Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy

scientific article published on 19 February 2013

Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1155/2013/852080
P932PMC publication ID3590757
P698PubMed publication ID23533785
P5875ResearchGate publication ID236085322

P2093author name stringChiranjeevi Sandi
Mark A Pook
Sahar Al-Mahdawi
P2860cites workGenome-wide prediction and identification of cis-natural antisense transcripts in Arabidopsis thalianaQ21184167
A novel RNA transcript with antiapoptotic function is silenced in fragile X syndromeQ21562300
DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian developmentQ22010765
The nuclear DNA base 5-hydroxymethylcytosine is present in Purkinje neurons and the brainQ22065852
An integrated encyclopedia of DNA elements in the human genomeQ22122150
Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1Q24316558
CpG methylation, chromatin structure and gene silencing-a three-way connectionQ24533302
Over 20% of human transcripts might form sense-antisense pairsQ24564527
GENCODE: the reference human genome annotation for The ENCODE ProjectQ24608743
A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expressionQ24620388
CTCF: master weaver of the genomeQ24621388
ACETYLATION AND METHYLATION OF HISTONES AND THEIR POSSIBLE ROLE IN THE REGULATION OF RNA SYNTHESISQ24629431
Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxiaQ24634126
Identification of 67 histone marks and histone lysine crotonylation as a new type of histone modificationQ24635918
Decitabine in the treatment of myelodysplastic syndromesQ24641906
Small dsRNAs induce transcriptional activation in human cellsQ24676787
Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular modelsQ26860523
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse modelQ27301415
Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophyQ27342852
Chromatin modifications and their functionQ27861067
RNA interferenceQ28131798
Antisense starts making more senseQ28187514
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranesQ28249379
CTCF-promoted RNA polymerase II pausing links DNA methylation to splicingQ28249503
LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproateQ28251155
In search of antisenseQ28257888
The Sir2 family of protein deacetylasesQ28266179
A novel sequence-specific DNA binding protein which interacts with three regularly spaced direct repeats of the CCCTC-motif in the 5'-flanking sequence of the chicken c-myc geneQ28271955
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansionQ28275699
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotesQ28297330
Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early developmentQ28304098
Stage- and cell-specific expression of Dnmt3a and Dnmt3b during embryogenesis.Q52114392
HDAC inhibitors: clinical update and mechanism-based potential.Q53333442
Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.Q55033015
Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutationsQ56974340
Oxamflatin is a novel antitumor compound that inhibits mammalian histone deacetylaseQ57228797
Identification of miRNA Changes in Alzheimer's Disease Brain and CSF Yields Putative Biomarkers and Insights into Disease PathwaysQ57982495
A novel deletion–insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotypeQ58157164
DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencingQ59071144
Clinical, biochemical and molecular genetic correlations in Friedreich's ataxiaQ73295495
GGA*TCC-interrupted triplets in long GAA*TTC repeats inhibit the formation of triplex and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilitiesQ73813232
Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcriptionQ73842935
Silencing gene expression by targeting chromosomal DNA with antigene peptide nucleic acids and duplex RNAsQ80092871
CTCF binding sites promote transcription initiation and prevent DNA methylation on the maternal allele at the imprinted H19/Igf2 locusQ80159085
Breaking the silence in Friedreich's ataxiaQ80286140
Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expressionQ81527224
Combinations of DNA Methyltransferase and Histone Deacetylase Inhibitors Induce DNA Damage in Small Cell Lung Cancer Cells: Correlation of Resistance with IFN-Stimulated Gene ExpressionQ39672023
Promoter demethylation and chromatin remodeling by green tea polyphenols leads to re-expression of GSTP1 in human prostate cancer cellsQ39783504
Synergistic effect of trichostatin A and 5-aza-2'-deoxycytidine on growth inhibition of pancreatic endocrine tumour cell lines: a proteomic study.Q39871548
Effects of green tea polyphenol on methylation status of RECK gene and cancer cell invasion in oral squamous cell carcinoma cellsQ39956136
Identification of miRNA changes in Alzheimer's disease brain and CSF yields putative biomarkers and insights into disease pathwaysQ39975165
Phase I study of MG98, an oligonucleotide antisense inhibitor of human DNA methyltransferase 1, given as a 7-day infusion in patients with advanced solid tumors.Q39985716
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissuesQ40149163
Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.Q40241487
The role of histone acetylation in SMN gene expression.Q40437533
Phase II trial of DNA methyltransferase 1 inhibition with the antisense oligonucleotide MG98 in patients with metastatic renal carcinoma: a National Cancer Institute of Canada Clinical Trials Group investigational new drug studyQ40485362
A phase I pharmacokinetic and pharmacodynamic study of the DNA methyltransferase 1 inhibitor MG98 administered twice weeklyQ40560930
CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locusQ40789249
In vitro reactivation of the FMR1 gene involved in fragile X syndromeQ40868842
Pimelic diphenylamide 106 is a slow, tight-binding inhibitor of class I histone deacetylasesQ42109512
Inhibiting gene expression at transcription start sites in chromosomal DNA with antigene RNAsQ42677869
Phase 1 study of low-dose prolonged exposure schedules of the hypomethylating agent 5-aza-2'-deoxycytidine (decitabine) in hematopoietic malignanciesQ44646952
Comparison of pathways controlling toxicity in the eye and brain in Drosophila models of human neurodegenerative diseasesQ44978542
Intragenic DNA methylation alters chromatin structure and elongation efficiency in mammalian cellsQ45092709
Exonic deletions of FXN and early-onset Friedreich ataxiaQ45395750
Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxiaQ45857597
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.Q46520508
Sirt1 inhibitor, Sirtinol, induces senescence-like growth arrest with attenuated Ras-MAPK signaling in human cancer cellsQ46709814
Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF.Q46802333
FXN methylation predicts expression and clinical outcome in Friedreich ataxia.Q47872898
Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondriaQ48047307
Increased iron in the dentate nucleus of patients with Friedrich's ataxiaQ48166308
The dentate nucleus in Friedreich's ataxia: the role of iron-responsive proteinsQ48197448
The epigenetic magic of histone lysine methylationQ48591117
Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse modelQ28472583
Recombinant human DNA (cytosine-5) methyltransferase. I. Expression, purification, and comparison of de novo and maintenance methylationQ28609169
Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse modelQ28743986
Functions of DNA methylation: islands, start sites, gene bodies and beyondQ29547260
Landscape of transcription in human cellsQ29547467
The diverse functions of histone lysine methylationQ29614523
The DNA methyltransferases of mammalsQ29617317
Polycomb-mediated methylation on Lys27 of histone H3 pre-marks genes for de novo methylation in cancerQ29622925
CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense noncoding RNA.Q30502612
DNA methylation, methyltransferases, and cancerQ30993657
CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determinationQ33384414
Bidirectional transcription directs both transcriptional gene activation and suppression in human cellsQ33384427
Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcriptionQ33517116
Chemical probes identify a role for histone deacetylase 3 in Friedreich's ataxia gene silencingQ34019122
Effect of chemical modifications on modulation of gene expression by duplex antigene RNAs that are complementary to non-coding transcripts at gene promotersQ34080079
Altered microRNA regulation in Huntington's disease modelsQ34146968
Small interfering RNA-induced transcriptional gene silencing in human cellsQ34161327
Transcribed dark matter: meaning or myth?Q34192913
The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndromeQ34275676
Loss of methylation activates Xist in somatic but not in embryonic cellsQ34295214
Heterochromatin and tri-methylated lysine 20 of histone H4 in animalsQ34318944
Epigenetic regulation of mammalian genomic imprintingQ34326896
A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxiaQ34376985
Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissuesQ34399378
Histone deacetylase inhibitors: discovery and development as anticancer agentsQ34470150
Inhibition of c-erbA mRNA splicing by a naturally occurring antisense RNA.Q34507857
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.Q34542422
Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cellsQ34575655
Activating gene expression in mammalian cells with promoter-targeted duplex RNAsQ34607180
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individualsQ34699372
Control of developmental timing by micrornas and their targetsQ34762490
DNA methylation status is inversely correlated with green tea intake and physical activity in gastric cancer patientsQ34930032
Diagnosis and treatment of Friedreich ataxia: a European perspectiveQ34974299
DNA methyltransferase inhibitors-state of the art.Q34990742
Comprehensive DNA methylation analysis of human peripheral blood leukocytes and lymphoblastoid cell linesQ35001966
The molecular basis of Friedreich ataxia.Q35075287
Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers.Q35481748
Histone lysine methylation: a signature for chromatin functionQ35571556
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxiaQ35865338
Long intronic GAA repeats causing Friedreich ataxia impede transcription elongationQ36039174
A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitroQ36059529
Epigenetic and chromatin modifiers as targeted therapy of hematologic malignanciesQ36129533
Decitabine in myelodysplastic syndromesQ36193468
Epigenetic therapy of cancer: past, present and futureQ36399557
SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndromeQ36491908
The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse modelQ36566749
Histone deacetylase inhibitors as therapeutics for polyglutamine disordersQ36599926
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutationsQ36658216
Frequent switching of Polycomb repressive marks and DNA hypermethylation in the PC3 prostate cancer cell lineQ36861718
Dnmt1 deficiency promotes CAG repeat expansion in the mouse germlineQ36939612
Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxiaQ36959663
HDAC inhibitors: a potential new category of anti-tumor agents.Q36988435
DNA triplexes and Friedreich ataxiaQ37062600
Inhibition of DNA methylation by antisense oligonucleotide MG98 as cancer therapyQ37083755
Molecular mechanisms of green tea polyphenolsQ37161937
Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndromeQ37203166
Epigenetic therapy of leukemia: An updateQ37307226
A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndromeQ37417853
Silencing chromatin: comparing modes and mechanismsQ37827337
The long non-coding RNAs, a new cancer diagnostic and therapeutic gold mineQ38045210
Frataxin gene point mutations in Italian Friedreich ataxia patientsQ38299137
Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene.Q38318863
The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosisQ38328542
miR-886-3p levels are elevated in Friedreich ataxia.Q39319502
Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cellsQ39409253
P275copyright licenseCreative Commons Attribution 3.0 UnportedQ14947546
P6216copyright statuscopyrightedQ50423863
P921main subjectFriedreich ataxiaQ913856
P304page(s)852080
P577publication date2013-02-19
P1433published inGenetics Research InternationalQ26842364
P1476titleEpigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy
P478volume2013

Reverse relations

cites work (P2860)
Q39793086A Potential New Therapeutic Approach for Friedreich Ataxia: Induction of Frataxin Expression With TALE Proteins
Q35802894A new cellular model to follow Friedreich's ataxia development in a time-resolved way.
Q35144024A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia
Q55427035Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model.
Q98735793Circulating Cell-Free Nucleic Acids as Epigenetic Biomarkers in Precision Medicine
Q92488515Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia
Q38219414Epigenetic-based therapies for Friedreich ataxia
Q27010153Epigenetics of Alzheimer's disease and frontotemporal dementia
Q37686297Fixing frataxin: 'ironing out' the metabolic defect in Friedreich's ataxia
Q34984786Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus
Q37485501Friedreich ataxia: metal dysmetabolism in dorsal root ganglia
Q38160224Friedreich's ataxia, frataxin, PIP5K1B: echo of a distant fracas.
Q28540063Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models
Q40533450Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts
Q58051863Stratifying Heterogeneous Dimension of Neurodegenerative Diseases: Intervention for Stipulating Epigenetic Factors to Combat Oxidative Stress in Human Brain
Q59798711The Epigenetics of Alzheimer’s Disease: Factors and Therapeutic Implications
Q92834673The time dimension of neurodegeneration: the example of Friedreich's ataxia

Search more.