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Article

Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation.

JCI insight - 15 Oct 2020

Lu Po-Nien, Moreland Trevor, Christian Courtney J, Lund Troy C, Steet Richard A, Flanagan-Steet Heather

Abstract excerpt

Although congenital heart defects (CHDs) represent the most common birth defect, a comprehensive understanding of disease etiology remains unknown. This is further complicated since CHDs can occur in isolation or as a feature of another disorder. Analyzing disorders with associated CHDs provides a powerful platform to identify primary pathogenic mechanisms driving disease. Aberrant localization and expression of...

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Share to Cathepsin K
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Share to Heart Defects, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Valves

Share to Lysosomal Storage Diseases

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Share to Transferases (Other Substituted Phosphate Groups)

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Source

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Identifiers

PMID: 33055423
DOI: 10.1172/jci.insight.133019
PMCID: PMC7605527

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