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Profiling Genetic Diversity Reveals the Molecular Basis for Balancing Function with Misfolding in Alpha-1 Antitrypsin

2022-03-04

Abstract excerpt

Genetic variation of alpha-1 antitrypsin (AAT) is responsible for alpha-1-antitrypsin deficiency (AATD) leading to gain-of-toxic aggregation in the liver and loss-of-function on n eutrophil e lastase (NE) inhibitory activity in the lung contributing to c hronic o bstructive p ulmonary d isease (COPD) during aging. To probe the molecular basis for how biology designs the protein fold to achieve balance betwee...

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Literature Corpus work: 1862cab2-37f0-5eec-a6e4-23938a18a009
DOI: 10.1101/2022.03.04.483066

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