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RNA-Seq analysis of human Titin sequence variation and gene expression in DCM patients. The provided data files contain information for reads that map to human Titin only.
ORGANISM(S): Homo sapiens 
Proximity proteomics has greatly advanced the analysis of native protein complexes and subcellular structures in culture, but has not been amenable to study development and disease in vivo. Here, we generated a knock-in mouse with the biotin ligase (BioID) inserted at titin’s Z-disc region to identi...
ORGANISM(S): Mus musculus (Mouse) 
2020-05-18 | PXD017341 | Pride
MuRF1 mediated ubiquitination of titin promotes autophagy machinery recruitment onto titin. Titin ubiquitination appears dynamically regulated by myofibrillar stretch via the unfolding of an NL linker sequence, leading to different ubiquitination patterns of the chain. This mechanism might be compro...
ORGANISM(S): Homo sapiens (Human) 
2021-06-23 | PXD015340 | Pride
MuRF1 mediated ubiquitination of titin promotes autophagy machinery recruitment onto titin. Titin ubiquitination appears dynamically regulated by myofibrillar stretch via the unfolding of an NL linker sequence, leading to different ubiquitination patterns of the chain. This mechanism might be compro...
ORGANISM(S): Homo sapiens (Human) 
2021-06-23 | PXD015339 | Pride
RNAseq of WT and TEVsite-titin (TEVs-TTN) neonatal mouse cardiomyocytes before and after titin cleavage with TEV protease (TEVp) expression.
ORGANISM(S): Mus musculus 
The relationship between oxidative stress and cardiac stiffness is thought to involve modifications to the giant muscle protein titin, which in turn can determine the progression of heart disease. In vitro studies have shown that S-glutathionylation and disulfide bonding of titin fragments could alt...
ORGANISM(S): Mus musculus (Mouse) 
2020-09-15 | PXD018174 | Pride
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 ...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2021-10-27 | MSV000088275 | MassIVE
Aims: Pathogenic truncating variants in the largest human protein TITIN are a leading cause of dilated cardiomyopathy. Because of the size of the gene encoding TITIN, many missense variations are identified. These are difficult to evaluate in genetic testing, as even individually rare variants are c...
ORGANISM(S): Mus musculus (Mouse) 
2021-03-01 | PXD020390 | Pride
Purpose: Ribosome profiling and RNA-Seq were used to map the location and abundance of translating ribosomes on mouse heart and skeletal muscle transcripts. Methods: Tissue was rapidly harvested and snap-frozen to minimize bias to the pool of translating ribosomes. RNA was prepared from a single ho...
ORGANISM(S): Mus musculus 
We investigated the impact of smooth-muscle–specific deletion of titin M-band exons 1–2. Understanding how disruption of titin M-band signaling alters uterine smooth-muscle physiology provides insight into the molecular mechanisms controlling coordinated uterine peristalsis, embryo positioning, and ...
ORGANISM(S): Mus musculus 
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