In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns.

Debus JD, Milting H, Brodehl A, Kassner A, Anselmetti D, Gummert J, Gaertner-Rommel A (2019)
Journal of molecular and cellular cardiology 129: 303-333.

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Zeitschriftenaufsatz | Veröffentlicht | Englisch
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Abstract / Bemerkung
Arrhythmogenic right ventricular cardiomyopathy is a heritable cardiac disease causing severe ventricular arrhythmias, heart failure and sudden cardiac death. It is mainly caused by mutations in genes encoding several structural proteins of the cardiac desmosomes including the DSG2 gene encoding the desmosomal cadherin desmoglein-2. Although the molecular structure of the extracellular domain of desmoglein-2 is known, it remains an open question, how mutations in DSG2 contribute to the pathogenesis of arrhythmogenic right ventricular cardiomyopathy. In the present study, we analyzed the impact of different DSG2 mutations on the glycosylation pattern using de-glycosylation assays, lectin blot analysis and genetic inhibition studies. Remarkably, wildtype and mutant desmoglein-2 displayed different glycosylation patterns, although the investigated DSG2 mutations do not directly affect the consensus sequences of the N-glycosylation sites. Our study reveals complex molecular interactions between DSG2 mutations and N-glycosylations of desmoglein-2, which may contribute to the molecular understanding of the patho-mechanisms associated with arrhythmogenic right ventricular cardiomyopathy. Copyright © 2019. Published by Elsevier Ltd.
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Zeitschriftentitel
Journal of molecular and cellular cardiology
Band
129
Seite(n)
303-333
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Debus JD, Milting H, Brodehl A, et al. In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns. Journal of molecular and cellular cardiology. 2019;129:303-333.
Debus, J. D., Milting, H., Brodehl, A., Kassner, A., Anselmetti, D., Gummert, J., & Gaertner-Rommel, A. (2019). In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns. Journal of molecular and cellular cardiology, 129, 303-333. doi:10.1016/j.yjmcc.2019.03.014
Debus, J. D., Milting, H., Brodehl, A., Kassner, A., Anselmetti, D., Gummert, J., and Gaertner-Rommel, A. (2019). In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns. Journal of molecular and cellular cardiology 129, 303-333.
Debus, J.D., et al., 2019. In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns. Journal of molecular and cellular cardiology, 129, p 303-333.
J.D. Debus, et al., “In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns.”, Journal of molecular and cellular cardiology, vol. 129, 2019, pp. 303-333.
Debus, J.D., Milting, H., Brodehl, A., Kassner, A., Anselmetti, D., Gummert, J., Gaertner-Rommel, A.: In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns. Journal of molecular and cellular cardiology. 129, 303-333 (2019).
Debus, Jana Davina, Milting, Hendrik, Brodehl, Andreas, Kassner, Astrid, Anselmetti, Dario, Gummert, Jan, and Gaertner-Rommel, Anna. “In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns.”. Journal of molecular and cellular cardiology 129 (2019): 303-333.

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