Article

Base editing derived models of human WDR34 and WDR60 disease alleles replicate retrograde IFT and hedgehog signaling defects and suggest disturbed Golgi protein transport

2022-07-19

Abstract excerpt

<title>Abstract</title> Cytoplasmic Dynein-2 / IFT-dynein is the only known retrograde motor for intraflagellar transport. Dysfunction of WDR34 and WDR60, the two intermediate chains of this complex, causes Short Rib Thoracic Dystrophy (SRTD), human skeletal chondrodysplasias with high lethality. Complete loss of function of WDR34 or WDR60 is lethal in vertebrates and individuals with SRTD carry at least one p...

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Literature Corpus work: 5af139b8-489a-59f7-abde-1a7ebb4170f1
DOI: 10.21203/rs.3.rs-1825000/v1

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