Towards Understanding RNA-Mediated Neurological Disorders

Towards Understanding RNA-Mediated Neurological Disorders. Ranhui Duan, Sumeet Sharma, Qiuping Xia, Kathryn Garber, Peng Jin; Journal of Genetics and Genomics, Available online 23 August 2014, ISSN 1673-8527, http://dx.doi.org/10.1016/j.jgg.2014.08.003.

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R loops are enriched over FXN intron 1 in cells with Friedreich ataxia-associated repeat expansions, compared to control cells. The formation of R loops precedes the presence of heterochromatin marks but correlates with epigenetic silencing of FXN and FMR1 and may be involved in the recruitment of enzymes involved in heterochromatinization.

Cerebellar pathology in Friedreich’s ataxia: Atrophied dentate nuclei with normal iron content

Cerebellar pathology in Friedreich’s ataxia: Atrophied dentate nuclei with normal iron content; K. Solbach, O. Kraff, M. Minnerop, A. Beck, L. Schöls, E.R. Gizewski, M.E. Ladd, D. Timmann; NeuroImage: Clinical, Available online 23 August 2014, ISSN 2213-1582, http://dx.doi.org/10.1016/j.nicl.2014.08.018.

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Applying in vivo MRI methods we could demonstrate significant atrophy of the DN in the presence of normal iron content. The findings suggest that relaxation rates are not reliable biomarkers in clinical trials evaluating the potential effect of FA therapy.

Reaching tasks in an altered dynamic environment: Motor adaptation in FRDA patients

Reaching tasks in an altered dynamic environment: Motor adaptation in FRDA patients. (SIAMOC 2013 abstracts) M. Germanotta, M. Petrarca, S. Rossi, S. Carniel, E. Castelli, P. Cappa; Gait & Posture, Volume 40, Supplement 1, August 2014, Page S1, ISSN 0966-6362, http://dx.doi.org/10.1016/j.gaitpost.2014.05.018.

p53 directly regulates the transcription of the human frataxin gene and its lack of regulation in tumor cells decreases the utilization of mitochondrial iron

p53 directly regulates the transcription of the human frataxin gene and its lack of regulation in tumor cells decreases the utilization of mitochondrial iron. Rina Shimizu, Nguyen Ngoc Lan, Tran Tien Tai, Yuka Adachi, Asako Kawazoe, Anfeng Mu, Shigeru Taketani; Gene, Available online 23 August 2014, ISSN 0378-1119, http://dx.doi.org/10.1016/j.gene.2014.08.043.

Keywords: Frataxin; p53; Transcription; Heme biosynthesis; ALA; Cancerous cells