Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid
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Date
2023-10-20
Authors
Dubaic, Marija
Pešková, Lucie
Hampl, Marek
Weissová, Kamila
Celiker, Canan
Shylo, Natalya A.
Hrubá, Eva
Kavková, Michaela
Zikmund, Tomáš
Weatherbee, Scott Donald
0000-0001-7435-9292Advisor
Referee
Mark
Journal Title
Journal ISSN
Volume Title
Publisher
Life Science Alliance
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Abstract
Primary cilia, enriched in receptors and signaling molecules, serve as vital signaling hubs responsive to stimuli and are implicated in human diseases like retinopathies. TMEM107, localized to the transition zone of primary cilia, is linked to conditions such as Joubert and Meckel–Gruber syndromes, and its deficiency hinders cilia formation and early vertebrate eye development in retinal organoids.
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Citation
Life Science Alliance. 2023, vol. 6, issue 12, p. 1-16.
https://www.life-science-alliance.org/content/6/12/e202302073
https://www.life-science-alliance.org/content/6/12/e202302073
Document type
Peer-reviewed
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Published version
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en