(Q48644018)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9292723%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9292723%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

main subject

spinocerebellar ataxia

1 reference

3

1 reference

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6 November 2019

author name string

H L Paulson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9292723%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

M K Perez

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9292723%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

J Q Trojanowski

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9292723%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

S H Subramony

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9292723%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

S S Das

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9292723%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

P Vig

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9292723%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

J L Mandel

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9292723%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

K H Fischbeck

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9292723%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

R N Pittman

10

1 reference

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6 November 2019

language of work or name

English

0 references

publication date

1 August 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9292723%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9292723%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

19

1 reference

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6 November 2019

issue

2

1 reference

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6 November 2019

page(s)

333-344

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Expanded glutamines and neurodegeneration--a gain of insight

6 November 2019

cites work

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

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Intranuclear inclusions in oculopharyngeal muscular dystrophy among Bukhara Jews

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7 January 2021

Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH.

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

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A kinetic model for amyloid formation in the prion diseases: importance of seeding

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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Neuronal intranuclear hyaline inclusion disease in a nine year old.

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

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7 January 2021

Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism

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7 January 2021

Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies

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7 January 2021

Gain of glutamines, gain of function?

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7 January 2021

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

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7 January 2021

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

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7 January 2021

The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27.

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7 January 2021

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

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7 January 2021

Peptides containing glutamine repeats as substrates for transglutaminase-catalyzed cross-linking: relevance to diseases of the nervous system

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

An expanded CAG repeat sequence in spinocerebellar ataxia type 7

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7 January 2021

Ubiquitin in neurodegenerative diseases

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7 January 2021

Huntington's disease: translating a CAG repeat into a pathogenic mechanism

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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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Immunohistochemical distribution and electron microscopic subcellular localization of the proteasome in the rat CNS.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Neurofilament subunit-related proteins in neuronal intranuclear inclusions

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7 January 2021

Trinucleotide repeats in neurogenetic disorders

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7 January 2021

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

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7 January 2021

Glutamine repeats and inherited neurodegenerative diseases: molecular aspects

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Incorporation of glutamine repeats makes protein oligomerize: implications for neurodegenerative diseases

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7 January 2021

A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Joseph's disease: clinical and pathological studies in a Japanese family

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7 January 2021

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

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7 January 2021

The expanding world of ataxins

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7 January 2021

10.1016/S0896-6273(00)80943-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9292723%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference