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Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 9, pp. 2092 - 2102
To demonstrate the utility of an amplification-free long-read sequencing method to characterize the Fuchs endothelial corneal dystrophy (FECD)-associated... 
somatic mosaicism | amplification-free sequencing | Fuchs endothelial corneal dystrophy | triplet repeat-mediated disease | no-amp targeted sequencing | CRISPR | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2018, Volume 102, Issue 4, pp. 528 - 539
Journal Article
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, ISSN 0964-2633, 09/2015, Volume 59, Issue 9, pp. 801 - 801
Conference Proceeding
CEREBELLUM, ISSN 1473-4222, 09/2009, Volume 8, Issue 3, pp. 245 - 259
Friedreich's ataxia (FRDA) is a neurodegenerative disease due to a pathological expansion of a GAA triplet repeat in the first intron of the FXN gene encoding... 
HUMAN FRATAXIN | RECOMBINANT-HUMAN-ERYTHROPOIETIN | TRIPLET-REPEAT | YEAST FRATAXIN | NEUROSCIENCES | IRON-SULFUR CLUSTERS | Friedreich's ataxia | Frataxin | Neurodegeneration | GAA triplet repeat | IN-VIVO | FRAGILE-X-SYNDROME | FXN gene | CONTROLLING MITOCHONDRIAL BIOGENESIS | HISTONE DEACETYLASE INHIBITORS | DOT-TTC REPEATS
Journal Article
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2014, Volume 9, Issue 4, pp. e93464 - e93464
Expansion of GAA center dot TTC repeats within the first intron of the frataxin gene is the cause of Friedreich's ataxia (FRDA), an autosomal recessive... 
PLURIPOTENT STEM-CELLS | OXIDATIVE STRESS | MULTIDISCIPLINARY SCIENCES | IN-VIVO | FRATAXIN GENE | TRANSCRIPTION ELONGATION | TRIPLET-REPEAT | MISMATCH REPAIR | HISTONE DEACETYLASE INHIBITORS | DOT-TTC REPEATS | EPIGENETIC CHANGES | DNA Damage - drug effects | Genomic Instability | Sequence Deletion | Introns | Humans | Antineoplastic Agents, Alkylating - pharmacology | DNA Replication | Trinucleotide Repeat Expansion | Friedreich Ataxia - genetics | DNA Breaks, Single-Stranded - drug effects | Dacarbazine - pharmacology | DNA Repair | Dacarbazine - analogs & derivatives | Cell Line, Tumor | Alkylation - drug effects | Nucleic Acid Conformation | Care and treatment | DNA damage | Analysis | Ataxia | Development and progression | DNA synthesis | Diagnosis | Slippage | Oxidative stress | Disease | Biochemistry | Foaming agents | Base excision repair | DNA repair | Alkylation | Proteins | Synthesis | Clonal deletion | Frataxin | DNA methylation | Deletion | Lesions | Damage | Repair | Age | Public health | Deoxyribonucleic acid--DNA | Lymphoblasts | Enzymes | Stability | Neurodegenerative diseases | Medical treatment | Alkylating agents | Environmental health | RNA polymerase | Gene expression | FEN1 protein | Hereditary diseases | DNA biosynthesis | Friedreich's ataxia | Temozolomide | Cancer | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
PLoS ONE, ISSN 1932-6203, 2010, Volume 5, Issue 4, pp. e10025 - e10025
Background: Cells from individuals with Friedreich's ataxia (FRDA) show reduced activities of antioxidant enzymes and cannot up-regulate their expression when... 
OXIDATIVE STRESS | TRIPLET REPEAT | REPEAT EXPANSION | ENDOTHELIAL-CELLS | BIOLOGY | GENE-EXPRESSION | TRANSCRIPTIONAL COACTIVATOR | YEAST FRATAXIN | PROMOTES MITOCHONDRIAL BIOGENESIS | MOUSE MODELS | IRON ACCUMULATION | Friedreich Ataxia - metabolism | Superoxide Dismutase - analysis | Oxidative Stress | Friedreich Ataxia - pathology | Antioxidants - metabolism | Humans | Cells, Cultured | Hydrogen Peroxide - pharmacology | Transcription Factors - genetics | PPAR gamma | Case-Control Studies | Down-Regulation - genetics | Mice, Knockout | Heat-Shock Proteins - genetics | Animals | Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha | Mice | Cyclic AMP-Dependent Protein Kinases | Antioxidants | Enzymes | Ataxia | Superoxide | Hydrogen peroxide | Protein kinases | Cerebellum | Protein kinase A | Oxidative stress | Spinal cord | Animal models | Yeast | Transcription | Pathogenesis | Superoxide dismutase | Biosynthesis | Mitochondrial DNA | Kinases | Proteins | Mitochondria | Control | Hyperglycemia | Bioenergetics | Rodents | Down-regulation | Fibroblasts | Stress response | Deoxyribonucleic acid--DNA | Hydrogen ion concentration | Stresses | Pioglitazone | siRNA | Pharmacology | Metabolism | Patients | Stress | Friedreich's ataxia | Musculoskeletal system | Protein kinase | Diabetes | Mutation | Molecular biology | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article