| BOSÁKOVÁ, Michaela, Sara POOVAKULATHU ABRAHAM, Alexandru NITĂ, Eva HRUBA, Marcela BUCHTOVA, S. Paige TAYLOR, Ivan DURAN, Jorge MARTIN, Kateřina SVOZILOVÁ, Tomáš BÁRTA, Miroslav VAŘECHA, Lukáš BÁLEK, Jiri KOHOUTEK, Tomasz Witold RADASZKIEWICZ, Ganesh V. PUSAPATI, Vítězslav BRYJA, Eric T. RUSH, Isabelle THIFFAULT, Deborah A. NICKERSON, Michael J. BAMSHAD, Rajat ROHATGI, Daniel H. COHN, Deborah KRAKOW a Pavel KREJČÍ. Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling. EMBO MOLECULAR MEDICINE. HOBOKEN: WILEY-BLACKWELL, 2020, roč. 12, č. 11, s. 1-20. ISSN 1757-4676. Dostupné z: https://dx.doi.org/10.15252/emmm.201911739. |
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@article{1688918,
author = {Bosáková, Michaela and Poovakulathu Abraham, Sara and Nită, Alexandru and Hruba, Eva and Buchtova, Marcela and Taylor, S. Paige and Duran, Ivan and Martin, Jorge and Svozilová, Kateřina and Bárta, Tomáš and Vařecha, Miroslav and Bálek, Lukáš and Kohoutek, Jiri and Radaszkiewicz, Tomasz Witold and Pusapati, Ganesh V. and Bryja, Vítězslav and Rush, Eric T. and Thiffault, Isabelle and Nickerson, Deborah A. and Bamshad, Michael J. and Rohatgi, Rajat and Cohn, Daniel H. and Krakow, Deborah and Krejčí, Pavel},
article_location = {HOBOKEN},
article_number = {11},
doi = {http://dx.doi.org/10.15252/emmm.201911739},
keywords = {asphyxiating thoracic dystrophy; GRK2; hedgehog; smoothened; Wnt},
language = {eng},
issn = {1757-4676},
journal = {EMBO MOLECULAR MEDICINE},
title = {Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling},
url = {https://www.embopress.org/doi/full/10.15252/emmm.201911739},
volume = {12},
year = {2020}
}
TY - JOUR
ID - 1688918
AU - Bosáková, Michaela - Poovakulathu Abraham, Sara - Nită, Alexandru - Hruba, Eva - Buchtova, Marcela - Taylor, S. Paige - Duran, Ivan - Martin, Jorge - Svozilová, Kateřina - Bárta, Tomáš - Vařecha, Miroslav - Bálek, Lukáš - Kohoutek, Jiri - Radaszkiewicz, Tomasz Witold - Pusapati, Ganesh V. - Bryja, Vítězslav - Rush, Eric T. - Thiffault, Isabelle - Nickerson, Deborah A. - Bamshad, Michael J. - Rohatgi, Rajat - Cohn, Daniel H. - Krakow, Deborah - Krejčí, Pavel
PY - 2020
TI - Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling
JF - EMBO MOLECULAR MEDICINE
VL - 12
IS - 11
SP - 1-20
EP - 1-20
PB - WILEY-BLACKWELL
SN - 17574676
KW - asphyxiating thoracic dystrophy
KW - GRK2
KW - hedgehog
KW - smoothened
KW - Wnt
UR - https://www.embopress.org/doi/full/10.15252/emmm.201911739
L2 - https://www.embopress.org/doi/full/10.15252/emmm.201911739
N2 - Mutations in genes affecting primary cilia cause ciliopathies, a diverse group of disorders often affecting skeletal development. This includes Jeune syndrome or asphyxiating thoracic dystrophy (ATD), an autosomal recessive skeletal disorder. Unraveling the responsible molecular pathology helps illuminate mechanisms responsible for functional primary cilia. We identified two families with ATD caused by loss-of-function mutations in the gene encoding adrenergic receptor kinase 1 (ADRBK1 or GRK2). GRK2 cells from an affected individual homozygous for the p.R158* mutation resulted in loss of GRK2, and disrupted chondrocyte growth and differentiation in the cartilage growth plate. GRK2 null cells displayed normal cilia morphology, yet loss of GRK2 compromised cilia-based signaling of Hedgehog (Hh) pathway. Canonical Wnt signaling was also impaired, manifested as a failure to respond to Wnt ligand due to impaired phosphorylation of the Wnt co-receptor LRP6. We have identified GRK2 as an essential regulator of skeletogenesis and demonstrate how both Hh and Wnt signaling mechanistically contribute to skeletal ciliopathies.
ER -
BOSÁKOVÁ, Michaela, Sara POOVAKULATHU ABRAHAM, Alexandru NIT$\backslash$U A, Eva HRUBA, Marcela BUCHTOVA, S. Paige TAYLOR, Ivan DURAN, Jorge MARTIN, Kateřina SVOZILOVÁ, Tomáš BÁRTA, Miroslav VAŘECHA, Lukáš BÁLEK, Jiri KOHOUTEK, Tomasz Witold RADASZKIEWICZ, Ganesh V. PUSAPATI, Vítězslav BRYJA, Eric T. RUSH, Isabelle THIFFAULT, Deborah A. NICKERSON, Michael J. BAMSHAD, Rajat ROHATGI, Daniel H. COHN, Deborah KRAKOW a Pavel KREJČÍ. Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling. \textit{EMBO MOLECULAR MEDICINE}. HOBOKEN: WILEY-BLACKWELL, 2020, roč.~12, č.~11, s.~1-20. ISSN~1757-4676. Dostupné z: https://dx.doi.org/10.15252/emmm.201911739.
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