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Literature DB >> 14985389

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

P Bauer, F Laccone, A Rolfs, U Wüllner, S Bösch, H Peters, S Liebscher, M Scheible, J T Epplen, B H F Weber, E Holinski-Feder, H Weirich-Schwaiger, D J Morris-Rosendahl, J Andrich, O Riess.

Abstract

Entities: Chemical Disease Gene Species

Mesh：

Substances：
TATA-Box Binding Protein

Year: 2004 PMID： 14985389 PMCID： PMC1735701 DOI： 10.1136/jmg.2003.015602

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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Cited

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25 in total

1. Spinocerebellar ataxia type 17 in a patient from an Indian kindred.

Authors: Dietrich Haubenberger; Daniela Prayer; Peter Bauer; Walter Pirker; Alexander Zimprich; Eduard Auff
Journal: J Neurol Date: 2006-09-13 Impact factor: 4.849

2. CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study.

Authors: Kathrin Reetz; Alexandra Kleiman; Christine Klein; Rebekka Lencer; Christine Zuehlke; Kathrin Brockmann; Arndt Rolfs; Ferdinand Binkofski
Journal: PLoS One Date: 2011-01-19 Impact factor: 3.240

Review 3. Genetically modified rodent models of SCA17.

Authors: Yiting Cui; Su Yang; Xiao-Jiang Li; Shihua Li
Journal: J Neurosci Res Date: 2016-11-18 Impact factor: 4.164

4. Neuronal expression of TATA box-binding protein containing expanded polyglutamine in knock-in mice reduces chaperone protein response by impairing the function of nuclear factor-Y transcription factor.

Authors: Shanshan Huang; Joseph J Ling; Su Yang; Xiao-Jiang Li; Shihua Li
Journal: Brain Date: 2011-07 Impact factor: 13.501

5. Synergistic Toxicity of Polyglutamine-Expanded TATA-Binding Protein in Glia and Neuronal Cells: Therapeutic Implications for Spinocerebellar Ataxia 17.

Authors: Yang Yang; Su Yang; Jifeng Guo; Yiting Cui; Beisha Tang; Xiao-Jiang Li; Shihua Li
Journal: J Neurosci Date: 2017-08-18 Impact factor: 6.167

10. Polyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicity.

Authors: Meyer J Friedman; Chuan-En Wang; Xiao-Jiang Li; Shihua Li
Journal: J Biol Chem Date: 2008-01-24 Impact factor: 5.157

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

1. Spinocerebellar ataxia type 17 in a patient from an Indian kindred.

2. CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study.

Review 3. Genetically modified rodent models of SCA17.

4. Neuronal expression of TATA box-binding protein containing expanded polyglutamine in knock-in mice reduces chaperone protein response by impairing the function of nuclear factor-Y transcription factor.

5. Synergistic Toxicity of Polyglutamine-Expanded TATA-Binding Protein in Glia and Neuronal Cells: Therapeutic Implications for Spinocerebellar Ataxia 17.

6. Non-Ataxic Presenting Symptoms of Dominant Ataxias.

7. Large Polyglutamine Repeats Cause Muscle Degeneration in SCA17 Mice.

8. Past, present and future therapeutics for cerebellar ataxias.

Review 9. Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein.

10. Polyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicity.