Proteomics

Dataset Information

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


ABSTRACT: 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 lead to ciliopathies, a group of genetic disorders that commonly lead to the malformation of organs such as the kidney, liver and eyes and skeletal deformation. Motor proteins dynein-2 and kinesin-2 mediate retrograde and anterograde transport in the cilium. WDR34, a dynein-2 intermediate chain, is required for the maintenance of cilia function. Here, we investigated WDR34 mutations, some as compound mutations with other dynein-2 or IFT proteins, identified in Jeune syndrome, Short-Rib Polydactyly Syndrome or Asphyxiating thoracic dysplasia patients by stably expressing the mutant proteins in WDR34 knockout cells. WDR34 mutations led to different spectrums of phenotypes. Here, we have used quantitative proteomics demonstrated changes in dynein-2 assembly. These data re[resent pilot experiments subsequently developed fully and deposited as PXD032758.

INSTRUMENT(S): Orbitrap Fusion Lumos

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Epithelial Cell, Cell Culture

SUBMITTER: David Stephens  

LAB HEAD: David Stephens

PROVIDER: PXD046827 | Pride | 2024-04-15

REPOSITORIES: Pride

Dataset's files

Source:
Action DRS
040821_Fraction_1.raw Raw
040821_Fraction_4.raw Raw
070721_Fraction_1.raw Raw
070721_Fraction_2.raw Raw
070721_Fraction_3.raw Raw
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