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Truncated titin detection in TTNtv positive DCM human myocardium via patient and allele specific proteomics.

ABSTRACT: Premature termination codons in the gene coding for titin are known to cause dilated cardiomyopathy in humans, but it has been unclear whether or not the expected truncated protein is expressed in the human heart, potentially causing DCM. We have shown using per patient allele specific proteomics that truncated titin is expressed in human myocardium in patients with truncations in those exons retained in the spliced titin transcript. Proteomics were run at Taplin Mass Spectrometry Facility, Harvard University. Filename denotes patient number-gel slice-enzyme-fileID See: Q. McAfee et al., Sci. Transl. Med.10.1126/scitranslmed.abd7287 for a complete description of the experiment.

INSTRUMENT(S): LTQ Orbitrap Velos Pro

ORGANISM(S): Homo Sapiens (ncbitaxon:9606)

SUBMITTER: Benjamin Prosser Zolt Arany

PROVIDER: MSV000088275 | MassIVE | Wed Oct 27 22:03:00 BST 2021

SECONDARY ACCESSION(S): PXD029387

REPOSITORIES: MassIVE

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