PXD050731 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | TBK1 p.E696K mutation causes autophagolysosomal dysfunction and ALS/FTD-like symptoms in mice |
Description | While deleterious mutations are responsible for the vast majority of TBK1-linked ALS/FTD cases, the ALS/FTD causing missense mutation p.E696K leads to a selective loss of TBK1/optineurin binding. Knock-in of this specific missense mutation causes progressive autophagolysosomal dysfunction and an ALS/FTD-like phenotype in mice, while, as opposed to TBK1 deletion, RIPK/TNF-α-dependent necroptosis or overt inflammation are absent. Our results highlight the role of autophagolysosomal dysfunction as a therapeutic target in TBK1-ALS/FTD. |
HostingRepository | PRIDE |
AnnounceDate | 2024-03-19 |
AnnouncementXML | Submission_2024-03-19_00:49:37.852.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | Christian Münch |
SpeciesList | scientific name: Mus musculus (Mouse); NCBI TaxID: 10090; |
ModificationList | No PTMs are included in the dataset |
Instrument | Q Exactive HF |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2024-03-18 10:53:23 | ID requested | |
⏵ 1 | 2024-03-19 00:49:38 | announced | |
Publication List
Keyword List
submitter keyword: autophagy,TBK1 |
Contact List
Christian Meunch |
contact affiliation | Institute of Biochemistry II, Faculty of Medicine, Goethe University Frankfurt, Frankfurt, Germany. |
contact email | ch.muench@em.uni-frankfurt.de |
lab head | |
Christian Münch |
contact affiliation | Goethe University Frankfurt |
contact email | ch.muench@em.uni-frankfurt.de |
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/2024/03/PXD050731 |
PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD050731
- Label: PRIDE project
- Name: TBK1 p.E696K mutation causes autophagolysosomal dysfunction and ALS/FTD-like symptoms in mice