PXD050340 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | Transfer RNA supplementation rescues HARS deficiency in a humanized yeast model of Charcot-Marie-Tooth Disease |
Description | Aminoacyl-tRNA synthetases are indispensable enzymes in all cells, ensuring the correct pairing of amino acids to their cognate tRNAs to maintain translational fidelity. Autosomal dominant mutations V133F and Y330C in histidyl-tRNA synthetase (HARS) cause the genetic disorder Charcot-Marie-Tooth type 2W (CMT2W). HARS V133F and Y330C cause mistranslation as validated by mass spectrometry and growth defects that persist with histidine supplementation. The growth defects and translation fidelity for both V133F and Y330C mutants were rescued by supplementation with human tRNAHis in a humanized yeast model. |
HostingRepository | PRIDE |
AnnounceDate | 2025-05-06 |
AnnouncementXML | Submission_2025-05-06_13:36:08.784.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | Kyle Hoffman |
SpeciesList | scientific name: Saccharomyces cerevisiae (Baker's yeast); NCBI TaxID: 4932; |
ModificationList | monohydroxylated residue; deamidated residue; iodoacetamide derivatized residue |
Instrument | Orbitrap Exploris 240 |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2024-03-04 17:31:13 | ID requested | |
⏵ 1 | 2025-05-06 13:36:09 | announced | |
Publication List
Wilhelm SDP, Kakadia JH, Beharry A, Kenana R, Hoffman KS, O'Donoghue P, Heinemann IU, Transfer RNA supplementation rescues HARS deficiency in a humanized yeast model of Charcot-Marie-Tooth disease. Nucleic Acids Res, 52(22):14043-14060(2024) [pubmed] |
10.1093/nar/gkae996; |
Keyword List
submitter keyword: Mistranslation, proteomics, Charcot-MArie-Tooth Disease |
Contact List
Ilka Heinemann |
contact affiliation | Schulich School of Medicine and Dentistry, Biochemistry Department, Western University, Ontario, Canada |
contact email | iheinema@uwo.ca |
lab head | |
Kyle Hoffman |
contact affiliation | Bioinformatics Solutions Inc. |
contact email | khoffman@bioinfor.com |
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/2025/05/PXD050340 |
PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD050340
- Label: PRIDE project
- Name: Transfer RNA supplementation rescues HARS deficiency in a humanized yeast model of Charcot-Marie-Tooth Disease