(Q31152886)

29 June 2017

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title

SCA3: neurological features, pathogenesis and animal models (English)

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29 June 2017

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5

Ludger Schöls

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29 June 2017

3

Annalisa Pastore

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29 June 2017

1

Olaf Riess

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29 June 2017

Udo Rüb

2

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29 June 2017

Peter Bauer

series ordinal

4

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29 June 2017

publication date

1 January 2008

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29 June 2017

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29 June 2017

volume

7

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29 June 2017

issue

2

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29 June 2017

page(s)

125-137

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https://scigraph.springernature.com/pub.10.1007/s12311-008-0013-4

29 June 2017

exact match

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cites work

VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration

1 reference

12 December 2020

YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit.

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12 December 2020

Binding of chloromethyl ketone substrate analogues to crystalline papain

1 reference

12 December 2020

An arginine/lysine-rich motif is crucial for VCP/p97-mediated modulation of ataxin-3 fibrillogenesis

1 reference

12 December 2020

Machado-Joseph disease: an autosomal dominant motor system degeneration

1 reference

12 December 2020

Regional and cellular expression of the Machado-Joseph disease gene in brains of normal and affected individuals.

1 reference

12 December 2020

Deubiquitinating function of ataxin-3: insights from the solution structure of the Josephin domain

1 reference

12 December 2020

Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts

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12 December 2020

The crystal structure of Pseudomonas avirulence protein AvrPphB: A papain-like fold with a distinct substrate-binding site

1 reference

12 December 2020

Homozygous inheritance of the Machado-Joseph disease gene

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12 December 2020

Recruitment and the role of nuclear localization in polyglutamine-mediated aggregation

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12 December 2020

Degeneration of ingestion-related brainstem nuclei in spinocerebellar ataxia type 2, 3, 6 and 7.

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12 December 2020

Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany

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12 December 2020

Different origins of mutations at the Machado-Joseph locus (MJD1)

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12 December 2020

Thalamic involvement in a spinocerebellar ataxia type 2 (SCA2) and a spinocerebellar ataxia type 3 (SCA3) patient, and its clinical relevance

1 reference

12 December 2020

Regulation of retrotranslocation by p97-associated deubiquitinating enzyme ataxin-3

1 reference

12 December 2020

A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease

1 reference

12 December 2020

The solution structure of the Josephin domain of ataxin-3: structural determinants for molecular recognition

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12 December 2020

Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1.

1 reference

12 December 2020

Structure validation of the Josephin domain of ataxin-3: conclusive evidence for an open conformation.

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12 December 2020

Involvement of the cranial nerves and their nuclei in spinocerebellar ataxia type 2 (SCA2).

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12 December 2020

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

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12 December 2020

Dopaminergic response in Parkinsonian phenotype of Machado-Joseph disease

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12 December 2020

Positron emission tomography in asymptomatic gene carriers of Machado-Joseph disease

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12 December 2020

Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: Confirmation of 14q CAG expansion

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12 December 2020

Epidemiology and clinical aspects of Machado-Joseph disease.

1 reference

12 December 2020

Binding surface mapping of intra- and interdomain interactions among hHR23B, ubiquitin, and polyubiquitin binding site 2 of S5a

1 reference

12 December 2020

Polyglutamine aggregation behavior in vitro supports a recruitment mechanism of cytotoxicity

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12 December 2020

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

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12 December 2020

Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene

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12 December 2020

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

1 reference

12 December 2020

Spinocerebellar ataxia type 7 (SCA7): first report of a systematic neuropathological study of the brain of a patient with a very short expanded CAG-repeat

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12 December 2020

Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD)

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12 December 2020

Caspase-mediated proteolysis of the polyglutamine disease protein ataxin-3.

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12 December 2020

Muscle cramp in Machado-Joseph disease: altered motor axonal excitability properties and mexiletine treatment

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12 December 2020

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

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12 December 2020

The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size

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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

Domain architecture of the polyglutamine protein ataxin-3: a globular domain followed by a flexible tail

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12 December 2020

Repeat length and disease progression in spinocerebellar ataxia type 3

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12 December 2020

An expanded glutamine repeat destabilizes native ataxin-3 structure and mediates formation of parallel beta -fibrils.

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12 December 2020

Ataxin-3 interactions with rad23 and valosin-containing protein and its associations with ubiquitin chains and the proteasome are consistent with a role in ubiquitin-mediated proteolysis

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12 December 2020

The effects of the polyglutamine repeat protein ataxin-1 on the UbL-UBA protein A1Up

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12 December 2020

Extended pathoanatomical studies point to a consistent affection of the thalamus in spinocerebellar ataxia type 2.

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12 December 2020

Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)

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12 December 2020

The spinocerebellar ataxias

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12 December 2020

Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.

1 reference

12 December 2020

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

1 reference

12 December 2020

Dopamine transporter positron emission tomography in spinocerebellar ataxias type 1, 2, 3, and 6.

1 reference

12 December 2020

A linear lattice model for polyglutamine in CAG-expansion diseases

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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

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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12 December 2020

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

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12 December 2020

Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

1 reference

12 December 2020

Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis

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12 December 2020

Sleep disturbance in spinocerebellar ataxias: is the SCA3 mutation a cause of restless legs syndrome?

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12 December 2020

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

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12 December 2020

Poly-ubiquitin Binding by the Polyglutamine Disease Protein Ataxin-3 Links Its Normal Function to Protein Surveillance Pathways

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12 December 2020

Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus

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12 December 2020

Spinocerebellar ataxias types 2 and 3: degeneration of the pre-cerebellar nuclei isolates the three phylogenetically defined regions of the cerebellum.

1 reference

12 December 2020

Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3.

1 reference

12 December 2020

Autosomal dominant spinocerebellar degenerations. Clinical, pathological, and genetic correlations.

1 reference

12 December 2020

Molecular clearance of ataxin-3 is regulated by a mammalian E4

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12 December 2020

The aetiology of sporadic adult-onset ataxia

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12 December 2020

Structural basis for the specificity of ubiquitin C-terminal hydrolases

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12 December 2020

Glial and neuronal expression of polyglutamine proteins induce behavioral changes and aggregate formation in Drosophila.

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12 December 2020

Suppression of polyglutamine toxicity by a Drosophila homolog of myeloid leukemia factor 1.

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12 December 2020

Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family

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12 December 2020

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

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12 December 2020

The natural history of degenerative ataxia: a retrospective study in 466 patients.

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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

The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activity

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12 December 2020

Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucleotide is associated with the number of CAG repeats.

1 reference

12 December 2020

Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease

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12 December 2020

Parkin facilitates the elimination of expanded polyglutamine proteins and leads to preservation of proteasome function.

1 reference

12 December 2020

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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12 December 2020

Protein structure comparison by alignment of distance matrices

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12 December 2020

Identification of ter94, Drosophila VCP, as a modulator of polyglutamine-induced neurodegeneration

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12 December 2020

Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics

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12 December 2020

Guidelines for the pathoanatomical examination of the lower brain stem in ingestive and swallowing disorders and its application to a dysphagic spinocerebellar ataxia type 3 patient.

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12 December 2020

An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients.

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12 December 2020

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

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12 December 2020

Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.

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12 December 2020

Degeneration of the central vestibular system in spinocerebellar ataxia type 3 (SCA3) patients and its possible clinical significance

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12 December 2020

Random coil conformation for extended polyglutamine stretches in aqueous soluble monomeric peptides.

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12 December 2020

Scale for the assessment and rating of ataxia: development of a new clinical scale

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12 December 2020

Crystal structure of a UBP-family deubiquitinating enzyme in isolation and in complex with ubiquitin aldehyde

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12 December 2020

Structural modeling of ataxin-3 reveals distant homology to adaptins

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12 December 2020

Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B

1 reference

12 December 2020

Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity.

1 reference

12 December 2020

The nucleus raphe interpositus in spinocerebellar ataxia type 3 (Machado-Joseph disease).

1 reference

12 December 2020

A ubiquitin-interacting motif conserved in components of the proteasomal and lysosomal protein degradation systems

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12 December 2020

Consistent affection of the central somatosensory system in spinocerebellar ataxia type 2 and type 3 and its significance for clinical symptoms and rehabilitative therapy

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12 December 2020

Solution structure of polyglutamine tracts in GST-polyglutamine fusion proteins

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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

Structure of the streptococcal endopeptidase IdeS, a cysteine proteinase with strict specificity for IgG.

1 reference

12 December 2020

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

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12 December 2020

Protein surveillance machinery in brains with spinocerebellar ataxia type 3: redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions

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12 December 2020

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

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12 December 2020

Defining the role of ubiquitin-interacting motifs in the polyglutamine disease protein, ataxin-3.

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Interaction of hHR23 with S5a. The ubiquitin-like domain of hHR23 mediates interaction with S5a subunit of 26 S proteasome

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12 December 2020

Comparison of pathways controlling toxicity in the eye and brain in Drosophila models of human neurodegenerative diseases

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12 December 2020

Cellular toxicity of polyglutamine expansion proteins: mechanism of transcription factor deactivation

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12 December 2020

Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene

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12 December 2020

Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.

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12 December 2020

Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease.

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12 December 2020

Analysis of the role of heat shock protein (Hsp) molecular chaperones in polyglutamine disease

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12 December 2020

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

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12 December 2020

Sharing of polyglutamine localization by the neuronal nucleus and cytoplasm in CAG-repeat diseases

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12 December 2020

Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3.

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12 December 2020

Spinocerebellar ataxia type 3 (SCA3): thalamic neurodegeneration occurs independently from thalamic ataxin-3 immunopositive neuronal intranuclear inclusions.

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12 December 2020

Structure of the Ubiquitin-interacting Motif of S5a Bound to the Ubiquitin-like Domain of HR23B

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12 December 2020

Proteolytic cleavage of polyglutamine-expanded ataxin-3 is critical for aggregation and sequestration of non-expanded ataxin-3.

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12 December 2020

Transmission distortion of the mutant alleles in spinocerebellar ataxia.

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12 December 2020

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation

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12 December 2020

Gender equality in Machado–Joseph disease

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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

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

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12 December 2020

Gender equality in Machado–Joseph disease

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12 December 2020

Genetic background of apparently idiopathic sporadic cerebellar ataxia

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12 December 2020

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

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12 December 2020

10.1007/S12311-008-0013-4

Identifiers

DOI

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Dimensions Publication ID

29 June 2017

1029622523

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