PXD056037 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | TANGO2 binds crystallin alpha B and its loss causes desminopathy |
Description | Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown. To investigate the function of TANGO2, we knocked out the TANGO2 gene in human cells and mice. We identify that loss of TANGO2 impairs intermediate filament structure, resulting in fragmented mitochondrial networks and formation of cup-like mitochondria. In mice loss of TANGO2 caused heart defects, reduced muscle function and hypoglycemia that were caused by remodelling of intermediate filaments, resulting in changes in the mitochondrial and cytoplasmic proteomes and glycosylation. We identify that TANGO2 binds the small heat shock protein crystallin alpha B (CRYAB) to prevent the aggregation of the intermediate filament desmin and in the absence of TANGO2, mice develop desminopathy, which is consistent with features found in patients carrying mutations either in desmin or CRYAB. |
HostingRepository | PRIDE |
AnnounceDate | 2025-04-22 |
AnnouncementXML | Submission_2025-04-21_21:44:53.540.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | Timothy McCubbin |
SpeciesList | scientific name: Mus musculus (Mouse); NCBI TaxID: 10090; scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
ModificationList | acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue |
Instrument | Orbitrap Exploris 480 |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2024-09-19 23:25:38 | ID requested | |
⏵ 1 | 2025-04-21 21:44:53 | announced | |
Publication List
Dataset with its publication pending |
Keyword List
submitter keyword: Human, heart, DIA, brain, liver, mouse, TANGO2 |
Contact List
Aleksandra Filipovska |
contact affiliation | Centre for Medical Research, The University of Western Australia, QEII Medical Centre, Nedlands, Western Australia 6009, Australia |
contact email | aleksandra.filipovska@uwa.edu.au |
lab head | |
Timothy McCubbin |
contact affiliation | University of Queensland |
contact email | t.mccubbin@uq.edu.au |
dataset submitter | |
Full Dataset Link List
Dataset FTP location
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PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD056037
- Label: PRIDE project
- Name: TANGO2 binds crystallin alpha B and its loss causes desminopathy