|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mounting evidence suggests that reversing transcriptional alterations induced by mutant TBP and reducing the expression of mutant TBP are promising strategies to treat SCA17.
|
31317427 |
2019 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mesencephalic astrocyte-derived neurotrophic factor (MANF) is a recently identified neurotrophic factor, and increasing MANF expression ameliorated SCA17 neuropathology in TBP-105Q knock-in (KI) mouse model, indicating that MANF could be a therapeutic target for treating SCA17.
|
29378605 |
2018 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
Biomarker
|
disease |
BEFREE |
NC009-1 further reduced polyQ aggregation in Purkinje cells and ameliorated behavioral deficits in SCA17 TBP/Q<sub>109</sub> transgenic mice.
|
29936316 |
2018 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the TATA-box binding protein gene (<i>TBP</i>).
|
30532692 |
2018 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar Ataxia Type 17 (SCA17).
|
29427105 |
2018 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
It is important to understand how mutant TBP can cause differential pathological events in SCA17 animal models.
|
27859490 |
2017 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
Biomarker
|
disease |
BEFREE |
These genes were spinocerebellar ataxia (SCA)-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and dentatorubral-pallidolysian atrophy (DRPLA) (ATN1).
|
26077168 |
2015 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
Biomarker
|
disease |
BEFREE |
Furthermore, heterozygous dTbp amorph mutant flies exhibited SCA17-like phenotypes and flies expressing polyQ-expanded TBP exhibited enhanced retinal degeneration, suggesting that loss of TBP function may contribute to SCA17 pathogenesis.
|
25104854 |
2014 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 17 (SCA17) is caused by CAG repeat expansion in the TATA-box binding protein gene.
|
24413982 |
2014 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
Biomarker
|
disease |
BEFREE |
To further investigate this devastating disease, we sought to create a first transgenic rat model for SCA17 that carries a full human cDNA fragment of the TBP gene with 64 CAA/CAG repeats (TBPQ64).
|
23699518 |
2013 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
Biomarker
|
disease |
BEFREE |
Genetic diseases that can present as HD phenocopies include HD-like syndromes such as HDL1, HDL2 and HDL4 (SCA17), some spinocerebellar ataxias (SCAs) and dentatorubral-pallidoluysian atrophy (DRPLA).
|
22297462 |
2012 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Because essential roles of HSPA5 in protection from neuronal apoptosis have been shown in a mouse model, NFYA could be a target of mutant TBP in SCA17.
|
22530004 |
2012 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 17 (SCA17) involves the expression of a CAG/CAA expansion mutation in the gene encoding TATA-box binding protein (TBP), a general transcription initiation factor.
|
20004653 |
2010 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene.
|
20587494 |
2010 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant progressive neurodegenerative disease caused by the CAG/CAA expansion in the TATA box-binding protein (TBP) gene.
|
19581089 |
2009 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
SCA17 is caused by an expanded polyglutamine tract in the TATA box-binding protein (TBP) gene.
|
19566714 |
2009 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Expansion of the CAG repeat of the TATA-box binding protein (TBP) gene has been identified as the causative mutations in spinocerebellar ataxia 17 (SCA17).
|
19014922 |
2009 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to perform DNA analysis in patients with clinical diagnosis of Huntington's disease (HD) after molecular exclusion of HD and further molecular examinations for other neurodegenerative diseases such as Huntington's disease-like 2 (HDL-2; gene JPH3), dentatorubral pallidoluysian atrophy (DRPLA; gene ATN1) and spinocerebellar ataxia type 17 (SCA17; gene TBP).
|
18651325 |
2008 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, the TBP protein mutated in SCA17 is recruited in the inclusions of other polyglutaminopathies, suggesting its involvement in the transcription down-regulation observed in these diseases.
|
18418687 |
2008 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
Biomarker
|
disease |
BEFREE |
Genetic diseases known to cause HD phenocopies include HD-like syndromes HDL1, HDL2, and HDL4 (SCA17).
|
18181206 |
2008 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
These findings implicate the polyQ domain of TBP in transcriptional regulation and provide insight into the molecular pathogenesis of SCA17.
|
17994014 |
2007 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
Biomarker
|
disease |
BEFREE |
The size of the expansion was determined using a fluorescent PCR approach in 10 common SCA genes: SCA-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and DRPLA (ATN1), in 165 ataxia patients and 307 controls of Welsh origin.
|
17961920 |
2007 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 17 (SCA17) is caused by expansion of a CAG/CAA repeat in the TBP gene.
|
17474109 |
2007 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach.
|
17033685 |
2007 |
|
SPINOCEREBELLAR ATAXIA 17
|
0.900 |
Biomarker
|
disease |
BEFREE |
The authors performed a multimodal electrophysiologic evaluation in nine patients belonging to four SCA17 (spinocerebellar ataxia type 17) families.
|
16567717 |
2006 |