PXD032758 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | Analysis of impact of clinical mutations in WDR34 by GFP-trap proteomics. |
Description | 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. |
HostingRepository | PRIDE |
AnnounceDate | 2022-09-06 |
AnnouncementXML | Submission_2022-09-06_05:55:44.392.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | David Stephens |
SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
ModificationList | No PTMs are included in the dataset |
Instrument | LTQ Orbitrap |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2022-03-23 08:05:47 | ID requested | |
⏵ 1 | 2022-09-06 05:55:44 | announced | |
Publication List
Dataset with its publication pending |
Keyword List
submitter keyword: Human, cilia, epithelial cells, dynein-2, WDR34, ciliopathy |
Contact List
David Stephens |
contact affiliation | University of Bristol |
contact email | david.stephens@bristol.ac.uk |
lab head | |
David Stephens |
contact affiliation | University of Bristol |
contact email | david.stephens@bristol.ac.uk |
dataset submitter | |
Full Dataset Link List
Dataset FTP location
NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2022/09/PXD032758 |
PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD032758
- Label: PRIDE project
- Name: Analysis of impact of clinical mutations in WDR34 by GFP-trap proteomics.