PXD050340-1

PXD050340 is an original dataset announced via ProteomeXchange.

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

Revision	Datetime	Status	ChangeLog Entry
0	2024-03-04 17:31:13	ID requested
⏵ 1	2025-05-06 13:36:09	announced

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;

submitter keyword: Mistranslation, proteomics, Charcot-MArie-Tooth Disease

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

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

• PRIDE
  1. PXD050340
     1. Label: PRIDE project
     2. Name: Transfer RNA supplementation rescues HARS deficiency in a humanized yeast model of Charcot-Marie-Tooth Disease