Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Editorial
. 2022 Apr;66(4):349-350.
doi: 10.1165/rcmb.2021-0405ED.

First Steps toward Personalized Therapies for ABCA3 Deficiency

Jennifer A Wambach  1 , Lawrence M Nogee  2 , F Sessions Cole  1
Affiliations
Editorial

First Steps toward Personalized Therapies for ABCA3 Deficiency

Jennifer A Wambach et al. Am J Respir Cell Mol Biol. 2022 Apr.
No abstract available

PubMed Disclaimer

Comment on

References

    1. Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med . 2004;350:1296–1303. - PubMed
    1. Wambach JA, Casey AM, Fishman MP, Wegner DJ, Wert SE, Cole FS, et al. Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Am J Respir Crit Care Med . 2014;189:1538–1543. - PMC - PubMed
    1. Kröner C, Wittmann T, Reu S, Teusch V, Klemme M, Rauch D, et al. Lung disease caused by ABCA3 mutations. Thorax . 2017;72:213–220. - PubMed
    1. Klay D, Platenburg MGJP, van Rijswijk RHNAJ, Grutters JC, van Moorsel CHM. ABCA3 mutations in adult pulmonary fibrosis patients: a case series and review of literature. Curr Opin Pulm Med . 2020;26:293–301. - PubMed
    1. Tomer Y, Wambach J, Knudsen L, Zhao M, Rodriguez LR, Murthy A, et al. The common ABCA3E292V variant disrupts AT2 cell quality control and increases susceptibility to lung injury and aberrant remodeling. Am J Physiol Lung Cell Mol Physiol . 2021;321:L291–L307. - PMC - PubMed

MeSH terms

Substances