Embiruçu EK, Martyn ML, Schlesinger D, Kok F.
Outpatient Neurogenetics Clinic, Hospital das Clínicas, School of Medicine, University of São Paulo, São Paulo, SP, Brazil.
Keywords: Friedreich ataxia, autosomal recessive ataxias, neurogenetics, clinical and pathophysiological aspects, diagnosis.
Thursday, January 14, 2010
Tuesday, January 12, 2010
Treatment of mitochondrial electron transport chain disorders: A review of clinical trials over the past decade.
Mol Genet Metab. 2009 Nov 26. [Epub ahead of print]
Center for Inherited Disorders of Metabolism, University Hospitals Case Medical Center, Rainbow Babies and Childrens Hospital, Department of Pediatrics, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH 44106-6004, USA.
Keywords: mitochondrial electron transport chain disorders, controlled clinical trials, dichloroacetate (DCA), arginine, coenzyme Q(10), idebenone, neuropathy, Friedreich ataxia, cardiomyopathy, neurological protection.
Keywords: mitochondrial electron transport chain disorders, controlled clinical trials, dichloroacetate (DCA), arginine, coenzyme Q(10), idebenone, neuropathy, Friedreich ataxia, cardiomyopathy, neurological protection.
Monday, January 11, 2010
Penwest Announces Initiation of Phase IIa Clinical Trial of A0001 in Patients With Friedreich's Ataxia
PATTERSON, N.Y., Jan. 11, 2010 (GLOBE NEWSWIRE)
Sunday, January 10, 2010
Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design
Movement Disorders, Early View (Articles online in advance of print)
Published Online: 8,Jan,2010
Lisa S. Friedman, BS 1 2 3, Jennifer M. Farmer, MS 1 2 3, Susan Perlman, MD 4, George Wilmot, MD, PhD 5, Christopher M. Gomez, MD PhD 6 7, Khalaf O. Bushara, MD 6, Katherine D. Mathews, MD 8, S. H. Subramony, MD 9 10, Tetsuo Ashizawa, MD 9 11, Laura J. Balcer, MD, MSCE 1, Robert B. Wilson, MD, PhD 12, David R. Lynch 1 2 3 *1Department of Neurology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
2Department of Pediatrics, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
3Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
4Department of Neurology, David Geffen School of Medicine at the University of California, Los Angeles, Los Angeles, California, USA
5Department of Neurology, Emory University, Atlanta, Georgia, USA
6Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA
7Department of Neurology, University of Chicago, Chicago, Illinois, USA
8Departments of Neurology and Pediatrics, University of Iowa, Iowa City, Iowa, USA
9Department of Neurology, University of Texas Medical Branch, Galveston, Texas, USA
10Department of Neurology, University of Mississippi, Jackson, Mississippi, USA
11Department of Neurology, University of Florida, Gainesville, Florida, USA
12Department of Pathology and Laboratory Medicine, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
Keywords: Friedreich ataxia, natural history study, clinical neurology examination, mitochondrial disorder, trinucleotide repeat disease
Published Online: 8,Jan,2010
Lisa S. Friedman, BS 1 2 3, Jennifer M. Farmer, MS 1 2 3, Susan Perlman, MD 4, George Wilmot, MD, PhD 5, Christopher M. Gomez, MD PhD 6 7, Khalaf O. Bushara, MD 6, Katherine D. Mathews, MD 8, S. H. Subramony, MD 9 10, Tetsuo Ashizawa, MD 9 11, Laura J. Balcer, MD, MSCE 1, Robert B. Wilson, MD, PhD 12, David R. Lynch 1 2 3 *1Department of Neurology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
2Department of Pediatrics, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
3Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
4Department of Neurology, David Geffen School of Medicine at the University of California, Los Angeles, Los Angeles, California, USA
5Department of Neurology, Emory University, Atlanta, Georgia, USA
6Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA
7Department of Neurology, University of Chicago, Chicago, Illinois, USA
8Departments of Neurology and Pediatrics, University of Iowa, Iowa City, Iowa, USA
9Department of Neurology, University of Texas Medical Branch, Galveston, Texas, USA
10Department of Neurology, University of Mississippi, Jackson, Mississippi, USA
11Department of Neurology, University of Florida, Gainesville, Florida, USA
12Department of Pathology and Laboratory Medicine, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
Keywords: Friedreich ataxia, natural history study, clinical neurology examination, mitochondrial disorder, trinucleotide repeat disease
Friday, January 8, 2010
Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin.
Hum Mol Genet. 2010 Jan 6.
Condò I, Malisan F, Guccini I, Serio D, Rufini A, Testi R.
Laboratory of Signal Transduction, Department of Experimental Medicine and Biochemical Sciences, University of Rome "Tor Vergata", Rome.
Keywords: , frataxin, Friedreich's Ataxia (FRDA), progressive gait instability, cardiomyopathy, high incidence of diabetes, iron-binding protein, iron-sulfur clusters (ISC), iron-chaperone, extramitochondrial pool of mature frataxin, cytosolic aconitase/IRP1, enzymatic and a RNA-binding function, IRP1 activation.
Condò I, Malisan F, Guccini I, Serio D, Rufini A, Testi R.
Laboratory of Signal Transduction, Department of Experimental Medicine and Biochemical Sciences, University of Rome "Tor Vergata", Rome.
Keywords: , frataxin, Friedreich's Ataxia (FRDA), progressive gait instability, cardiomyopathy, high incidence of diabetes, iron-binding protein, iron-sulfur clusters (ISC), iron-chaperone, extramitochondrial pool of mature frataxin, cytosolic aconitase/IRP1, enzymatic and a RNA-binding function, IRP1 activation.
Tuesday, January 5, 2010
Stem cells in human neurodegenerative disorders — time for clinical translation?
Clin. Invest. 120(1): 29-40 (2010). doi:10.1172/JCI40543. (January 4, 2010)
Olle Lindvall, Zaal Kokaia
Keywords: Stem cell–based approaches, potential treatments, neurodegenerative disorders, improve function, remyelination, trophic actions,modulation of inflammation.
Olle Lindvall, Zaal Kokaia
Keywords: Stem cell–based approaches, potential treatments, neurodegenerative disorders, improve function, remyelination, trophic actions,modulation of inflammation.
Thursday, December 31, 2009
Subcellular targeting strategies for drug design and delivery
Nature Reviews Drug Discovery 9, 29-42 (January 2010) | doi:10.1038/nrd2897
&
drug targets, drug design strategies, bioavailability, tissue targeting, specific intracellular compartments.
Tuesday, December 29, 2009
Molecular diagnostics: techniques and applications for the clinical laboratory
Book review.
Wayne Grody, UCLA School of Medicine, Los Angeles, CA, USA Professor Divisions of Medical Genetics and Molecular Pathology Departments of Path. & Lab. Medicine, Pediatrics, and Human Genetics UCLA School of Medicine Los Angeles, CA 90095-1732
Robert Nakamura, Scripps Clinic, La Jolla, CA, U.S.A.
Frederick Kiechle, Medical Director, Clinical Pathology Department of Pathology Pathology Consultants of South Broward Memorial Healthcare System
Charles Strom, Medical Director, Genetic Testing Center Nichols Institute, Quest Diagnostics, San Juan Capistrano, CA, U.S.A. s
Hardbound, 736 pages, publication date: DEC-2009
ISBN-13: 978-0-12-369428-7
ISBN-10: 0-12-369428-0
Imprint: ACADEMIC PRESS
Wayne Grody, UCLA School of Medicine, Los Angeles, CA, USA Professor Divisions of Medical Genetics and Molecular Pathology Departments of Path. & Lab. Medicine, Pediatrics, and Human Genetics UCLA School of Medicine Los Angeles, CA 90095-1732
Robert Nakamura, Scripps Clinic, La Jolla, CA, U.S.A.
Frederick Kiechle, Medical Director, Clinical Pathology Department of Pathology Pathology Consultants of South Broward Memorial Healthcare System
Charles Strom, Medical Director, Genetic Testing Center Nichols Institute, Quest Diagnostics, San Juan Capistrano, CA, U.S.A. s
Hardbound, 736 pages, publication date: DEC-2009
ISBN-13: 978-0-12-369428-7
ISBN-10: 0-12-369428-0
Imprint: ACADEMIC PRESS
In Vivo Fluorescent Detection of Fe-S Clusters Coordinated by Human GRX2
Kevin G. Hoff1, 2, 4,, Stephanie J. Culler1, 4, Peter Q. Nguyen2, Ryan M. McGuire3, Jonathan J. Silberg2, 3, and Christina D. Smolke1
1 Division of Chemistry and Chemical Engineering, California Institute of Technology, 1200 E. California Boulevard, Mail Code 210-41, Pasadena, CA 91125, USA
2 Department of Biochemistry and Cell Biology, Rice University, 6100 Main Street, MS 140, Houston, TX 77005, USA
3 Department of Bioengineering, Rice University, 6100 Main Street, MS 140, Houston, TX 77005, USA
Keywords: Fe-S cluster biosynthesis, fluorescent approach, 2Fe2S clusters, Venus fluorescent protein, glutaredoxin 2 (GRX2), ISCU, NFS1.
1 Division of Chemistry and Chemical Engineering, California Institute of Technology, 1200 E. California Boulevard, Mail Code 210-41, Pasadena, CA 91125, USA
2 Department of Biochemistry and Cell Biology, Rice University, 6100 Main Street, MS 140, Houston, TX 77005, USA
3 Department of Bioengineering, Rice University, 6100 Main Street, MS 140, Houston, TX 77005, USA
Keywords: Fe-S cluster biosynthesis, fluorescent approach, 2Fe2S clusters, Venus fluorescent protein, glutaredoxin 2 (GRX2), ISCU, NFS1.
Splitting Fluorescent Protein Helps Image Clusters in Live Cells
AZoM.com Pty.Ltd
Posted December 24th, 2009
Keywords: Iron-sulfur clusters, Friedreich's ataxia, sideroblastic anemia, myopathy, fluorescent protein, GRX2, iron-sulfur irregularities, American Heart Association, Friedreich's Ataxia Research Alliance, Robert A. Welch Foundation.
Posted December 24th, 2009
Keywords: Iron-sulfur clusters, Friedreich's ataxia, sideroblastic anemia, myopathy, fluorescent protein, GRX2, iron-sulfur irregularities, American Heart Association, Friedreich's Ataxia Research Alliance, Robert A. Welch Foundation.
Subscribe to:
Posts (Atom)
