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Showing 1–4 of 4 results
Advanced filters: Author: Benjamin Hetzer Clear advanced filters

  • ATF6α activation in human and preclinical models of hepatocellular carcinoma is significantly associated with an aggressive tumour phenotype characterized by reduced survival, glycolytic reprogramming and local immunosuppression.

    • Xin Li
    • Cynthia Lebeaupin
    • Mathias Heikenwälder
    ResearchOpen Access
    Nature
    P: 1-12

  • David Hassel et al. show that mutations affecting the protein nexilin underlie an unusual type of dilated cardiomyopathy characterized by disrupted Z-disk structures in cardiac muscle. Functional studies in zebrafish revealed that nexilin has an essential role in maintaining Z-disk stability and suggested that the disease-causing nexilin mutations found in humans encode proteins that act in a dominant-negative fashion.

    • David Hassel
    • Tillman Dahme
    • Wolfgang Rottbauer
    Research
    Nature Medicine
    Volume: 15, P: 1281-1288

  • Alternative splicing affects the function of many cardiac proteins, including that of the sarcomeric protein titin. Wei Guo et al. now show that the gene RBM20, previously identified as mutated in some individuals with dilated cardiomyopathy, is a splicing factor that regulates the alternative splicing of the gene encoding titin and many other key cardiac genes.

    • Wei Guo
    • Sebastian Schafer
    • Michael Gotthardt
    Research
    Nature Medicine
    Volume: 18, P: 766-773