Molecular mechanisms underlying the role of the centriolar
CEP164-TTBK2 complex in ciliopathies

J 2022

Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies

SILVA, Ivan Rosa e, Lucia BINÓ, Christopher M. JOHNSON, Trevor J. RUTHERFORD, David NEUHAUS et. al.

Základní údaje

Originální název

Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies

Autoři

SILVA, Ivan Rosa e, Lucia BINÓ, Christopher M. JOHNSON, Trevor J. RUTHERFORD, David NEUHAUS, Antonina ANDREEVA, Lukáš ČAJÁNEK (203 Česká republika, domácí) a Mark van BREUGEL

Vydání

Structure, Cambridge, Cell Press, 2022, 0969-2126

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

10601 Cell biology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 5.700

Kód RIV

RIV/00216224:14110/22:00125148

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1016/j.str.2021.08.007

UT WoS

000742422300013

Klíčová slova anglicky

CEP164; TTBK2; ciliaciliogenesis; ciliopathy; nephronophthisis; basal body; centriole; distal appendage; centrosome

Štítky

14110517, CF CELLIM, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 28. 2. 2023 14:00, Mgr. Tereza Miškechová

Anotace

V originále

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.

Návaznosti

GA19-05244S, projekt VaV

Název: Molekulární aspekty ciliogeneze: zaměření na Tau Tubulin Kinázu 2

Investor: Grantová agentura ČR, Molekulární aspekty ciliogeneze: zaměření na Tau Tubulin Kinázu 2

LM2018129, projekt VaV

Název: Národní infrastruktura pro biologické a medicínské zobrazování Czech-BioImaging

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, National research infrastructure for biological and medical imaging

Citovat

SILVA, Ivan Rosa e, Lucia BINÓ, Christopher M. JOHNSON, Trevor J. RUTHERFORD, David NEUHAUS, Antonina ANDREEVA, Lukáš ČAJÁNEK a Mark van BREUGEL. Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies. Structure. Cambridge: Cell Press, 2022, roč. 30, č. 1, s. "114-128"-"e1-e9", 25 s. ISSN 0969-2126. Dostupné z: https://dx.doi.org/10.1016/j.str.2021.08.007.

@article{1818485,
   author = {Silva, Ivan Rosa e and Binó, Lucia and Johnson, Christopher M. and Rutherford, Trevor J. and Neuhaus, David and Andreeva, Antonina and Čajánek, Lukáš and Breugel, Mark van},
   article_location = {Cambridge},
   article_number = {1},
   doi = {http://dx.doi.org/10.1016/j.str.2021.08.007},
   keywords = {CEP164; TTBK2; ciliaciliogenesis; ciliopathy; nephronophthisis; basal body; centriole; distal appendage; centrosome},
   language = {eng},
   issn = {0969-2126},
   journal = {Structure},
   title = {Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies},
   url = {https://www.sciencedirect.com/science/article/pii/S0969212621003026},
   volume = {30},
   year = {2022}
}

TY  - JOUR
ID  - 1818485
AU  - Silva, Ivan Rosa e - Binó, Lucia - Johnson, Christopher M. - Rutherford, Trevor J. - Neuhaus, David - Andreeva, Antonina - Čajánek, Lukáš - Breugel, Mark van
PY  - 2022
TI  - Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies
JF  - Structure
VL  - 30
IS  - 1
SP  - "114-128"-"e1-e9"
EP  - "114-128"-"e1-e9"
PB  - Cell Press
SN  - 09692126
KW  - CEP164
KW  - TTBK2
KW  - ciliaciliogenesis
KW  - ciliopathy
KW  - nephronophthisis
KW  - basal body
KW  - centriole
KW  - distal appendage
KW  - centrosome
UR  - https://www.sciencedirect.com/science/article/pii/S0969212621003026
N2  - 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.
ER  -

SILVA, Ivan Rosa e, Lucia BINÓ, Christopher M. JOHNSON, Trevor J. RUTHERFORD, David NEUHAUS, Antonina ANDREEVA, Lukáš ČAJÁNEK a Mark van BREUGEL. Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies. \textit{Structure}. Cambridge: Cell Press, 2022, roč.~30, č.~1, s.~''114-128''-''e1-e9'', 25 s. ISSN~0969-2126. Dostupné z: https://dx.doi.org/10.1016/j.str.2021.08.007.

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