SPINOCEREBELLAR ATAXIA 11
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
Tau-tubulin kinase-2 (TTBK2) is genetically linked to spinocerebellar ataxia type 11, and its kinase activity is crucial for ciliogenesis.
|
31455668 |
2019 |
SPINOCEREBELLAR ATAXIA 11
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
In this work, we present evidence that SCA11-associated mutations are dominant negative alleles and that the resulting truncated protein (TTBK2SCA11) interferes with the function of full length TTBK2 in mediating ciliogenesis.
|
30532139 |
2018 |
SPINOCEREBELLAR ATAXIA 11
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
A novel frameshift mutation (c.1205_1207delinsA) in the tau-tubulin kinase 2 encoding gene, TTBK2, was identified, which was compatible with a diagnosis of SCA11.
|
27165044 |
2017 |
SPINOCEREBELLAR ATAXIA 11
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
Dominant truncating mutations in human TTBK2 cause spinocerebellar ataxia type 11 (SCA11); these mutant proteins do not promote ciliogenesis and inhibit ciliogenesis in wild-type cells.
|
23141541 |
2012 |
SPINOCEREBELLAR ATAXIA 11
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
Recently, a large British pedigree linked to SCA11 has been reported to carry a mutation in the TTBK2 gene.
|
20667868 |
2010 |
SPINOCEREBELLAR ATAXIA 11
|
0.660 |
CausalMutation
|
disease |
CLINVAR |
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
|
18037885 |
2007 |
SPINOCEREBELLAR ATAXIA 11
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
We identified mutations in the gene encoding tau tubulin kinase 2 (TTBK2) as the cause of spinocerebellar ataxia type 11.
|
18037885 |
2007 |
SPINOCEREBELLAR ATAXIA 11
|
0.660 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
SPINOCEREBELLAR ATAXIA 11
|
0.660 |
Biomarker
|
disease |
CTD_human |
|
|
|
SPINOCEREBELLAR ATAXIA 11
|
0.660 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
SPINOCEREBELLAR ATAXIA 11
|
0.660 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Ataxia, Spinocerebellar
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia.
|
27165044 |
2017 |
Ataxia, Spinocerebellar
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis.
|
23141541 |
2012 |
Ataxia, Spinocerebellar
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development.
|
21548880 |
2011 |
Ataxia, Spinocerebellar
|
0.340 |
Biomarker
|
disease |
BEFREE |
These data suggest that TTBK2 is important in the tau cascade and in spinocerebellar degeneration.
|
18037885 |
2007 |
Ataxia, Spinocerebellar
|
0.340 |
Biomarker
|
disease |
CTD_human |
These data suggest that TTBK2 is important in the tau cascade and in spinocerebellar degeneration.
|
18037885 |
2007 |
Spinocerebellar Ataxia Type 1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
|
18037885 |
2007 |
Spinocerebellar Ataxia Type 2
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
|
18037885 |
2007 |
Spinocerebellar Ataxia Type 4
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
|
18037885 |
2007 |
Spinocerebellar Ataxia Type 5
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
|
18037885 |
2007 |
Spinocerebellar Ataxia Type 6 (disorder)
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
|
18037885 |
2007 |
Spinocerebellar Ataxia Type 7
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
|
18037885 |
2007 |
Small cell carcinoma of lung
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
Inherited neuropathies
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Progressive cerebellar ataxia
|
0.110 |
Biomarker
|
disease |
BEFREE |
Spinal cerebellar ataxia 11 (SCA11) is a rare disease, characterized by progressive cerebellar ataxia, abnormal eye sign.
|
31485862 |
2020 |