SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. - Wikidata - wikimedia - TriplyDB

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.

http://www.wikidata.org/entity/Q34083719

about

Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]UgMicroSatdb: database for mining microsatellites from unigenes Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.Mouse models of polyglutamine diseases: review and data table. Part I Integration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxia Current understanding of the role of microRNAs in spinocerebellar ataxias Large Polyglutamine Repeats Cause Muscle Degeneration in SCA17 Mice.Silencing mutant ataxin-3 rescues motor deficits and neuropathology in Machado-Joseph disease transgenic mice Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy Parkinsonism in spinocerebellar ataxia The promise and perils of HDAC inhibitors in neurodegeneration Molecular mechanism of monoamine oxidase A gene regulation under inflammation and ischemia-like conditions: key roles of the transcription factors GATA2, Sp1 and TBP Polyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicity Deletion of the triplet repeat encoding polyglutamine within the mouse Huntington's disease gene results in subtle behavioral/motor phenotypes in vivo and elevated levels of ATP with cellular senescence in vitro Role of high mobility group box 1 (HMGB1) in SCA17 pathogenesis Ataxia and Purkinje cell degeneration in mice lacking the CAMTA1 transcription factor Targeting several CAG expansion diseases by a single antisense oligonucleotide PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats Therapeutic prospects for spinocerebellar ataxia type 2 and 3.CAG-encoded polyglutamine length polymorphism in the human genome HAP1 can sequester a subset of TBP in cytoplasmic inclusions via specific interaction with the conserved TBP(CORE).A role for voltage-dependent anion channel Vdac1 in polyglutamine-mediated neuronal cell death.Monomeric, oligomeric and polymeric proteins in huntington disease and other diseases of polyglutamine expansion Oligonucleotide-based strategies to combat polyglutamine diseases.CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study.Histone deacetylase inhibitors reduce polyglutamine toxicity Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.ZMIZ1 preferably enhances the transcriptional activity of androgen receptor with short polyglutamine tract.Role of the CCAAT-binding protein NFY in SCA17 pathogenesis Brain pathology of spinocerebellar ataxias.Indole and synthetic derivative activate chaperone expression to reduce polyQ aggregation in SCA17 neuronal cell and slice culture models.Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons.Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.Pathogenic polyglutamine expansion length correlates with polarity of the flanking sequences.Neurological proteins are not enriched for repetitive sequences.Huntington's disease: revisiting the aggregation hypothesis in polyglutamine neurodegenerative diseases.Population-based study of acquired cerebellar ataxia in Al-Kharga district, New Valley, Egypt Computational neurobiology is a useful tool in translational neurology: the example of ataxia

P2860

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P2860

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.

http://www.wikidata.org/entity/Q34083719

description

2001 nî lūn-bûn

@nan

2001 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի հուլիսին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年论文

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name

SCA17, a novel autosomal domin ...... amine in TATA-binding protein.

@ast

SCA17, a novel autosomal domin ...... amine in TATA-binding protein.

@en

SCA17, a novel autosomal domin ...... amine in TATA-binding protein.

@nl

type

label

SCA17, a novel autosomal domin ...... amine in TATA-binding protein.

@ast

SCA17, a novel autosomal domin ...... amine in TATA-binding protein.

@en

SCA17, a novel autosomal domin ...... amine in TATA-binding protein.

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prefLabel

SCA17, a novel autosomal domin ...... amine in TATA-binding protein.

@ast

SCA17, a novel autosomal domin ...... amine in TATA-binding protein.

@en

SCA17, a novel autosomal domin ...... amine in TATA-binding protein.

@nl

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P1433

Human Molecular Genetics

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SCA17, a novel autosomal domin ...... amine in TATA-binding protein.

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Anno M

http://www.w3.org/2001/XMLSchema#string

Ikeda S

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Jeong SY

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Kanazawa I

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Nagashima K

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Nagashima T

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Nakamura K

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Tsuji S

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Uchihara T

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1441-1448

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scholarly article

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10.1093/HMG/10.14.1441

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14

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10

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2001-07-01T00:00:00Z

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11892563

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11448935

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