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Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies
I. Rosa E Silva, L. Binó, CM. Johnson, TJ. Rutherford, D. Neuhaus, A. Andreeva, L. Čajánek, M. van Breugel
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
MC_U105178934
Medical Research Council - United Kingdom
MC_U105184326
Medical Research Council - United Kingdom
MC_UP_1201/3
Medical Research Council - United Kingdom
NLK
Cell Press Free Archives
od 1995-01-01 do Před 1 rokem
Free Medical Journals
od 1995 do Před 1 rokem
Free Medical Journals
od 1995 do Před 1 rokem
- MeSH
- ciliopatie genetika MeSH
- cirkulární dichroismus MeSH
- HEK293 buňky MeSH
- konformace proteinů MeSH
- lidé MeSH
- mikrotubulární proteiny chemie genetika metabolismus MeSH
- molekulární modely MeSH
- mutace * MeSH
- protein-serin-threoninkinasy chemie metabolismus MeSH
- proteinové domény MeSH
- proteiny asociované s mikrotubuly metabolismus MeSH
- stabilita proteinů MeSH
- vazba proteinů MeSH
- vazebná místa MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Cilia formation is essential for human life. One of the earliest events in the ciliogenesis program is the recruitment of tau-tubulin kinase 2 (TTBK2) by the centriole distal appendage component CEP164. Due to the lack of high-resolution structural information on this complex, it is unclear how it is affected in human ciliopathies such as nephronophthisis. Furthermore, it is poorly understood if binding to CEP164 influences TTBK2 activities. Here, we present a detailed biochemical, structural, and functional analysis of the CEP164-TTBK2 complex and demonstrate how it is compromised by two ciliopathic mutations in CEP164. Moreover, we also provide insights into how binding to CEP164 is coordinated with TTBK2 activities. Together, our data deepen our understanding of a crucial step in cilia formation and will inform future studies aimed at restoring CEP164 functionality in a debilitating human ciliopathy.
Citace poskytuje Crossref.org
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- $a Cilia formation is essential for human life. One of the earliest events in the ciliogenesis program is the recruitment of tau-tubulin kinase 2 (TTBK2) by the centriole distal appendage component CEP164. Due to the lack of high-resolution structural information on this complex, it is unclear how it is affected in human ciliopathies such as nephronophthisis. Furthermore, it is poorly understood if binding to CEP164 influences TTBK2 activities. Here, we present a detailed biochemical, structural, and functional analysis of the CEP164-TTBK2 complex and demonstrate how it is compromised by two ciliopathic mutations in CEP164. Moreover, we also provide insights into how binding to CEP164 is coordinated with TTBK2 activities. Together, our data deepen our understanding of a crucial step in cilia formation and will inform future studies aimed at restoring CEP164 functionality in a debilitating human ciliopathy.
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