(Q34185510)

31 July 2017

1 reference

title

Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease (English)

1 reference

31 July 2017

1 reference

1

Gusella JF

1 reference

31 July 2017

MacDonald ME

2

1 reference

PubMed ID

11252773

31 July 2017

language of work or name

English

0 references

publication date

1 November 2000

1 reference

Nature Reviews Neuroscience

31 July 2017

1 reference

31 July 2017

1

1 reference

31 July 2017

2

1 reference

31 July 2017

109-115

1 reference

https://scigraph.springernature.com/pub.10.1038/35039051

31 July 2017

0 references

cites work

Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.

1 reference

7 January 2021

1 reference

7 January 2021

Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population.

1 reference

7 January 2021

Homozygous inheritance of the Machado-Joseph disease gene

1 reference

7 January 2021

Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation.

1 reference

7 January 2021

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

1 reference

7 January 2021

Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?

1 reference

7 January 2021

Homozygosity for Machado-Joseph disease gene enhances phenotypic severity

1 reference

7 January 2021

A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene

1 reference

7 January 2021

Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)

1 reference

7 January 2021

Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes

1 reference

7 January 2021

Relationship between trinucleotide repeats and neuropathological changes in Huntington's disease

1 reference

7 January 2021

CAG repeat number governs the development rate of pathology in Huntington's disease

1 reference

7 January 2021

Trinucleotide repeat length and progression of illness in Huntington's disease

1 reference

7 January 2021

Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo

1 reference

7 January 2021

Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins

1 reference

7 January 2021

Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases

1 reference

7 January 2021

Bioenergetics in Huntington's disease

1 reference

7 January 2021

A molecular investigation of true dominance in Huntington's disease

1 reference

7 January 2021

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

1 reference

7 January 2021

The influence of huntingtin protein size on nuclear localization and cellular toxicity.

1 reference

7 January 2021

Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice.

1 reference

7 January 2021

A cellular model that recapitulates major pathogenic steps of Huntington's disease

1 reference

7 January 2021

Mutant huntingtin forms in vivo complexes with distinct context-dependent conformations of the polyglutamine segment

1 reference

7 January 2021

Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions.

1 reference

7 January 2021

Truncated N-terminal fragments of huntingtin with expanded glutamine repeats form nuclear and cytoplasmic aggregates in cell culture.

1 reference

7 January 2021

Mutant huntingtin expression in clonal striatal cells: dissociation of inclusion formation and neuronal survival by caspase inhibition.

1 reference

7 January 2021

Adenovirus-mediated expression of mutant DRPLA proteins with expanded polyglutamine stretches in neuronally differentiated PC12 cells. Preferential intranuclear aggregate formation and apoptosis.

1 reference

7 January 2021

Motoneuronal cell death is not correlated with aggregate formation of androgen receptors containing an elongated polyglutamine tract

1 reference

7 January 2021

Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1.

1 reference

7 January 2021

Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice.

1 reference

7 January 2021

Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro

1 reference

7 January 2021

Polyglutamine-expanded androgen receptors form aggregates that sequester heat shock proteins, proteasome components and SRC-1, and are suppressed by the HDJ-2 chaperone

1 reference

7 January 2021

Effects of heat shock, heat shock protein 40 (HDJ-2), and proteasome inhibition on protein aggregation in cellular models of Huntington's disease

1 reference

7 January 2021

Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation

1 reference

7 January 2021

Mice transgenic for an expanded CAG repeat in the Huntington's disease gene develop diabetes

1 reference

7 January 2021

Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease

1 reference

7 January 2021

Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain

1 reference

7 January 2021

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

1 reference

7 January 2021

Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice

1 reference

7 January 2021

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

1 reference

7 January 2021

Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA.

1 reference

7 January 2021

Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients.

1 reference

7 January 2021

Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA.

1 reference

7 January 2021

A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration.

1 reference

7 January 2021

Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus

1 reference

7 January 2021

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse

1 reference

7 January 2021

A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice

1 reference

7 January 2021

Impaired synaptic plasticity in mice carrying the Huntington's disease mutation

1 reference

7 January 2021

Decrease in striatal enkephalin mRNA in mouse models of Huntington's disease

1 reference

7 January 2021

Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice

1 reference

7 January 2021

Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease

1 reference

7 January 2021

Inhibition of huntingtin fibrillogenesis by specific antibodies and small molecules: implications for Huntington's disease therapy

1 reference

7 January 2021

Inhibition of polyglutamine protein aggregation and cell death by novel peptides identified by phage display screening

1 reference

7 January 2021

Caspases and neurodegeneration: on the cutting edge of new therapeutic approaches.

1 reference

7 January 2021

Polyglutamine aggregates alter protein folding homeostasis in Caenorhabditis elegans

1 reference

7 January 2021

Chaperones Hsp70 and Hsp40 suppress aggregate formation and apoptosis in cultured neuronal cells expressing truncated androgen receptor protein with expanded polyglutamine tract

1 reference

7 January 2021

Aggregation of huntingtin in yeast varies with the length of the polyglutamine expansion and the expression of chaperone proteins

1 reference

7 January 2021

Genetic suppression of polyglutamine toxicity in Drosophila

1 reference

7 January 2021

Suppression of polyglutamine-mediated neurodegeneration in Drosophila by the molecular chaperone HSP70.

1 reference

7 January 2021

Hsp70 and hsp40 chaperones can inhibit self-assembly of polyglutamine proteins into amyloid-like fibrils

1 reference

7 January 2021

Safety and tolerability assessment of intrastriatal neural allografts in five patients with Huntington's disease

1 reference

7 January 2021

Induction of neurogenesis in the neocortex of adult mice

1 reference

7 January 2021

Delaying the onset of Huntington's in mice

1 reference

7 January 2021

Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease

1 reference

7 January 2021

Neuroprotective effects of creatine in a transgenic mouse model of Huntington's disease.

1 reference

7 January 2021

Epidermal immunization by a needle-free powder delivery technology: Immunogenicity of influenza vaccine and protection in mice

1 reference

7 January 2021

Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons.

1 reference

7 January 2021

Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila.

1 reference

7 January 2021

Polyglutamine-mediated dysfunction and apoptotic death of a Caenorhabditis elegans sensory neuron

1 reference

7 January 2021

Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila

1 reference

7 January 2021

Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease

1 reference

7 January 2021

Evidence for the GluR6 gene associated with younger onset age of Huntington's disease

1 reference

7 January 2021

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds

1 reference

7 January 2021

Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6.

1 reference

7 January 2021

Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion

1 reference

7 January 2021

Spinocerebellar ataxia type 2 in seven Korean families: CAG trinucleotide expansion and clinical characteristics

1 reference

7 January 2021

Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission

1 reference

7 January 2021

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

1 reference

7 January 2021

Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation

1 reference

7 January 2021

Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype

1 reference

7 January 2021

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation

1 reference

7 January 2021

Spinocerebellar ataxia type 7 (SCA7) - correlations between phenotype and genotype in one large Belgian family.

1 reference

7 January 2021

Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy

1 reference

7 January 2021

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

1 reference

7 January 2021

X-linked recessive bulbospinal neuronopathy: clinical phenotypes and CAG repeat size in androgen receptor gene

1 reference

7 January 2021

Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families

1 reference

7 January 2021

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

1 reference

7 January 2021

SCA2 trinucleotide expansion in German SCA patients

1 reference

7 January 2021

Identifiers

DOI

10.1038/35039051

1 reference

PubMed ID

11252773

Dimensions Publication ID

31 July 2017

0 references

1 reference

PubMed ID

11252773