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ProteomicsFunctional analysis of a gene-edited mouse to gain insights into the disease mechanisms of a TITIN missense variant
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
Proteomics Proteo-toxic response Telethonin Mouse model Proteasome Titin missense variant Cardiomyopathy 
Proteomicsproteotoxic stress response in in-vitro 2 human neuronal models 3
We used an untargeted pro-24 teomic approach using liquid chromatography-tandem mass spectrometry (LC-MS/MS) to identify 25 and characterize time-series proteome-wide changes in dose-responsive mild and extreme proteo-26 toxic stress models in medulloblastoma [Daoy], neuroblastoma [SH-SY5Y] and diff...
ORGANISM(S): Homo sapiens (Human) 
2025-08-25 | PXD051826 | Pride
Neurons  proteostasis  heat shock  proteotoxic stress  stress response  proteomics 
UnknownPossible Contribution of Zerumbone-Induced Proteo-Stress to Its Anti-Inflammatory Functions via the Activation of Heat Shock Factor 1.
Not available
S-EPMC4990220 | biostudies-literature
UnknownFunctional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.
Not available
S-EPMC7910237 | biostudies-literature
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