Proteomics

Dataset Information

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Volpatti_Myopathy_P124_Lumos_VS8


ABSTRACT: This dataset consists of 9 raw MS files, acquired on Orbitrap Fusion Lumos Tribrid mass spectrometer operated in Data Dependent Acquisition mode. Cells and lysates were generated by Jonathan Volpatti. Sample processing and mass spectrometry acquisition was performed by Cassandra Wong. Data analysis was performed by Cassandra Wong and Jonathan Volpatti. The files are associated with a manuscript submitted for publication by Jonathan Volpatti et al. The main goal of this paper was to understand underlying X-linked myotubular myopathies (XLMTM) disease pathomechanisms and identify potential therapies. James J. Dowling is the corresponding author of the manuscript (james.dowling@sickkids.ca); Karen Colwill should be contacted for questions on this dataset (colwill@lunenfeld.ca) This submission is associated with 3 Supplementary Files (in addition to this README file) Table 1 describes the composition of this dataset Table 2 describes all protein, peptide and PSM (peptide spectral match) evidence Table 3 describes only protein level analysis

INSTRUMENT(S): Orbitrap Fusion Lumos

ORGANISM(S): Mus Musculus (ncbitaxon:10090)

SUBMITTER: Karen Colwill  

PROVIDER: MSV000089872 | MassIVE | Tue Jul 12 12:00:00 BST 2022

SECONDARY ACCESSION(S): PXD035277

REPOSITORIES: MassIVE

Dataset's files

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Publications


X-linked myotubular myopathy (XLMTM) is a fatal neuromuscular disorder caused by loss of function mutations in MTM1. At present, there are no directed therapies for XLMTM, and incomplete understanding of disease pathomechanisms. To address these knowledge gaps, we performed a drug screen in mtm1 mutant zebrafish and identified four positive hits, including valproic acid, which functions as a potent suppressor of the mtm1 zebrafish phenotype via HDAC inhibition. We translated these findings to a  ...[more]

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