Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Deactivation of TBP contributes to SCA17 pathogenesis.

Human molecular genetics - 20 Dec 2014

Hsu Tun-Chieh, Wang Cheng-Kuang, Yang Chun-Yen, Lee Li-Ching, Hsieh-Li Hsiu-Mei, Ro Long-Sun, Chen Chiung-Mei, Lee-Chen Guey-Jen, Su Ming-Tsan

Abstract excerpt

Spinocerebellar ataxia type 17 (SCA17) is an autosomal dominant cerebellar ataxia caused by the expansion of polyglutamine (polyQ) within the TATA box-binding protein (TBP). Previous studies have shown that polyQ-expanded TBP forms neurotoxic aggregates and alters downstream genes. However, how expanded polyQ tracts affect the function of TBP and the link between dysfunctional TBP and SCA17 is not clearly...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Huntington Disease
Share to Longevity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Machado-Joseph Disease

Share to Peptides

Share to Protein Aggregates

Share to Retinal Degeneration

Share to Spinocerebellar Ataxias

Share to TATA-Box Binding Protein

Source

Identifiers

PMID: 25104854
DOI: 10.1093/hmg/ddu410

Genes

TBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deactivation of TBP contributes to SCA17 pathogenesis.PMID 25104854Read ↗

Phenotypic defects from the expression of wild-type and pathogenic TATA-Binding Proteins in new <i>Drosophila</i> models of Spinocerebellar Ataxia Type 17Semantic proximity Read ↗

Polyglutamine domain modulates the TBP-TFIIB interaction: implications for its normal function and neurodegeneration.Semantic proximity Read ↗

Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17.Semantic proximity Read ↗

Molecular investigation of TBP allele length: a SCA17 cellular model and population study.Semantic proximity Read ↗

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.Semantic proximity Read ↗

TATA-binding protein in neurodegenerative disease.Semantic proximity Read ↗

Molecular Mechanisms and Future Therapeutics for Spinocerebellar Ataxia Type 31 (SCA31).Semantic proximity Read ↗

Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).Semantic proximity Read ↗

Mutation analysis of the TATA box-binding protein (TBP) gene in Russian patients with spinocerebellar ataxia and Huntington disease-like phenotype.Semantic proximity Read ↗

Genetically modified rodent models of SCA17.Semantic proximity Read ↗

TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease.Semantic proximity Read ↗

SCA17 repeat expansion: mildly expanded CAG/CAA repeat alleles in neurological disorders and the functional implications.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.