ArticleAmerican journal of physiology. Lung cellular and molecular physiology2021
The common ABCA3
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Article in American journal of physiology. Lung cellular and molecular physiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23citing papers in PubMed
3.2field-weighted citation impact, top 7% of its field
What it found
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Who cites it
23 citing papers in PubMed, 31 citations in OpenAlex.
- Lentiviral-mediated gene complementation to rescue pathogenic ABCA3 variants.American journal of respiratory cell and molecular biology · 2026Article
- Respiratory Outcomes in Children With Neonatal Respiratory Distress Syndrome and Monoallelic ABCA3 Variants.Pediatric pulmonology · 2026Article
- Advances in our understanding of distal progenitors in idiopathic pulmonary fibrosis: implications for novel therapeutics.The European respiratory journal · 2026Review
- Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.Pediatric pulmonology · 2025Article
- Lentiviral-mediated gene complementation rescues pathogenicbioRxiv : the preprint server for biology · 2025Article
- Article
- Genetic Disorders of Surfactant Metabolism.NeoReviews · 2025Review
- THERAPIES FOR NEONATAL DISEASES OF THE SURFACTANT SYSTEM.Transactions of the American Clinical and Climatological Association · 2025Review
- Autophagy in the lung: guardian of homeostasis or driver of disease.Autophagy reports · 2025Review
- Cyclosporine A in children with ABCA3 deficiency.Pediatric pulmonology · 2024Article
- Innovations in Childhood Interstitial and Diffuse Lung Disease.Clinics in chest medicine · 2024Review
- Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations.The Journal of clinical investigation · 2024Article
- Towards personalized therapies for genetic disorders of surfactant dysfunction.Seminars in fetal & neonatal medicine · 2023Review
- Neonatal hyperoxia induces activated pulmonary cellular states and sex-dependent transcriptomic changes in a model of experimental bronchopulmonary dysplasia.American journal of physiology. Lung cellular and molecular physiology · 2023Article
- Rare surfactant-related variants in familial and sporadic pulmonary fibrosis.Human mutation · 2022Article
- Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective.Diagnostics (Basel, Switzerland) · 2022Review
- Gene Therapeutics for Surfactant Dysfunction Disorders: Targeting the Alveolar Type 2 Epithelial Cell.Human gene therapy · 2022Review
- Insights into the Pathogenesis of Pulmonary Fibrosis from Genetic Diseases.American journal of respiratory cell and molecular biology · 2022Review
- First Steps toward Personalized Therapies for ABCA3 Deficiency.American journal of respiratory cell and molecular biology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 7 institutions in 2 countries.
Yaniv TomerDivision of Pulmonary, Allergy, and Critical Care, Department of Medicine, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania.
Jennifer WambachDivision of Newborn Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
Lars KnudsenInstitute of Functional and Applied Anatomy, Hannover Medical School, Hannover, Germany.
Ming ZhaoDivision of Pulmonary, Allergy, and Critical Care, Department of Medicine, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania.
Luis R RodriguezDivision of Pulmonary, Allergy, and Critical Care, Department of Medicine, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania.
Aditi MurthyDivision of Pulmonary, Allergy, and Critical Care, Department of Medicine, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania.
Frances V WhiteDeparment of Pathology & Immunology, Washington University School of Medicine, St. Louis, Missouri.
Alessandro VenosaDepartment of Pharmacology and Toxicology, University of Utah, Salt Lake City, Utah.ORCID 0000-0003-3741-2634
Jeremy KatzenDivision of Pulmonary, Allergy, and Critical Care, Department of Medicine, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania.
Matthias OchsInstitute of Functional Anatomy, Charité - Universitaetsmedizin Berlin, Berlin, Germany.ORCID 0000-0002-0936-6979
Aaron HamvasDivision of Neonatology, Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Michael F BeersDivision of Pulmonary, Allergy, and Critical Care, Department of Medicine, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania.ORCID 0000-0002-2149-3209
Surafel MulugetaDivision of Pulmonary, Allergy, and Critical Care, Department of Medicine, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania.ORCID 0000-0002-8734-8688
University of Pennsylvania · USChildren's Hospital of Philadelphia · USWashington University in St. Louis · USGerman Center for Lung Research · DEMedizinische Hochschule Hannover · DENorthwestern University · USUniversity of Utah · US
Funding
Translational Research Support CoreP30ES013508 · NIEHS · UNIVERSITY OF PENNSYLVANIA · PI Trevor M Penning · 2006 to 2026
$35.3MTRAINING IN PULMONARY IMMUNOLOGYT32HL007586 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI MEYER, NUALA JENNINGS · 1985 to 2025
$8.8MAlveolar Epithelial Cell Dysfunction in Pulmonary Fibrosis: Leveraging SFTPC Mutations for Discovery of Molecular and Cellular TargetsR01HL145408 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI MICHAEL FRANCIS BEERS · 2019 to 2026
$4.6MFunctional Characterization of ABCA3 Genomic VariantsR01HL149853 · NHLBI · WASHINGTON UNIVERSITY · PI Jennifer Wambach · 2020 to 2026
$3.9MThe Biology of the ABCA3 Lipid Transporter in Health and DiseaseR01HL129150 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI MULUGETA, SURAFEL · 2016 to 2019
$1.9MUnderstanding how alveolar epithelial cell stress drives aberrant repair in interstitial lung diseaseK08HL150226 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI KATZEN, JEREMY BINDER · 2020 to 2024
$840kSurfactant Protein C Mutations and Interstitial Lung DiseaseI01BX001176 · VA · PHILADELPHIA VA MEDICAL CENTER · PI MICHAEL FRANCIS BEERS · 2012 to 2026
–BLRD VA I01 BX001176HHS | NIH | National Heart, Lung, and Blood Institute (NHLBI) HL145408HHS | NIH | National Heart, Lung, and Blood Institute (NHLBI) HL150226HHS | NIH | National Institute of Environmental Health Sciences (NIEHS) P30ES013508NHLBI NIH HHS K08 HL150226NHLBI NIH HHS R01 HL129150NHLBI NIH HHS R01 HL145408NHLBI NIH HHS R01 HL149853NHLBI NIH HHS T32 HL007586NIEHS NIH HHS P30 ES013508
Abstract
ATP-binding cassette class A3 (ABCA3) is a lipid transporter that plays a critical role in pulmonary surfactant function. The substitution of valine for glutamic acid at codon 292 (E292V) produces a hypomorphic variant that accounts for a significant portion of
Indexed as
Alveolar Epithelial CellsATP-Binding Cassette TransportersAutophagyGene Expression RegulationLung InjuryMutation, MissenseAmino Acid SubstitutionAnimalsMiceMice, Mutant StrainsPulmonary FibrosisRespiratory Distress Syndrome, NewbornAbca3 protein, mouseATP-Binding Cassette TransportersABCA3autophagydiffuse parenchymal lung diseaselung epitheliumpulmonary fibrosis
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What OpenQuestion holds
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.