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

2022-03-14

Abstract excerpt

Cytoplasmic Dynein-2 or IFT-dynein is the only known retrograde motor for intraflagellar transport, enabling protein trafficking from the ciliary tip to the base. 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 indivi...

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Literature Corpus work
cef2e968-460c-508e-aca8-425199f068aa
DOI
10.1101/2022.03.14.483768
Open publication

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Base editing derived models of human <i>WDR34</i> and <i>WDR60</i> disease alleles replicate retrograde IFT and hedgehog signaling defects and suggest disturbed Golgi protein transportDOI 10.1101/2022.03.14.483768
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