TTBK2 kinase: linking primary cilia and cerebellar ataxias
Open accessAbstract
Mutations disrupting primary cilia cause retinal, renal, and cerebellar defects, and misregulated Sonic hedgehog signaling. A new mouse mutant in the TTBK2 kinase fails to make cilia, and shows neural tube and Sonic hedgehog signaling defects. Ciliary targeting mutations in human TTBK2 are linked to spinocerebellar ataxia, suggesting cilia protect from neurodegeneration.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Mutation in the TTBK2 gene is associated with spinocerebellar ataxia.
“A mutation in the TTBK2 gene is associated with spinocerebellar ataxia which is a genetic syndrome causing progressive degeneration of the cerebellum and the spinal cord (Jackson, 2012; Matilla-Duenas, 2012).”
From Identification of Candidate Signature Genes and Key Regulators Associated With Trypanotolerance in the Sheko Breed (2019) · cites this paper as Jackson, 2012
No citation lists for this paper
No citation lists for this paper yet — checked again daily.
References 9 · Cited by 17
- Authors
- Jackson, P. K.
- Affiliations
- Genentech (US)
- Corresponding author
- Jackson, Peter K.
- ORCID
- Jackson, Peter K.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2012-11
- Volume
- 151
- Issue
- 4
- Pages
- 697-699
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W1971725646
- Cited by
- 17
- References
- 9
- Citations by year
- 2026: 1 · 2025: 3 · 2023: 1 · 2022: 2 · 2020: 1 · 2019: 3 · 2018: 3 · 2017: 1 · 2015: 1 · 2014: 1
- FWCI
- 0.38
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Keywords
- primary cilia, cerebellar ataxia, spinocerebellar ataxia, Sonic hedgehog signaling, neural tube defects, neurodegeneration, mouse mutants
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
