Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?
about
DNA slip-outs cause RNA polymerase II arrest in vitro: potential implications for genetic instabilitySuppression of Somatic Expansion Delays the Onset of Pathophysiology in a Mouse Model of Huntington’s DiseaseA universal mechanism ties genotype to phenotype in trinucleotide diseasesThe chicken or the egg: mitochondrial dysfunction as a cause or consequence of toxicity in Huntington's diseaseHuntington's diseaseUnusual structures are present in DNA fragments containing super-long Huntingtin CAG repeatsLongitudinal transcriptomic dysregulation in the peripheral blood of transgenic Huntington's disease monkeys.Huntington disease expansion mutations in humans can occur before meiosis is completed.A novel approach to investigate tissue-specific trinucleotide repeat instability.Huntington disease models and human neuropathology: similarities and differencesA selective inhibitor of histone deacetylase 3 prevents cognitive deficits and suppresses striatal CAG repeat expansions in Huntington's disease miceDifferential vulnerability of neurons in Huntington's disease: the role of cell type-specific features.Quantification of age-dependent somatic CAG repeat instability in Hdh CAG knock-in mice reveals different expansion dynamics in striatum and liverXpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1.Mitochondrial calcium uptake capacity as a therapeutic target in the R6/2 mouse model of Huntington's disease.Msh2 acts in medium-spiny striatal neurons as an enhancer of CAG instability and mutant huntingtin phenotypes in Huntington's disease knock-in miceQuantification of mutant huntingtin protein in cerebrospinal fluid from Huntington's disease patients.Defining genetic factors that modulate intergenerational CAG repeat instability in Drosophila melanogasterRole of transcript and interplay between transcription and replication in triplet-repeat instability in mammalian cells.Selective roles of normal and mutant huntingtin in neural induction and early neurogenesisMicrosatellite repeat instability and neurological disease.DNA base excision repair: a mechanism of trinucleotide repeat expansion.Sequence-Level Analysis of the Major European Huntington Disease Haplotype.Repeat instability: mechanisms of dynamic mutations.Knock-in mouse models of Huntington's disease.DNA instability in postmitotic neurons.Animal models of Huntington's disease: implications in uncovering pathogenic mechanisms and developing therapies.Neil1 is a genetic modifier of somatic and germline CAG trinucleotide repeat instability in R6/1 mice.Molecular pathogenesis of spinocerebellar ataxia type 6.Problems and solutions for the analysis of somatic CAG repeat expansion and their relationship to Huntington's disease toxicity.Features of trinucleotide repeat instability in vivo.Extrahelical (CAG)/(CTG) triplet repeat elements support proliferating cell nuclear antigen loading and MutLα endonuclease activationFull-length human mutant huntingtin with a stable polyglutamine repeat can elicit progressive and selective neuropathogenesis in BACHD mice.Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington diseaseSomatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset.Coordination between polymerase beta and FEN1 can modulate CAG repeat expansion.A brief history of triplet repeat diseases.Abnormal base excision repair at trinucleotide repeats associated with diseases: a tissue-selective mechanism.Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age.Current understanding on the pathogenesis of polyglutamine diseases.
P2860
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P2860
Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?
description
2000 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2000
@ast
im Oktober 2000 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2000/10/12)
@sk
vědecký článek publikovaný v roce 2000
@cs
wetenschappelijk artikel (gepubliceerd op 2000/10/12)
@nl
наукова стаття, опублікована в жовтні 2000
@uk
مقالة علمية (نشرت في 12-10-2000)
@ar
name
Dramatic mutation instability ...... ility in Huntington's disease?
@ast
Dramatic mutation instability ...... ility in Huntington's disease?
@en
Dramatic mutation instability ...... ility in Huntington's disease?
@nl
type
label
Dramatic mutation instability ...... ility in Huntington's disease?
@ast
Dramatic mutation instability ...... ility in Huntington's disease?
@en
Dramatic mutation instability ...... ility in Huntington's disease?
@nl
prefLabel
Dramatic mutation instability ...... ility in Huntington's disease?
@ast
Dramatic mutation instability ...... ility in Huntington's disease?
@en
Dramatic mutation instability ...... ility in Huntington's disease?
@nl
P921
P356
P1476
Dramatic mutation instability ...... ility in Huntington's disease?
@en
P2093
L. Kennedy
P. F. Shelbourne
P304
P356
10.1093/HMG/9.17.2539
P577
2000-10-12T00:00:00Z