UT GSBS Dissertations and Theses, 12/2011
Keywords: Epigenetics, Chromatin Structure, Histone Modification, Frataxin, FRDA, Neurodegenerative Disease, Repetitive DNA, Triplet repeat, Repeat Diseases
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Thursday, December 22, 2011
Wednesday, December 21, 2011
Orphan designation interferon gamma for the treatment of Friedreich’s ataxia.
On 9 December 2011, orphan designation (EU/3/11/935) was granted by the European Commission to Prof. Roberto Testi, Italy, for interferon gamma for the treatment of Friedreich’s ataxia.
Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: Comparison with studies in muscle biopsy
Molecular Genetics and Metabolism, In Press, Corrected Proof, doi:10.1016/j.ymgme.2011.11.193
Michael J. Goldenthal a, b, Teddy Kuruvilla b, Shirish Damle b, Leon Salganicoff b, Sudip Sheth b, Nidhi Shah b, Harold Marks a, b, Divya Khurana a, Ignacio Valencia a, Agustin Legido a.
a Section of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA
b Mitochondrial Disease Laboratory, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA
Keywors: Respiratory chain, Mitochondrial disease, Buccal swab, biopsied skeletal muscle, mitochondrial enzyme activities, Buccal citrate synthase, mitochondrial frataxin levels, relatively high correlation (over 82%), non-invasive.
Michael J. Goldenthal a, b, Teddy Kuruvilla b, Shirish Damle b, Leon Salganicoff b, Sudip Sheth b, Nidhi Shah b, Harold Marks a, b, Divya Khurana a, Ignacio Valencia a, Agustin Legido a.
a Section of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA
b Mitochondrial Disease Laboratory, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA
Keywors: Respiratory chain, Mitochondrial disease, Buccal swab, biopsied skeletal muscle, mitochondrial enzyme activities, Buccal citrate synthase, mitochondrial frataxin levels, relatively high correlation (over 82%), non-invasive.
Friday, December 16, 2011
Differentiating profiles of speech impairments in Friedreich's ataxia: a perceptual and instrumental approach
International Journal of Language & Communication Disorders. doi: 10.1111/j.1460-6984.2011.00078.x
Folker, J. E., Murdoch, B. E., Rosen, K. M., Cahill, L. M., Delatycki, M. B., Corben, L. A. and Vogel, A. P.
Keywords: dysarthria, neurodegenerative diseases, motor speech disorders, Friedreich's ataxia (FRDA), speech sample using an interval rating scale, instrumental measures, respiratory, laryngeal, velopharyngeal, articulatory systems.
Folker, J. E., Murdoch, B. E., Rosen, K. M., Cahill, L. M., Delatycki, M. B., Corben, L. A. and Vogel, A. P.
Keywords: dysarthria, neurodegenerative diseases, motor speech disorders, Friedreich's ataxia (FRDA), speech sample using an interval rating scale, instrumental measures, respiratory, laryngeal, velopharyngeal, articulatory systems.
Efficacy Study of Epoetin Alfa in Friedreich Ataxia (FRIEMAX)
ClinicalTrials.gov Identifier: NCT01493973
Sponsor: Federico II University
Collaborators: Friedreich's Ataxia Research Alliance (FARA)
Associazione Italiana per la lotta alle Sindromi Atassiche (AISA)
Information provided by (Responsible Party): Alessandro Filla, Federico II University
"This study is not yet open for participant recruitment."
Sponsor: Federico II University
Collaborators: Friedreich's Ataxia Research Alliance (FARA)
Associazione Italiana per la lotta alle Sindromi Atassiche (AISA)
Information provided by (Responsible Party): Alessandro Filla, Federico II University
"This study is not yet open for participant recruitment."
Pharmacodynamic studies of a histone deacetylase inhibitor in Friedreich’s ataxia
EU Clinical Trials Register
EudraCT Number: 2011-002744-27
Sponsor's Protocol Code Number: CR01849
National Competent Authority: UK - MHRA
Clinical Trial Type: EEA CTA
Trial Status: Ongoing
Date on which this record was first entered in the EudraCT database: 2011-09-16
Ataxia UK, Lay summary of Festenstein's hdaci study
EudraCT Number: 2011-002744-27
Sponsor's Protocol Code Number: CR01849
National Competent Authority: UK - MHRA
Clinical Trial Type: EEA CTA
Trial Status: Ongoing
Date on which this record was first entered in the EudraCT database: 2011-09-16
Ataxia UK, Lay summary of Festenstein's hdaci study
Thursday, December 15, 2011
HSC20 interacts with Frataxin and is involved in iron-sulfur cluster biogenesis and iron homeostasis
Hum. Mol. Genet. (2011) doi: 10.1093/hmg/ddr582
Yuxi Shan and Gino Cortopassi
Molecular Biosciences, 1120 Haring Hall, University of California, Davis, CA 95616
Keywords: Friedreich’s ataxia (FRDA), frataxin, mitochondrial iron-sulfur cluster (ISC) biosynthesis, ISC assembly machinery, mitochondrial chaperone HSC20, iron-dependent, ISCU/Nfs1, GRP75 ISC chaperone.
Yuxi Shan and Gino Cortopassi
Molecular Biosciences, 1120 Haring Hall, University of California, Davis, CA 95616
Keywords: Friedreich’s ataxia (FRDA), frataxin, mitochondrial iron-sulfur cluster (ISC) biosynthesis, ISC assembly machinery, mitochondrial chaperone HSC20, iron-dependent, ISCU/Nfs1, GRP75 ISC chaperone.
Wednesday, December 14, 2011
Improved Histone Deacetylase Inhibitors as Therapeutics for the Neurodegenerative Disease Friedreich’s Ataxia: A New Synthetic Route
Pharmaceuticals 2011, 4, 1578-1590; doi:10.3390/ph4121578 (doi registration under processing)
Chunping Xu 1, Elisabetta Soragni 1, Vincent Jacques 2, James R. Rusche 2 and Joel M. Gottesfeld 1.
1 Department of Molecular Biology, The Scripps Research Institute, 10550 N. Torreys Pines Road, La Jolla, CA 92037, USA
2 Repligen Corporation, 41 Seyon Street, Waltham, MA 02453, USA
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Chunping Xu 1, Elisabetta Soragni 1, Vincent Jacques 2, James R. Rusche 2 and Joel M. Gottesfeld 1.
1 Department of Molecular Biology, The Scripps Research Institute, 10550 N. Torreys Pines Road, La Jolla, CA 92037, USA
2 Repligen Corporation, 41 Seyon Street, Waltham, MA 02453, USA
OPEN ACCESS
FULL TEXT PDF
Tuesday, December 13, 2011
Grant Award: Electrical activity in a stem cell model of Friedreich Ataxia.
The Brain Foundation.
Australian Brain Research - Dr Karina Needham from the University of Melbourne received the Friedreich Ataxia Grant Award for her project title: Electrical activity in a stem cell model of Friedreich Ataxia.
Australian Brain Research - Dr Karina Needham from the University of Melbourne received the Friedreich Ataxia Grant Award for her project title: Electrical activity in a stem cell model of Friedreich Ataxia.
Monday, December 12, 2011
Epigenetic Enhancement of BDNF Signaling Rescues Synaptic Plasticity in Aging
The Journal of Neuroscience, 7 December 2011, 31(49): 17800-17810; doi: 10.1523/JNEUROSCI.3878-11.2011
Yan Zeng, Miao Tan, Jun Kohyama, Marissa Sneddon, Joseph B. Watson, Yi E. Sun, and
Cui-Wei Xie
Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California 90024
Keywords: Aging-related cognitive declines, synaptic plasticity, dendritic spines, reduced histone acetylation, brain-derived neurotrophic factor (Bdnf) gene, H3 and H4 acetylation, HDAC inhibition, 7,8-dihydroxyflavone, trkB, epigenetic or pharmacological.
Yan Zeng, Miao Tan, Jun Kohyama, Marissa Sneddon, Joseph B. Watson, Yi E. Sun, and
Cui-Wei Xie
Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California 90024
Keywords: Aging-related cognitive declines, synaptic plasticity, dendritic spines, reduced histone acetylation, brain-derived neurotrophic factor (Bdnf) gene, H3 and H4 acetylation, HDAC inhibition, 7,8-dihydroxyflavone, trkB, epigenetic or pharmacological.
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