotype in Friedreich Ataxia: A Systematic Review. Louise A. Corben, Nellie Georgiou‑Karistianis, John L. Bradshaw, Marguerite V. Evans‑Galea, Andrew J. Churchyard and Martin B. Delatycki;
From the book Tandem Repeat Polymorphisms: Genetic Plasticity, Neural Diversity and Disease, Edited by: Anthony J. Hannan, ISBN: 978-1-4614-5433-5, Publication date: October 26, 2012

Neuroanatomical Correlates of Depression in Friedreich's Ataxia: a Voxel-Based Morphometry Study.

Neuroanatomical Correlates of Depression in Friedreich's Ataxia: a Voxel-Based Morphometry Study. da Silva CB, Yasuda CL, D'Abreu A, Cendes F, Lopes-Cendes I, França MC Jr.; Cerebellum. 2012 Oct 24.

Keywords: Affective disorders, neurodegenerative diseases, poor quality of life, depression, Beck Depression Inventory, cerebral 3 T MRI scans, structural abnormalities, white matter, reduction of gray matter volumes.

Letter by Peverill Regarding Article, “The Heart in Friedreich Ataxia: Definition of Cardiomyopathy, Disease Severity, and Correlation With Neurological Symptoms”

Letter by Peverill Regarding Article, “The Heart in Friedreich Ataxia: Definition of Cardiomyopathy, Disease Severity, and Correlation With Neurological Symptoms” , Roger E. Peverill, MB, BS, PhD; Circulation. 2012; 126: e272 doi: 10.1161/CIRCULATIONAHA.112.115287

Keywords: Friedreich ataxia (FA), cardiac disease, premature mortality, cardiomyopathy in FA, left ventricular (LV) mass, interventricular septal thickness.

R- and S-Equol have equivalent cytoprotective effects in Friedreich's Ataxia

R- and S-Equol have equivalent cytoprotective effects in Friedreich's Ataxia, Timothy E Richardson and James W Simpkins, BMC Pharmacology and Toxicology 2012, doi:10.1186/2050-6511-13-12. Published: 22 October 2012

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These preliminary data demonstrate that estrogen and soy-derived equols could have a beneficial effect in delaying the onset and decreasing the severity of symptoms in FRDA patients by an antioxidant mechanism. In addition, these data confirm that the protection seen previously with E2 was indeed unrelated to ER binding.

Novel Therapeutic Challenges in Cerebellar Diseases

Novel Therapeutic Challenges in Cerebellar Diseases. Antoni Matilla Dueñas, Carme Serrano, Yerko Ivanovic, Ramiro Alvarez, Pilar Latorre, and David Genıs. Documentos RIBERMOV (19/10/2012)

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New Project: Developing bone marrow transplant and novel therapeutic vectors to treat Friedreich ataxia

New Project: Developing bone marrow transplant and novel therapeutic vectors to treat Friedreich ataxia.  Professor Martin Delatycki.  Federal Government's National Health and Medical Research Council (NHMRC) funding (Australia).

Chemical and technological delivery systems for idebenone: a review of literature production

Chemical and technological delivery systems for idebenone: a review of literature production. Claudia Carbone, Rosario Pignatello, Teresa Musumeci, and Giovanni Puglisi; Expert Opinion on Drug Delivery, November 2012, Vol. 9, No. 11 : Pages 1377-1392. doi: 10.1517/17425247.2012.724396.

Keywords: antioxidant activity, cyclodextrins, drug delivery systems, lipoamino acids, liposomes, microemulsions, nanoparticles, prodrugs, SLN, solid lipid nanoparticles, Idebenone (IDE).

Reply to Beconi et al.: Oral Administration of the Pimelic Diphenylamide HDAC Inhibitor HDACi 4b Is Unsuitable for Chronic Inhibition of HDAC Activity in the CNS In Vivo

Reply to Beconi et al.: Oral Administration of the Pimelic Diphenylamide HDAC Inhibitor HDACi 4b Is Unsuitable for Chronic Inhibition of HDAC Activity in the CNS In Vivo. Joel M. Gottesfeld and Elizabeth A. Thomas. PLoS ONE 7(9): e44498. doi:10.1371/journal.pone.0044498 Comment posted by joelg on 19 Oct 2012 at 18:39 GMT

Consumers Angry That Genetics Testing Company Has Used Their Data to Obtain a Patent

Consumers Angry That Genetics Testing Company Has Used Their Data to Obtain a Patent. Biotechnology Law Report. October 2012, 31(5): 473-473, doi:10.1089/blr.2012.9711.

Novel Frataxin Isoforms May Contribute to the Pathological Mechanism of Friedreich Ataxia

Novel Frataxin Isoforms May Contribute to the Pathological Mechanism of Friedreich Ataxia. Haiyan Xia1, Yun Cao, Xiaoman Dai, Zvonimir Marelja, Di Zhou, Ran Mo, Sahar Al-Mahdawi, Mark A. Pook, Silke Leimkühler, Tracey A. Rouault, Kuanyu Li; PLoS ONE 7(10): e47847. doi:10.1371/journal.pone.0047847

"Findings highly relevant to understanding the mechanism of tissue-specific pathology in FRDA."

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Molecular mechanisms underlying pathology of Friedreich ataxia and Fragile X syndrome

PhD Research Project: Molecular mechanisms underlying pathology of Friedreich ataxia and Fragile X syndrome. Dr N Gromak, Sir William Dunn School of Pathology, University of Oxford. Application Deadline: 04 January 2013.

Keywords: expanded repeat sequences, Friedreich ataxia, Fragile X syndrome, frataxin (FXN) gene, transcriptional defect, transcriptional silencing.

When secondary comes first – the importance of non-canonical DNA structures

When secondary comes first – the importance of non-canonical DNA structures. Natalie Saini, Yu Zhang, Karen Usdin, Kirill S. Lobachev; Biochimie, Available online 16 October 2012.

Keywords: Triplex, G-quartet, hairpin, cruciform, Holliday junction, RNA:DNA hybrid, replication transcription collision, evolution, polymorphisms and diseases.

DIAGNOSIS AND TREATMENT OF FRIEDREICH'S ATAXIA

DIAGNOSIS AND TREATMENT OF FRIEDREICH'S ATAXIA. Source: Patent #WO2012138289 (BERGQUIST, HELEN,; GOOD, LIAM; ZAIN-LUQMAN, RULA,; ZAIN-LUQMAN RULA; BERGQUIST HELEN; GOOD LIAM), 2012-10-11

Keywords: oligonucleotides, peptide nucleic acid oligonucleotide, triplex-helix DNA structures, Friedreich's ataxia.

Potential therapeutic applications of differentiated induced pluripotent stem cells (iPSCs) in the treatment of neurodegenerative diseases

Potential therapeutic applications of differentiated induced pluripotent stem cells (iPSCs) in the treatment of neurodegenerative diseases; Aijing Gao, Yuhua Peng, Yulin Deng, Hong Qing. Neuroscience, Available online 13 October 2012

Keywords: Induced pluripotent stem cells (iPSCs), Neurodegerative diseases, Cell therapy, Reprogramming factors, Differentiation, Immunogenicity.

Although iPSCs technology is in its infancy and faces many obstacles, it has great potential in helping to identify therapeutic targets for treating neurodegenerative diseases.

Pms2 Suppresses Large Expansions of the (GAA·TTC)n Sequence in Neuronal Tissues

Pms2 Suppresses Large Expansions of the (GAA·TTC)n Sequence in Neuronal Tissues,Bourn RL, De Biase I, Pinto RM, Sandi C, Al-Mahdawi S, et al. (2012), PLoS ONE 7(10): e47085. doi:10.1371/journal.pone.0047085

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"It is tempting to speculate that Pms2 may serve as a genetic modifier of the disease phenotype in Friedreich ataxia."

Neurodegeneration as an RNA Disorder

Neurodegeneration as an RNA Disorder; Rory Johnson, Wendy Noble, Gian Gaetano Tartaglia, Noel J. Buckley; Progress in Neurobiology, Available online 10 October 2012

Keywords Neurodegeneration, neurodegenerative disease, non-coding RNA, Alzheimer's disease, Parkinson's disease, Huntington's disease, trinucleotide repeat disorder, BACE1, REST, long non-coding RNA, microRNA, HAR1, SOX2OT, mir-9, mir-132, mir-124.

Dysregulation of Glutathione Homeostasis in Neurodegenerative Diseases

Dysregulation of Glutathione Homeostasis in Neurodegenerative Diseases; Johnson, William M.; Wilson-Delfosse, Amy L.; Mieyal, John. J.; Nutrients. 2012; 4(10):1399-1440.

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Keywords: glutathione; N-acetylcysteine; oxidative stress; redox signaling; neurodegenerative diseases; Friedreich's Ataxia; apoptosis; protein aggregation; glutathionylation; nitrosylation


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Caracterización epidemiológica, molecular y clínica de la ataxia de Friedreich en Cuba

Caracterización epidemiológica, molecular y clínica de la ataxia de Friedreich en Cuba. Cruz Mariño, Tania (2012). Tesis presentada en opción al grado científico de Doctor en ciencias médicas. Universidad de ciencias médicas de La Habana.

Palabras clave: Ataxia de Friedreich; Ataxias hereditarias; Epidemiología; Diagnóstico; Clínica; Análisis Molecular; Estudio Descriptivo Transversal; Gen de Ataxia de Friedreih; Cuba

PDF Available under License Reconocimiento-No comercial-Sin obras derivadas.

Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons

Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons; Carolina Franco, Silvia Fernandez and Ignacio Torres Aleman; Molecular Neurodegeneration 2012, 7:51 doi:10.1186/1750-1326-7-51 Published: 5 October 2012

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KEYWORDS: Friedreich s ataxia (FRDA), frataxin (Fxn), insulin-like growth factor I (IGF-I), neurons, astrocytes, Akt/mTOR signaling pathway.

Auditory pathway changes mirror overall disease progress in individuals with Friedreich ataxia

Auditory pathway changes mirror overall disease progress in individuals with Friedreich ataxia.
Gary Rance, Louise A. Corben and Martin B. Delatycki; Journal of Neurology 2012, DOI: 10.1007/s00415-012-6679-z.

Kidney infarction in Friedreich's ataxia with dilated cardiomyopathy

Kidney infarction in Friedreich's ataxia with dilated cardiomyopathy ; Dimitrios Stergios Evangelopoulos, Tatiana Nataly Pirvu, Aristomenis Exadaktylos, Sandro Kohl; BMJ Case Reports published online 3 October 2012, doi:10.1136/bcr-2012-006550

Keywords: Friedreich's ataxia, inflammatory parameters, elevated troponin, B-type natriuretic peptide, proteinuria, thromboembolic kidney infarction, lifelong oral anticoagulation.

Dilated cardiomyopathy in Friedreich’s ataxia: point of no return

Dilated cardiomyopathy in Friedreich’s ataxia: point of no return; Cardiopatía dilatada en ataxia de Friedreich: el punto sin retorno; Luis E. Silva, MD., Leidy P. Prada, MD., Hugo Páez, MD., Andrés F. Buitrago, MD., Carlos Franco, MD., Robinson Sánchez, MD., Iván Rendón, MD.; Rev Colomb Cardiol 2012; 19: 100-104.

Language Spanish

KEYWORDS: Friedreich’s ataxia, infi ltrative heart disease, dilated cardiomyopathy, idebenone.

PALABRAS CLAVE: ataxia de Friedreich, cardiopatías infi ltrativas, cardiomiopatía dilatada, idebenona.

Endgame: Glybera Finally Recommended for Approval as the First Gene Therapy Drug in the European Union

Endgame: Glybera Finally Recommended for Approval as the First Gene Therapy Drug in the European Union; Seppo Ylä-Herttuala. Molecular Therapy (2012); 20 10, 1831–1832. doi:10.1038/mt.2012.194

Editorial-full text

Despite these problems and difficulties, the final opinion in favor of Glybera is encouraging news for the gene and cell therapy communities, and hopefully evaluation of the twists and turns of the plot of this saga will help to streamline the regulatory processes of other gene and cell therapy products so that this new area of medicine can eventually fulfill its promise in human medicine