Articles with "therapies abca3" as a keyword



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First Steps toward Personalized Therapies for ABCA3 Deficiency

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Published in 2022 at "American Journal of Respiratory Cell and Molecular Biology"

DOI: 10.1165/rcmb.2021-0405ed

Abstract: The ABCA3 (ATP-binding cassette transporter A3) protein transports phospholipids from the cytoplasm into lamellar bodies in alveolar type II cells (AEC2s) and is critical for pulmonary surfactant synthesis and function. Biallelic pathogenic ABCA3 variants cause… read more here.

Keywords: first steps; steps toward; therapies abca3; toward personalized ... See more keywords