Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse

Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse

From a cohort of 167 infertile patients suffering from multiple morphological abnormalities of the flagellum (MMAF), pathogenic bi-allelic mutations were identified in the CCDC146 gene. In somatic cells, CCDC146 is located at the centrosome and at multiple microtubule-related organelles during mitot...

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Autori principali: Jana Muroňová, Zine Eddine Kherraf, Elsa Giordani, Emeline Lambert, Simon Eckert, Caroline Cazin, Amir Amiri-Yekta, Magali Court, Geneviève Chevalier, Guillaume Martinez, Yasmine Neirijnck, Francoise Kühne, Lydia Wehrli, Nikolai Klena, Virginie Hamel, Lisa De Macedo, Jessica Escoffier, Paul Guichard, Charles Coutton, Selima Fourati Ben Mustapha, Mahmoud Kharouf, Anne-Pacale Bouin, Raoudha Zouari, Nicolas Thierry-Mieg, Serge Nef, Stefan Geimer, Corinne Loeuillet, Pierre F Ray, Christophe Arnoult
Natura: Articolo
Lingua:English
Pubblicazione: eLife Sciences Publications Ltd 2024-03-01
Serie:eLife
Soggetti:
infertility
sperm
flagellum
Accesso online:https://elifesciences.org/articles/86845

Accesso online

https://elifesciences.org/articles/86845

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