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Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2

2022-03-31

Abstract excerpt

The primary cilium is a sensory organelle, receiving signals from the external environment and relaying them into the cell. Mutations in proteins required for transport in the primary cilium result in ciliopathies, a group of genetic disorders that commonly lead to the malformation of organs such as the kidney, liver and eyes and skeletal dysplasias. Motor proteins dynein-2 and kinesin-2 mediate retrograde and ant...

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Literature Corpus work
4b4238ec-05e3-563e-8cc3-054032f43896
DOI
10.1101/2022.03.31.486414
Open publication

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Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2DOI 10.1101/2022.03.31.486414
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