Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

Primary Ciliary Dyskinesia (PCD) most often arises from loss of the dynein motors that power ciliary beating. Here we show that PF22/DNAAF3, a previously uncharacterized protein, is essential for the preassembly of dyneins into complexes prior to their transport into cilia. We identified loss-of-fun...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Mitchison, Hannah M., Schmidts, Miriam, Loges, Niki T., Freshour, Judy, Dritsoula, Athina, Hirst, Rob A., O’Callaghan, Christopher, Blau, Hannah, Dabbagh, Maha Al, Olbrich, Heike, Beales, Philip L., Yagi, Toshiki, Mussaffi, Huda, Chung, Eddie M.K., Omran, Heymut, Mitchell, David R.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2012
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3315610/
https://ncbi.nlm.nih.gov/pubmed/22387996
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.1106
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