| DUBAIC, Marija, Lucie PEŠKOVÁ, Marek HAMPL, Kamila WEISSOVÁ, Canan ÇELIKER, Natalia A. SHYLO, Eva HRUBA, Michaela KAVKOVA, Tomas ZIKMUND, Scott D WEATHERBEE, Jozef KAISER, Tomáš BÁRTA and Marcela BUCHTOVÁ. Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid. Life Science Alliance. Life Science Alliance LLC, 2023, vol. 6, No 12, p. 1-16. ISSN 2575-1077. Available from: https://dx.doi.org/10.26508/lsa.202302073. |
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@article{2333477,
author = {Dubaic, Marija and Pešková, Lucie and Hampl, Marek and Weissová, Kamila and Çeliker, Canan and Shylo, Natalia A. and Hruba, Eva and Kavkova, Michaela and Zikmund, Tomas and Weatherbee, Scott D and Kaiser, Jozef and Bárta, Tomáš and Buchtová, Marcela},
article_number = {12},
doi = {http://dx.doi.org/10.26508/lsa.202302073},
keywords = {eye development; primary cilia; organoids; transmembrane protein},
language = {eng},
issn = {2575-1077},
journal = {Life Science Alliance},
title = {Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid},
url = {https://doi.org/10.26508/lsa.202302073},
volume = {6},
year = {2023}
}
TY - JOUR
ID - 2333477
AU - Dubaic, Marija - Pešková, Lucie - Hampl, Marek - Weissová, Kamila - Çeliker, Canan - Shylo, Natalia A. - Hruba, Eva - Kavkova, Michaela - Zikmund, Tomas - Weatherbee, Scott D - Kaiser, Jozef - Bárta, Tomáš - Buchtová, Marcela
PY - 2023
TI - Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid
JF - Life Science Alliance
VL - 6
IS - 12
SP - 1-16
EP - 1-16
PB - Life Science Alliance LLC
SN - 25751077
KW - eye development
KW - primary cilia
KW - organoids
KW - transmembrane protein
UR - https://doi.org/10.26508/lsa.202302073
N2 - Primary cilia are cellular surface projections enriched in receptors and signaling molecules, acting as signaling hubs that respond to stimuli. Malfunctions in primary cilia have been linked to human diseases, including retinopathies and ocular defects. Here, we focus on TMEM107, a protein localized to the transition zone of primary cilia. TMEM107 mutations were found in patients with Joubert and Meckel–Gruber syndromes. A mouse model lacking Tmem107 exhibited eye defects such as anophthalmia and microphthalmia, affecting retina differentiation. Tmem107 expression during prenatal mouse development correlated with phenotype occurrence, with enhanced expression in differentiating retina and optic stalk. TMEM107 deficiency in retinal organoids resulted in the loss of primary cilia, down-regulation of retina-specific genes, and cyst formation. Knocking out TMEM107 in human ARPE-19 cells prevented primary cilia formation and impaired response to Smoothened agonist treatment because of ectopic activation of the SHH pathway. Our data suggest TMEM107 plays a crucial role in early vertebrate eye development and ciliogenesis in the differentiating retina.
ER -
DUBAIC, Marija, Lucie PEŠKOVÁ, Marek HAMPL, Kamila WEISSOVÁ, Canan $\backslash$C CELIKER, Natalia A. SHYLO, Eva HRUBA, Michaela KAVKOVA, Tomas ZIKMUND, Scott D WEATHERBEE, Jozef KAISER, Tomáš BÁRTA and Marcela BUCHTOVÁ. Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid. \textit{Life Science Alliance}. Life Science Alliance LLC, 2023, vol.~6, No~12, p.~1-16. ISSN~2575-1077. Available from: https://dx.doi.org/10.26508/lsa.202302073.
|
