IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

Motile and non-motile cilia play critical roles in mammalian development and health. These organelles are composed of a 1000 or more unique proteins, but their assembly depends entirely on proteins synthesized in the cell body and transported into the cilium by intraflagellar transport (IFT). In mam...

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Detalles Bibliográficos
Autores principales: Bakey, Zeineb, Cabrera, Oscar A., Hoefele, Julia, Antony, Dinu, Wu, Kaman, Stuck, Michael W., Micha, Dimitra, Eguether, Thibaut, Smith, Abigail O., van der Wel, Nicole N., Wagner, Matias, Strittmatter, Lara, Beales, Philip L., Jonassen, Julie A., Thiffault, Isabelle, Cadieux-Dion, Maxime, Boyes, Laura, Sharif, Saba, Tüysüz, Beyhan, Dunstheimer, Desiree, Niessen, Hans W. M., Devine, William, Lo, Cecilia W., Mitchison, Hannah M., Schmidts, Miriam, Pazour, Gregory J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298753/
https://www.ncbi.nlm.nih.gov/pubmed/37315079
http://dx.doi.org/10.1371/journal.pgen.1010796

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