Proteomics

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Sarikaya_HistoryMyopathy_P124_OrbiElite

ABSTRACT: This dataset consists of 4 raw MS files, acquired on Orbitrap Elite mass spectrometer operated in Data Dependent Acquisition mode. Samples were generated by Ege Sarikaya. Sample processing was performed by Ege Sarikaya and Cassandra Wong. Mass spectrometry acquisition and data analysis was performed by Cassandra Wong. The files are associated with a manuscript submitted for publication by Ege Sarikaya et al. The paper performed a natural history study of Mtm1 KO mice to better understand X-linked myotubular myopathy (XLMTM) disease pathomechanisms. 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 File (in addition to this README file) Table 1 describes the composition of this dataset Table 2 lists all the peptide evidence (as per iProphet) Table 3 lists the SAINTexpress interactions

INSTRUMENT(S): LTQ Orbitrap Elite

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

SUBMITTER: Karen Colwill  

PROVIDER: MSV000089844 | MassIVE | Thu Jul 07 11:09:00 BST 2022

SECONDARY ACCESSION(S): PXD035163

REPOSITORIES: MassIVE

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Publications

Natural history of a mouse model of X-linked myotubular myopathy.

Sarikaya Ege E   Sabha Nesrin N   Volpatti Jonathan J   Pannia Emanuela E   Maani Nika N   Gonorazky Hernan D HD   Celik Alper A   Liang Yijng Y   Onofre-Oliveira Paula P   Dowling James J JJ  

Disease models & mechanisms 20220725 7

X-linked myotubular myopathy (XLMTM) is a severe monogenetic disorder of the skeletal muscle. It is caused by loss-of-expression/function mutations in the myotubularin (MTM1) gene. Much of what is known about the disease, as well as the treatment strategies, has been uncovered through experimentation in pre-clinical models, particularly the Mtm1 gene knockout mouse line (Mtm1 KO). Despite this understanding, and the identification of potential therapies, much remains to be understood about XLMTM  ...[more]

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