(Q46303860)

21 December 2017

title

Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3). (English)

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21 December 2017

main subject

Machado-Joseph disease

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3

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21 December 2017

Patricia Maciel

10

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21 December 2017

Manuela Lima

11

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21 December 2017

Maria do Carmo Costa

Maria do Carmo Costa

4

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Nelson Simões

Nelson Simões

7

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Cristina Santos

Cristina Santos

2

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Pablo Cruz-Morales

Pablo Cruz-Morales

5

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author name string

Conceição Bettencourt

1

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21 December 2017

Liliana Ribeiro Santos

6

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21 December 2017

Teresa Kay

8

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21 December 2017

João Vasconcelos

9

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21 December 2017

publication date

28 August 2009

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21 December 2017

published in

Neurogenetics

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21 December 2017

volume

11

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21 December 2017

issue

2

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21 December 2017

page(s)

193-202

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21 December 2017

https://scigraph.springernature.com/pub.10.1007/s10048-009-0216-y

exact match

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cites work

Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions

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Crossref

https://api.crossref.org/works/10.1007%2FS10048-009-0216-Y

Improvement in the molecular diagnosis of Machado-Joseph disease

21 January 2018

1 reference

12 December 2020

Structural and functional analysis of ataxin-2 and ataxin-3.

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12 December 2020

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

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12 December 2020

Nonsense-mediated mRNA decay in mammals

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12 December 2020

CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation

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12 December 2020

Cell-type-specific alternative splicing in spinocerebellar ataxia type 6.

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12 December 2020

How prevalent is functional alternative splicing in the human genome?

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12 December 2020

Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cells

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12 December 2020

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

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12 December 2020

Evaluation of comparative protein modeling by MODELLER

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12 December 2020

Ataxin-3 is a histone-binding protein with two independent transcriptional corepressor activities

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12 December 2020

Human branch point consensus sequence is yUnAy

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12 December 2020

Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3.

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12 December 2020

Josephin domain-containing proteins from a variety of species are active de-ubiquitination enzymes.

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12 December 2020

The genomic structure and expression of MJD, the Machado-Joseph disease gene

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12 December 2020

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

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12 December 2020

Ataxin-3 is subject to autolytic cleavage.

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12 December 2020

Frequent occurrence of protein isoforms with or without a single amino acid residue by subtle alternative splicing: the case of Gln in DRPLA affects subcellular localization of the products

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12 December 2020

Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts

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12 December 2020

ASPIC: a web resource for alternative splicing prediction and transcript isoforms characterization

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12 December 2020

AltTrans: transcript pattern variants annotated for both alternative splicing and alternative polyadenylation.

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12 December 2020

Amino acid repeat patterns in protein sequences: their diversity and structural-functional implications

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12 December 2020

Ataxin-3 suppresses polyglutamine neurodegeneration in Drosophila by a ubiquitin-associated mechanism.

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12 December 2020

Identification of alternative splicing of spinocerebellar ataxia type 2 gene.

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12 December 2020

SCA3: neurological features, pathogenesis and animal models

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12 December 2020

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

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12 December 2020

Mechanisms of alternative pre-messenger RNA splicing

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12 December 2020

A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product.

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12 December 2020

Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1.

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12 December 2020

Cellular turnover of the polyglutamine disease protein ataxin-3 is regulated by its catalytic activity

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12 December 2020

Correlation between CAG repeat length and clinical features in Machado-Joseph disease

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12 December 2020

Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1.

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12 December 2020

Towards a structural understanding of the fibrillization pathway in Machado-Joseph's disease: trapping early oligomers of non-expanded ataxin-3.

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12 December 2020

A genomic and functional inventory of deubiquitinating enzymes

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12 December 2020

Multiple protein sequence alignment from tertiary structure comparison: assignment of global and residue confidence levels

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12 December 2020

Widespread and subtle: alternative splicing at short-distance tandem sites

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12 December 2020

A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentration.

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12 December 2020

10.1007/S10048-009-0216-Y

Identifiers

DOI

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21 December 2017

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21 December 2017