Affiliation: University of Pennsylvania
- Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologueR B Wilson
Department of Pathology, University of Pennsylvania, Philadelphia 19104, USA
Nat Genet 16:352-7. 1997..Our data suggest that mitochondrial dysfunction contributes to FRDA pathophysiology...
- Introduction of mismatches in a random shRNA-encoding library improves potency for phenotypic selectionYongping Wang
Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States of America Department of Pathology and Laboratory Medicine, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
PLoS ONE 9:e87390. 2014..The improved potency of our second-generation library expands the range of possible unbiased screens for small-RNA therapeutics and biologic tools. ..
- A random shRNA-encoding library for phenotypic selection and hit-optimizationYongping Wang
Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
PLoS ONE 3:e3171. 2008..Our library allows unbiased selection and optimization of shRNA-encoding sequences that confer phenotypes of interest, and could be used for the development of therapeutics and tools in many fields of biology...
- Therapeutic developments in Friedreich ataxiaRobert B Wilson
Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA
J Child Neurol 27:1212-6. 2012..These initiatives are in preclinical and clinical development and are reviewed herein...
- Iron dysregulation in Friedreich ataxiaRobert B Wilson
Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19106, USA
Semin Pediatr Neurol 13:166-75. 2006..Iron chelators and compounds that increase frataxin expression are under evaluation. Further elucidation of frataxin's function should lead to additional therapeutic approaches...
- Frataxin and frataxin deficiency in Friedreich's ataxiaRobert B Wilson
Department of Pathology and Laboratory Medicine, University of Pennsylvania, Room 509A, Stellar Chance Laboratories, 422 Curie Boulevard, Philadelphia 19104, USA
J Neurol Sci 207:103-5. 2003
- Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndromeDavid G Brooks
Division of Medical Genetics, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Invest Ophthalmol Vis Sci 43:1121-6. 2002..HHCS was diagnosed in this study in one of the first families known to be affected in the United States, and the basis of lens opacities in HHCS was determined...
- Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapyDavid R Lynch
Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, USA
Arch Neurol 59:743-7. 2002..Although no proven therapy is yet available, antioxidants are a potential method for therapeutic intervention...
- Near infrared muscle spectroscopy in patients with Friedreich's ataxiaDavid R Lynch
Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Muscle Nerve 25:664-73. 2002..These results suggest that NIRS may be an effective tool for monitoring the biochemical and functional features of Friedreich's ataxia in parallel...
- Measuring the rate of progression in Friedreich ataxia: implications for clinical trial designLisa S Friedman
Department of Neurology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Mov Disord 25:426-32. 2010..These results help to establish norms for progression in FRDA that can be useful in measuring the long-term success of therapeutic agents and defining sample-size calculations for double-blind clinical trials...
- Increased IRP1 activity in Friedreich ataxiaLioba Lobmayr
University of Pennsylvania School of Medicine, Department of Pathology and Laboratory Medicine, Room 509A, Stellar Chance Laboratories, 422 Curie Blvd, Philadelphia, PA 19104, USA
Gene 354:157-61. 2005..Our data suggest an impaired adaptive response to iron accumulation in FRDA cells...
- Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxiaCatherine A Stolle
The Department of Pathology and Laboratory Medicine, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104 4318, USA
Mov Disord 23:1303-6. 2008..Our observations suggest that interrupted GAA repeats do not clearly impact the age of onset in FA...
- Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation testsShuji Ogino
Department of Pathology, Brigham and Womens Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
Genet Med 7:317-27. 2005..Although neonatal screening (or newborn screening) for cystic fibrosis (CF) is commonly practiced, systematic methods for accurate risk calculations are currently lacking...
- Pharmacotherapy for Friedreich ataxiaAmy Y Tsou
Department of Neurology, University of Pennsylvania School of Medicine, and Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104 4318, USA
CNS Drugs 23:213-23. 2009..However, continued development of new therapies will require creation of new, more sensitive measures for neurological dysfunction in FA, and clinically relevant measures of cardiac dysfunction...
- Urinary isoprostanes in Friedreich ataxia: lack of correlation with disease featuresLauren M Myers
Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
Mov Disord 23:1920-2. 2008..Thus, urinary F(2)-isoprostanes are not a useful biomarker in FA...
- 2003 International Friedreich's Ataxia Research Conference, 14-16 February 2003, Bethesda, MD, USAHervé Seznec
Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, CNRS INSERM Universite Louis Pasteur, 1 rue Laurent Fries BP 10142, Illkirch Cedex 67404, CU de Strasbourg, France
Neuromuscul Disord 14:70-82. 2004
- Spinal muscular atrophy genetic testing experience at an academic medical centerShuji Ogino
Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania 19104, USA
J Mol Diagn 4:53-8. 2002..We conclude that comprehensive SMA testing, including SMN1 deletion analysis, SMN1 gene dosage analysis, and linkage analysis, offers the most complete evaluation of SMA patients and their families...
- Transferrin receptor hyperexpression in primary erythroblasts is lost on transformation by avian erythroblastosis virusLioba Lobmayr
Institute of Medical Biochemistry, Division of Molecular Biology, Vienna Biocenter, Vienna, Austria
Blood 100:289-98. 2002..In summary, stabilization of TfR mRNA and redistribution of Fe-Tf/TfR complexes to late endosomal compartments may contribute to TfR hyperexpression in primary erythroblasts, effects that are lost on leukemic transformation...
- Mortality in Friedreich's AtaxiaDavid R Lynch
Tex Heart Inst J 34:502-3; author reply 503-4. 2007
- Alpha-synuclein-induced aggregation of cytoplasmic vesicles in Saccharomyces cerevisiaeJames H Soper
Center for Neurodegenerative Disease Research and Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
Mol Biol Cell 19:1093-103. 2008....
- Quantification of PCR bias caused by a single nucleotide polymorphism in SMN gene dosage analysisShuji Ogino
Department of Pathology, Brigham and Women s Hospital, Boston, MA 02115, USA
J Mol Diagn 4:185-90. 2002..As additional clinically significant single nucleotide polymorphisms (SNPs) are discovered, assessment of PCR bias, and judicious selection of standards and controls, will be increasingly important for quantitative PCR assays...
- Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatmentsNgolela E Babady
Department of Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, MN 55905, USA, and Bruce Lefroy Centre for Genetic Health Research, Murdoch Children s Research Institute, Royal Children s Hospital, Melbourne, Australia
Mol Genet Metab 92:23-35. 2007..Story Landis noted in her opening remarks for the conference that there was a "palpable sense of energy, excitement, and enthusiasm" over the scientific progress made since the FRDA gene was discovered over 10 years ago...
- Comment on SMN2 deletion in childhood-onset spinal muscular atrophyShuji Ogino
Am J Med Genet 109:243-4; author reply 245. 2002
- Antioxidant use in Friedreich ataxiaLauren Myers
Department of Neurology, University of Pennsylvania School of Medicine, USA
J Neurol Sci 267:174-6. 2008..This confirms that non-prescription antioxidant use represents a major confounder to formal trials of existing and novel agents for Friedreich ataxia...
- FUNCTIONAL STUDIES OF THE FRIEDREICHS ATAXIA PROTEINRobert Wilson; Fiscal Year: 2002..The results of these studies will further the understanding of the pathophysiology of Friedreich's Ataxia and are therefore relevant to the development of novel methods of prevention and treatment. ..
- Friedreich's Ataxia Research ConferenceRobert Wilson; Fiscal Year: 2003....
- Friedreich Ataxia High Throughput Drug Screening AssaysRobert Wilson; Fiscal Year: 2004..We will use a colony-color screening technique in the yeast model system to identify the target proteins of hit compounds from our high-throughput drug screening assays for FRDA. ..
- Identification of Anticancer Drug TargetsRobert Wilson; Fiscal Year: 2004..The human homologs of genes identified in Aim 1 will be cloned, and the consequences of their mutation in appropriate cell lines will be determined. ..
- High throughput screen for cyclin D1 inhibitors (RMI)Robert Wilson; Fiscal Year: 2004....
- 3rd International Friedreich's Ataxia Scientific ConferenceRobert Wilson; Fiscal Year: 2007..These advances in therapeutic approaches will have direct applications to individuals with FRDA as well as to individuals with other rare and common diseases. [unreadable] [unreadable] [unreadable]..
- Drug and drug target identification for Friedreich ataxiaRobert Wilson; Fiscal Year: 2008..We will take advantage of the complete library of yeast knockout strains to identify additional target proteins and pathways using genetic suppressor analysis. We will confirm our findings in primary FRDA fibroblasts. ..