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Titin mutations as the molecular basis for dilated cardiomyopathy.
Observations suggest that titin mutations may cause DCM in a subset of the patients, and one of them was a nonsense mutation presumably encoding for a truncated nonfunctional molecule. Expand
Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies.
The results demonstrate that LmnaH 222P/H222P mice represent a good model for studying laminopathies affecting striated muscles as they develop a dystrophic condition of both skeletal and cardiac muscles similar to the human diseases. Expand
Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy.
It is shown that activation of MAPK pathways preceded clinical signs or detectable molecular markers of cardiomyopathy, and could be a cornerstone in the development of heart disease in autosomal dominant Emery-Dreifuss muscular dystrophy. Expand
Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
Observations suggest that the difference in clinical phenotype (HCM or DCM) may be correlated with the property of altered binding among the Z-disc components. Expand
Autophagic degradation of nuclear components in mammalian cells
The presence of perinuclear autophagosomes/autolysosomes containing nuclear components in nuclear envelopathies caused by mutations in the genes encoding A-type lamins and emerin is demonstrated, suggesting a beneficial role of autophagy, at least in these cells. Expand
Dilated cardiomyopathy‐associated BAG3 mutations impair Z‐disc assembly and enhance sensitivity to apoptosis in cardiomyocytes
Functional studies at the cellular level revealed that the DCM‐associated BAG3 mutations impaired the Z‐disc assembly and increased the sensitivities to stress‐induced apoptosis, which suggested that B AG3 mutations present in 2.8% of Japanese familial DCM patients caused DCM possibly by interfering with Z‐ Disc assembly and inducing apoptotic cell death under the metabolic stress. Expand
Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.
Abnormalities in Z-disc proteins cause hypertrophic (HCM), dilated (DCM) and/or restrictive cardiomyopathy (RCM), but disease-causing mechanisms are not fully understood. Myopalladin (MYPN) is aExpand
Structural analysis of obscurin gene in hypertrophic cardiomyopathy.
Functional analyses demonstrated that Arg4344Gln affected binding of obscurin to Z9-Z10 domains of titin/connectin, whereas Ala4484Thr did not, suggesting that the obscurIn abnormality may be involved in the pathogenesis of HCM. Expand
A Cypher/ZASP Mutation Associated with Dilated Cardiomyopathy Alters the Binding Affinity to Protein Kinase C*
It was demonstrated by both assays that the D626N mutation of Cypher/ZASP increased the affinity of the LIM domain for protein kinase C, suggesting a novel biochemical mechanism of the pathogenesis of dilated cardiomyopathy. Expand
Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy.
The impaired binding of PGM1 to ZASP/Cypher might be involved in the pathogenesis of DCM, which is found to be enhanced by stress in rat cardiomyocytes. Expand