(Q41527072)

2 October 2017

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title

The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis (English)

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2 October 2017

2

Zoghbi HY

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2 October 2017

Koshy BT

1

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2 October 2017

publication date

1 July 1997

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2 October 2017

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2 October 2017

volume

7

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2 October 2017

issue

3

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2 October 2017

page(s)

927-942

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Genetics and molecular biology of Huntington's disease

2 October 2017

cites work

1 reference

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

21 January 2018

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A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure

21 January 2018

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CAG expansion affects the expression of mutant Huntingtin in the Huntington's disease brain

21 January 2018

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Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb.

21 January 2018

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Identification and characterization of the gene causing type 1 spinocerebellar ataxia

21 January 2018

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Expansion of polyglutamine repeat in huntingtin leads to abnormal protein interactions involving calmodulin

21 January 2018

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A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene

21 January 2018

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Morphometric studies in dominant olivopontocerebellar atrophy. Comparison of cell losses with amino acid decreases

21 January 2018

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Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy

21 January 2018

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Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH.

21 January 2018

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The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family

21 January 2018

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SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

21 January 2018

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Structural analysis of complementary DNA and amino acid sequences of human and rat androgen receptors

21 January 2018

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Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.

21 January 2018

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Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

21 January 2018

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Mutation analysis in patients with possible but apparently sporadic Huntington's disease

21 January 2018

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Subcellular localization of the Huntington's disease gene product in cell lines by immunofluorescence and biochemical subcellular fractionation

21 January 2018

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Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons

21 January 2018

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Diagnosis of "sporadic" Huntington's disease

21 January 2018

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Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features

21 January 2018

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Trinucleotide repeat length instability and age of onset in Huntington's disease

21 January 2018

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Inactivation of the mouse Huntington's disease gene homolog Hdh

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Suicide and attempted suicide in Huntington disease: implications for preclinical testing of persons at risk

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Predictability of phenotype in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Molecular genetics of Huntington's disease

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

A polymorphic DNA marker genetically linked to Huntington's disease

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Characterization and localization of the Huntington disease gene product

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Anticipation in myotonic dystrophy: fact or fiction?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Evidence from antibody studies that the CAG repeat in the Huntington disease gene is expressed in the protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

21 January 2018

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Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Huntington's disease gene (IT15) is widely expressed in human and rat tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

A huntingtin-associated protein enriched in brain with implications for pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

De novo expansion of a (CAG)n repeat in sporadic Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Late-onset X-linked recessive spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

A transcription map of the region containing the Huntington disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

When more is less: pathogenesis of glutamine repeat neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Androgen concentration in motor neurons of cranial nerves and spinal cord

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Widespread expression of Huntington's disease gene (IT15) protein product

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Primary structure of a calcium channel that is highly expressed in the rat cerebellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Localization and functional properties of a rat brain alpha 1A calcium channel reflect similarities to neuronal Q- and P-type channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

The gene for Machado-Joseph disease maps to human chromosome 14q

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

DNA End Labeling (TUNEL) in Huntington's Disease and Other Neuropathological Conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Partial characterisation of murine huntingtin and apparent variations in the subcellular localisation of huntingtin in human, mouse and rat brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Abnormal gene product identified in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Distinctive pharmacology and kinetics of cloned neuronal Ca2+ channels and their possible counterparts in mammalian CNS neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

The expanding world of ataxins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Cloning of the Huntington disease region in yeast artificial chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00894.X

10.1111/J.1750-3639.1997.TB00894.X

21 January 2018

Identifiers

DOI

1 reference

2 October 2017

1 reference