The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease - Wikidata - awgldk - TriplyDB

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

http://www.wikidata.org/entity/Q28264134

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Ubiquitin-proteasome system involvement in Huntington's disease A human HAP1 homologue. Cloning, expression, and interaction with huntingtin Huntingtin-associated protein (HAP1): discrete neuronal localizations in the brain resemble those of neuronal nitric oxide synthase Intracellular degradation of misfolded proteins in polyglutamine neurodegenerative diseases Exendin-4 improves glycemic control, ameliorates brain and pancreatic pathologies, and extends survival in a mouse model of Huntington's disease Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease Integrative annotation of 21,037 human genes validated by full-length cDNA clones Association of Huntington's disease and schizophrenia-like psychosis in a Huntington's disease pedigree.Epigenetics and Triplet-Repeat Neurological Diseases CRISPR/Cas9: a powerful genetic engineering tool for establishing large animal models of neurodegenerative diseases Astrocytes: the missing link in neurologic disease?Modeling Huntington's disease with induced pluripotent stem cells Genetics and neuropathology of Huntington's disease Lessons learned from the transgenic Huntington's disease rats Disease-toxicant interactions in manganese exposed Huntington disease mice: early changes in striatal neuron morphology and dopamine metabolism Suppression of Somatic Expansion Delays the Onset of Pathophysiology in a Mouse Model of Huntington’s Disease Multivariate clustering of progression profiles reveals different depression patterns in prodromal Huntington disease.Novel polyglutamine model uncouples proteotoxicity from aging Continuous and periodic expansion of CAG repeats in Huntington's disease R6/1 mice The struggle by Caenorhabditis elegans to maintain proteostasis during aging and disease The paternal genome and the health of the assisted reproductive technology child CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)Normal huntingtin function: an alternative approach to Huntington's disease Cell biology. Metabolic control of cell death SIRT2 ablation has no effect on tubulin acetylation in brain, cholesterol biosynthesis or the progression of Huntington's disease phenotypes in vivo Aggregation of polyQ proteins is increased upon yeast aging and affected by Sir2 and Hsf1: novel quantitative biochemical and microscopic assays Characterization of HTT inclusion size, location, and timing in the zQ175 mouse model of Huntington's disease: an in vivo high-content imaging study Dominant-Negative Effects of Adult-Onset Huntingtin Mutations Alter the Division of Human Embryonic Stem Cells-Derived Neural Cells A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice Onset and progression of behavioral and molecular phenotypes in a novel congenic R6/2 line exhibiting intergenerational CAG repeat stability.Inhibition of the striatal specific phosphodiesterase PDE10A ameliorates striatal and cortical pathology in R6/2 mouse model of Huntington's disease Probing protein aggregation using discrete molecular dynamics In silico discovery and experimental validation of new protein-protein interactions The threshold for polyglutamine-expansion protein aggregation and cellular toxicity is dynamic and influenced by aging in Caenorhabditis elegans Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.

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The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

http://www.wikidata.org/entity/Q28264134

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1993 nî lūn-bûn

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1993 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

1993 թվականի օգոստոսին հրատարակված գիտական հոդված

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1993年の論文

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1993年学术文章

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1993年学术文章

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1993年学术文章

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1993年学术文章

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The relationship between trinu ...... atures of Huntington's disease

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The relationship between trinu ...... atures of Huntington's disease

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The relationship between trinu ...... atures of Huntington's disease

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Nature Genetics

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The relationship between trinu ...... atures of Huntington's disease

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B Kremer

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

B Lin

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

E Starr

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

H Telenius

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J Theilmann

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M A Kalchman

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S E Andrew

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Y P Goldberg

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P2860

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

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

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

Dynamic mutations: a new class of mutations causing human disease.

Questions of expansion.

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398-403

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4171688

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10.1038/NG0893-398

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4

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4

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Ferdinando Squitieri

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1993-08-01T00:00:00Z

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14796898

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8401589

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Huntington disease