Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. - Test2 - elhamkhani - TriplyDB

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

http://www.wikidata.org/entity/Q34405231

about

Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7 Cleavage of atrophin-1 at caspase site aspartic acid 109 modulates cytotoxicity Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function Cloning and characterization of a family of proteins associated with Mpl Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?Ataxin-2-like is a regulator of stress granules and processing bodies Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death Duplication of a genomic region containing the Cdc2L1-2 and MMP21-22 genes on human chromosome 1p36.3 and their linkage to D1Z2 Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.A Drosophila homolog of the polyglutamine disease gene SCA2 is a dosage-sensitive regulator of actin filament formation Physio-pathological roles of transglutaminase-catalyzed reactions Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1 dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1 TDP-43 aggregation in neurodegeneration: are stress granules the key?Motor Dysfunctions and Neuropathology in Mouse Models of Spinocerebellar Ataxia Type 2: A Comprehensive Review Drosophila as an In Vivo Model for Human Neurodegenerative Disease Isolation and characterization of novel CAG repeat containing genes expressed in human brain HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy 12q24 locus association with type 1 diabetes: SH2B3 or ATXN2?Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death Therapeutic prospects for spinocerebellar ataxia type 2 and 3.Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1 Sequence analysis of trinucleotide repeat microsatellites from an enrichment library of the equine genome.CAG-encoded polyglutamine length polymorphism in the human genome Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.Monomeric, oligomeric and polymeric proteins in huntington disease and other diseases of polyglutamine expansion Spinocerebellar Ataxia Type 2 Is Associated with the Extracellular Loss of Superoxide Dismutase but Not Catalase Activity.Oligonucleotide-based strategies to combat polyglutamine diseases.Ataxin-2: From RNA Control to Human Health and Disease Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.Two modes of germline instability at human minisatellite MS1 (locus D1S7): complex rearrangements and paradoxical hyperdeletion.Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.The unstable trinucleotide repeat story of major psychosis.Triplet repeat expansion in neuromuscular disease.

P2860

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P2860

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

http://www.wikidata.org/entity/Q34405231

description

1996 nî lūn-bûn

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1996 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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1996 թվականի նոյեմբերին հրատարակված գիտական հոդված

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1996年の論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

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1996年论文

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name

Identification of the spinocer ...... and cloning technique, DIRECT.

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Identification of the spinocer ...... and cloning technique, DIRECT.

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Identification of the spinocer ...... and cloning technique, DIRECT.

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type

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Identification of the spinocer ...... and cloning technique, DIRECT.

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Identification of the spinocer ...... and cloning technique, DIRECT.

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Identification of the spinocer ...... and cloning technique, DIRECT.

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Identification of the spinocer ...... and cloning technique, DIRECT.

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Identification of the spinocer ...... and cloning technique, DIRECT.

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Identification of the spinocer ...... and cloning technique, DIRECT.

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Nature Genetics

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Identification of the spinocer ...... and cloning technique, DIRECT.

@en

P2093

Eguchi I

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Hanyu S

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Igarashi S

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Ikeuchi T

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Oyake M

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P2860

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

The C. elegans cell death gene ced-3 encodes a protein similar to mammalian interleukin-1 beta-converting enzyme

Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo

Identification and inhibition of the ICE/CED-3 protease necessary for mammalian apoptosis

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.

Mammalian subtilisins: the long-sought dibasic processing endoproteases.

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract.

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias.

Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli.

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277-284

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scholarly article

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10.1038/NG1196-277

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3

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14

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1996-11-01T00:00:00Z

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1042064811

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8896556

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