Repeat expansion disease: progress and puzzles in disease pathogenesis
about
Is junk DNA bunk? A critique of ENCODETo Know How a Gene Works, We Need to Redefine It First but then, More Importantly, to Let the Cell Itself Decide How to Transcribe and Process Its RNAsStructural studies of CNG repeatsCytosine modifications in neurodevelopment and diseasesStructure based approaches for targeting non-coding RNAs with small moleculesConverging mechanisms in ALS and FTD: disrupted RNA and protein homeostasisNeuronal RNA-binding proteins in health and diseaseAutophagy in polyglutamine disease: Imposing order on disorder or contributing to the chaos?The unstable repeats--three evolving faces of neurological diseaseTwisting right to left: A…A mismatch in a CAG trinucleotide repeat overexpansion provokes left-handed Z-DNA conformationAtomic resolution structure of CAG RNA repeats: structural insights and implications for the trinucleotide repeat expansion diseasesMolecular genetics and genetic testing in myotonic dystrophy type 1.C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseasesProtein misfolding and aggregation in Alzheimer's disease and type 2 diabetes mellitusRNA phase transitions in repeat expansion disorders.Evolutionary pressures on simple sequence repeats in prokaryotic coding regions.CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense noncoding RNA.Axon injury and stress trigger a microtubule-based neuroprotective pathway.PGC-1α rescues Huntington's disease proteotoxicity by preventing oxidative stress and promoting TFEB function.An miRNA-mediated therapy for SCA6 blocks IRES-driven translation of the CACNA1A second cistronTargeting toxic RNAs that cause myotonic dystrophy type 1 (DM1) with a bisamidinium inhibitor.Large-scale analysis of tandem repeat variability in the human genomeConvergent transcription through a long CAG tract destabilizes repeats and induces apoptosisC9orf72 nucleotide repeat structures initiate molecular cascades of disease.Bovine proteins containing poly-glutamine repeats are often polymorphic and enriched for components of transcriptional regulatory complexes.Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities!Muscle expression of mutant androgen receptor accounts for systemic and motor neuron disease phenotypes in spinal and bulbar muscular atrophyInterrogating the "unsequenceable" genomic trinucleotide repeat disorders by long-read sequencingTopoisomerase 1 and single-strand break repair modulate transcription-induced CAG repeat contraction in human cells.TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97.The ubiquitin-proteasome system in neurodegenerative diseases: precipitating factor, yet part of the solutionXpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1.An evaluation of oligonucleotide-based therapeutic strategies for polyQ diseasesRNA-protein interactions in unstable microsatellite diseases.Polyglutamine toxicity is controlled by prion composition and gene dosage in yeast.Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA.Huntingtin protein interactions altered by polyglutamine expansion as determined by quantitative proteomic analysis.Ascertainment bias causes false signal of anticipation in genetic prion diseaseUbiquitous expression of CUG or CAG trinucleotide repeat RNA causes common morphological defects in a Drosophila model of RNA-mediated pathologyDifferential nuclear localization of complexes may underlie in vivo intrabody efficacy in Huntington's disease.
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Repeat expansion disease: progress and puzzles in disease pathogenesis
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on April 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Repeat expansion disease: progress and puzzles in disease pathogenesis
@en
Repeat expansion disease: progress and puzzles in disease pathogenesis.
@nl
type
label
Repeat expansion disease: progress and puzzles in disease pathogenesis
@en
Repeat expansion disease: progress and puzzles in disease pathogenesis.
@nl
prefLabel
Repeat expansion disease: progress and puzzles in disease pathogenesis
@en
Repeat expansion disease: progress and puzzles in disease pathogenesis.
@nl
P2860
P356
P1476
Repeat expansion disease: progress and puzzles in disease pathogenesis
@en
P2093
Albert R La Spada
P2860
P2888
P304
P356
10.1038/NRG2748
P577
2010-04-01T00:00:00Z