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

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