Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich’s Ataxia?

Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich’s Ataxia?. Dr. IMMA CASTALDO, Dr. Paola Vergara, Dr. Michele Pinelli, Prof. Alessandro Filla, Prof. Giuseppe De Michele, Prof. Sergio Cocozza, and Dr. Antonella Monticelli; Antioxidants & Redox Signaling. null, Vol. 0, No. ja

Keywords: oxidative stress, inflammation, telomere erosion, Friedreich's ataxia, frataxin expression, inflammatory genes, neuronal death, telomere shortening, biomarker.

Induced pluripotent stem cell derived neurons and cardiomyocytes as a model for mitochondrial defects in Friedreich's ataxia.

Induced pluripotent stem cell derived neurons and cardiomyocytes as a model for mitochondrial defects in Friedreich's ataxia. Hick A, Wattenhofer-Donzé M, Chintawar S, Tropel P, Simard JP, Vaucamps N, Gall D, Lambot L, André C, Reutenauer L, Rai M, Teletin M, Messaddeq N, Schiffmann SN, Viville S, Pearson CE, Pandolfo M, Puccio HM. Dis Model Mech. 2012 Nov 7.

Keywords: Friedreich's ataxia (FRDA), neurodegenerative disorder, hypertrophic cardiomyopathy, frataxin level, cellular models, induced pluripotent stem cells (iPSCs).

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Synthesis of TAT peptide-tagged PEGylated chitosan nanoparticles for siRNA delivery targeting neurodegenerative diseases

Synthesis of TAT peptide-tagged PEGylated chitosan nanoparticles for siRNA delivery targeting neurodegenerative diseases. Meenakshi Malhotra, Catherine Tomaro-Duchesneau, Satya Prakash. Biomaterials, Available online 7 November 2012. DOI: http://dx.doi.org/10.1016/j.biomaterials.2012.10.013.

Keywords: Chitosan, PEG, TAT, siRNA, Nanoparticles, Gene delivery, Neurodegenerative diseases.

Gene therapy: Glybera approved by European Commission

European Commission approves uniQure’s gene therapy, Glybera

The European CommissionA has given Glybera marketing authorisation in Europe for the first time, this treatment corrects errors in a person's genetic code

It's an important step that opens the door to this type of treatment in many genetically based Diseases. The race to reach gene therapy to patients has begun!!!!

European Commission Public health

Cells Lacking Pfh1, a Fission Yeast Homolog of Mammalian Frataxin, Display Constitutive Activation of the Iron Starvation Response

Cells Lacking Pfh1, a Fission Yeast Homolog of Mammalian Frataxin, Display Constitutive Activation of the Iron Starvation Response. Natalia Gabrielli, José Ayté and Elena Hidalgo. JBC, Journal of Bological Chemistry, First Published on October 31, 2012, doi: 10.1074/jbc.M112.421735 jbc.M112.421735.

Keywords: Friedreich ataxia, frataxin, iron homeostasis, oxidative stress, Fep1, Php4, Grx4, S. pombe

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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