(Q31127887)

29 June 2017

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title

Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein (English)

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spinocerebellar ataxia type 17

29 June 2017

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Christine Zühlke

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author name string

Katrin Bürk

series ordinal

2

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29 June 2017

publication date

19 January 2007

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29 June 2017

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29 June 2017

volume

6

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29 June 2017

issue

4

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29 June 2017

page(s)

300-307

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Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families

29 June 2017

cites work

1 reference

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CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms

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12 December 2020

Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3.

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Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease

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Analysis of polyglutamine-coding repeats in the TATA-binding protein in different human populations and in patients with schizophrenia and bipolar affective disorder

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CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.

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12 December 2020

Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17.

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Functional domains and upstream activation properties of cloned human TATA binding protein

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Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.

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12 December 2020

Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region

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12 December 2020

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

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Insoluble TATA-binding protein accumulation in Huntington's disease cortex.

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Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.

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

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12 December 2020

"Cryptic" repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes

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12 December 2020

Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes

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Minimum prevalence of spinocerebellar ataxia 17 in the north east of England.

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12 December 2020

The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population

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12 December 2020

Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases

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Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).

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12 December 2020

Behavioral Disorder, Dementia, Ataxia, and Rigidity in a Large Family With TATA Box-Binding Protein Mutation

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

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Putamen dopamine transporter and glucose metabolism are reduced in SCA17.

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

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12 December 2020

Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging

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12 December 2020

Focal dystonia as a presenting sign of spinocerebellar ataxia 17.

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12 December 2020

Highly conserved core domain and unique N terminus with presumptive regulatory motifs in a human TATA factor (TFIID).

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Conservation and evolution of transcriptional mechanisms in eukaryotes

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International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease

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12 December 2020

Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17).

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12 December 2020

Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?

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12 December 2020

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes

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12 December 2020

Cloning of a transcriptionally active human TATA binding factor

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12 December 2020

Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease

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12 December 2020

RNA polymerase II transcription in murine cells lacking the TATA binding protein

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12 December 2020

TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease.

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12 December 2020

Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17.

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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

No evidence for expanded polyglutamine sequences in bipolar disorder and schizophrenia.

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12 December 2020

SCA17 homozygote showing Huntington's disease-like phenotype.

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12 December 2020

A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?

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12 December 2020

Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.

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12 December 2020

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

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12 December 2020

Intergenerational instability and marked anticipation in SCA-17

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12 December 2020

Reduced penetrance of the Huntington's disease mutation

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12 December 2020

Rethinking genotype and phenotype correlations in polyglutamine expansion disorders

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12 December 2020

Basal ganglia involvement of a patient with SCA 17--a new form of autosomal dominant spinocerebellar ataxia

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12 December 2020

Distinct roles for TBP and TBP-like factor in early embryonic gene transcription in Xenopus

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12 December 2020

Homozygotes for Huntington's disease

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12 December 2020

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

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12 December 2020

Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients

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12 December 2020

Physical mapping at 6q27 of the locus for the TATA box-binding protein, the DNA-binding subunit of TFIID and a component of SL1 and TFIIIB, strongly suggests that it is single copy in the human genome

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12 December 2020

Trinucleotide repeat polymorphism at the human transcription factor IID gene

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12 December 2020

SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6.

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12 December 2020

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

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12 December 2020

The wide spectrum of spinocerebellar ataxias (SCAs)

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12 December 2020

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

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12 December 2020

Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study.

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12 December 2020

Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles

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12 December 2020

10.1080/14734220601136177

Identifiers

DOI

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Dimensions Publication ID

29 June 2017

1044641106

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