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Base editing-derived models of human WDR34 and WDR60 disease alleles replicate retrograde intraflagellar transport (IFT) and hedgehog signaling defects.

Communications biology - 1 Jul 2026

Antony Dinu, Güleç Elif Yilmaz, Klawonn Anna, Bakey Zeineb, Schüle Isabel, Kim Gwang-Jin, Cathomen Toni, Skatulla Ilona, Brunner Han G, Arnold Sebastian J, Schmidts Miriam

Abstract excerpt

Cytoplasmic Dynein-2 / IFT-dynein is the only known retrograde motor for intraflagellar transport. Dysfunction of the two intermediate dynein chains WDR34 and WDR60 causes Short Rib Thoracic Dystrophy (SRTD), a human skeletal chondrodysplasias with high lethality. However, individual protein functions are incompletely understood as complete loss of function of WDR34 or WDR60 is lethal in vertebrates and...

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PMID: 42386923
DOI: 10.1038/s42003-026-10507-2
PMCID: PMC13328300

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Base editing-derived models of human WDR34 and WDR60 disease alleles replicate retrograde intraflagellar transport (IFT) and hedgehog signaling defects.PMID 42386923Read ↗

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