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Genomes and Genes | Karen UsdinSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Is Friedreich ataxia an epigenetic disorder?Daman Kumari
Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 0830, USA
Clin Epigenetics 4:2. 2012..This review discusses evidence for and against different models for the repeat-mediated mRNA deficit...- NGG-triplet repeats form similar intrastrand structures: implications for the triplet expansion diseasesK Usdin
Section on Genomic Structure and Function, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 0830, USA
Nucleic Acids Res 26:4078-85. 1998.... 
The biological effects of simple tandem repeats: lessons from the repeat expansion diseasesKaren Usdin
Section on Gene Structure and Disease, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 0830, USA
Genome Res 18:1011-9. 2008....
DNA repeat expansions and human diseaseK Usdin
Section on Genomic Structure and Function, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 0830, USA
Cell Mol Life Sci 57:914-31. 2000..Recent advances are beginning to make rational approaches to the development of therapies possible...- The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndromeDaman Kumari
Section on Gene Structure and Disease, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes and Digestive and Kidney Disease NIH, Bethesda, MD 20892 0830, USA
Hum Mol Genet 19:4634-42. 2010..This suggests that the trigger for gene silencing may be local to the repeat itself and perhaps involves a mechanism similar to that involved in the formation of pericentric heterochromatin... - Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxiaEriko Greene
Section on Gene Structure and Disease, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 0830, USA
Nucleic Acids Res 35:3383-90. 2007..Our results also raise the possibility that the repeat-mediated increases in DNA methylation in the FXN gene in FRDA patients are secondary to the chromatin changes... - The role of DNA damage response pathways in chromosome fragility in Fragile X syndromeDaman Kumari
Section on Gene Structure and Disease, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 0830, USA
Nucleic Acids Res 37:4385-92. 2009..FRAXA also displays a second form of chromosome fragility in absence of FdU, which our data suggest is normally prevented by an ATM-dependent process... - ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation miceAli Entezam
Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 0830, USA
Nucleic Acids Res 37:6371-7. 2009..Our data thus support the hypothesis that two different mechanisms of FX repeat expansion exist, an ATR-sensitive mechanism seen on maternal transmission and an ATM-sensitive mechanism that shows a male expansion bias... - SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndromeRea Biacsi
Section on Genomic Structure and Function, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, United States of America
PLoS Genet 4:e1000017. 2008.... - Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cellsDaman Kumari
Section on Gene Structure and Disease, Laboratory of Molecular and Cellular Biology, NIDDK, National Institutes of Health, Bethesda, Maryland 20892 0830, USA
J Biol Chem 286:4209-15. 2011..Our findings may have implications for understanding the mechanism responsible for FRDA as well as for therapeutic approaches to reverse the transcription deficit... - Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation allelesVaishali Handa
Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892-0830, USA
FEBS Lett 579:2702-8. 2005..We show here that long transcribed but untranslated CGG-repeat tracts are toxic to human cells and alter the expression of a wide variety of different genes including caspase-8, CYFIP, Neurotensin and UBE3A... - Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse modelAli Entezam
Laboratory of Molecular and Cellular Biology, NIDDK, National Institutes of Health, Bethesda, MD 20892, United States
Gene 395:125-34. 2007.... - Chromatin remodeling in the noncoding repeat expansion diseasesDaman Kumari
Section on Gene Structure and Disease, Laboratory of Molecular and Cellular Biology, NIDDK, National Institutes of Health, Bethesda, Maryland 20892 0830, USA
J Biol Chem 284:7413-7. 2009.... - ATR protects the genome against CGG.CCG-repeat expansion in Fragile X premutation miceAli Entezam
Section on Gene Structure and Disease, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 0830, USA
Nucleic Acids Res 36:1050-6. 2008..In addition, our data provide an explanation for the maternal bias of large expansions in humans and the lower incidence of these expansions in mice... - The AUUCU repeats responsible for spinocerebellar ataxia type 10 form unusual RNA hairpinsVaishali Handa
Laboratory of Molecular and Cellular Biology, National Institutes of Health, Bethesda, MD 20892-0830, USA
J Biol Chem 280:29340-5. 2005..Thus the ability to form an RNA hairpin seems to be a common property of those Repeat Expansion Diseases that are not recessively inherited and are caused by repeats that are transcribed but not translated... - Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse modelAli Entezam
Section on Genomic Structure and Function, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, 8 Center Drive, Bethesda, MD 20892, USA
Hum Mutat 31:611-6. 2010..We show here that KBrO(3) increased both the level of 8-oxoG in the oocytes of treated animals and the germline expansion frequency. Our data thus suggest that oxidative damage may be a factor that could affect expansion risk in humans... - A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesisMei Qin
Section on Neuroadaptation and Protein Metabolism, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA
Neurobiol Dis 42:85-98. 2011..Our results highlight similarities in phenotype between KI and Fmr1 knockout mice and suggest that the decreased concentration of FMRP contributes to the phenotype in young adult KI mice... - Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, progressive myoclonus epilepsy type 1, and Friedreich ataxiaE Greene
Section on Genomic Structure and Function, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892-0830, USA
Cytogenet Genome Res 100:65-76. 2003..In this review, we discuss current models for the relationship between the expanded repeat and the disease symptoms... - The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by DicerVaishali Handa
Section on Genomic Structure and Function, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 0830, USA
Nucleic Acids Res 31:6243-8. 2003..In addition, RNA hairpins may also account for the stalling of the 40S ribosomal subunit that is thought to contribute to the translation deficit in fragile X pre-mutation and full mutation alleles... - NF-Y, AP2, Nrf1 and Sp1 regulate the fragile X-related gene 2 (FXR2)Lata Mahishi
Gene Structure and Disease Section, NIDDK (National Institute of Diabetes and Digestive and Kidney Diseases, NIH (National Institutes of Health, Bethesda, MD 20892-0830, USA
Biochem J 400:327-35. 2006.... - Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeatsE Grabczyk
Section on Genomic Structure and Function, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 0830, USA
Nucleic Acids Res 28:4930-7. 2000..In principle, therapeutic agents that selectively interfere with triplex formation could alleviate the frataxin transcript insufficiency caused by pathogenic FRDA alleles... - The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent mannerE Grabczyk
Section on Genomic Structure and Function, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 0830, USA
Nucleic Acids Res 28:2815-22. 2000..The non-template (GAA) strand folds back creating a loop in the template strand, and the polymerase is paused at the distal triplex-duplex junction... - Somatic expansion in mouse and human carriers of fragile X premutation allelesRachel Adihe Lokanga
Section on Gene Structure and Disease, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 0830, USA
Hum Mutat 34:157-66. 2013..This could explain, at least in part, the variable penetrance seen in some of these disorders... - The roles of Sp1, Sp3, USF1/USF2 and NRF-1 in the regulation and three-dimensional structure of the Fragile X mental retardation gene promoterDaman Kumari
National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 0830, USA
Biochem J 386:297-303. 2005..We can reconcile these observations with the positive effect of Sp1 and Sp3 if protein-induced bending acts, at least in part, to bring together distally spaced factors important for transcription initiation... - Tetraplex formation by the progressive myoclonus epilepsy type-1 repeat: implications for instability in the repeat expansion diseasesT Saha
Section on Genomic Structure and Function, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes and Kidney Diseases, Building 8, Room 202, National Institutes of Health, 8 CENTER DR MSC 0830, Bethesda, MD 20892 0830, USA
FEBS Lett 491:184-7. 2001..However, EPM1 is unique in that tetraplexes are the only structures likely to form in long unpaired repeat tracts under physiological conditions... - Ancient repeated DNA elements and the regulation of the human frataxin promoterEriko Greene
Section on Genomic Structure and Function, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892-0830, USA
Genomics 85:221-30. 2005.... - Instability of the fragile X syndrome repeat in mice: the effect of age, diet and mutations in genes that affect DNA replication, recombination and repair proficiencyK Fleming
Section on Genomic Structure and Function, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892-0830, USA
Cytogenet Genome Res 100:140-6. 2003..Moreover, the fact that contractions occur in the absence of expansions suggests that these processes occur by different mechanisms... - Fragile X syndrome and Friedreich's ataxia: two different paradigms for repeat induced transcript insufficiencyE Grabczyk
Section on Genomic Structure and Function, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892-0830, USA
Brain Res Bull 56:367-73. 2001..purine. pyrimidine DNA triplex behind an advancing RNA polymerase. This structure lassoes the RNA polymerase that caused it, trapping the enzyme on the template... - Interaction of the transcription factors USF1, USF2, and alpha -Pal/Nrf-1 with the FMR1 promoter. Implications for Fragile X mental retardation syndromeD Kumari
Section on Genomic Structure and Function, Laboratory of Molecular and Cellular Biology, NIDDK, National Institutes of Health, Bethesda, Maryland 20892 0830, USA
J Biol Chem 276:4357-64. 2001..This suggests that for efficient reactivation of the FMR1 promoter, significant demethylation must occur and that current approaches to gene reactivation using histone deacetylase inhibitors alone may therefore have limited effect... - Rapid evolution of a young L1 (LINE-1) clade in recently speciated Rattus taxaE L Cabot
Section on Genomic Structure and Function, NIDDK, NIH, Bethesda, MD 20892 0830, USA
J Mol Evol 45:412-23. 1997....