The research report should be a detailed narrative explaining the function, biological processes, and localization of the gene product. Citations should be given for all claims.
You should prioritize authoritative reviews and primary scientific literature when conducting research. You can supplement
this with annotations you find in gene/protein databases, but these can be outdated or inaccurate.
We are specifically interested in the primary function of the gene - for enzymes, what reaction is catalyzed, and what is the substrate specificity? For transporters, what is the substrate? For structural proteins or adapters, what is the broader structural role? For signaling molecules, what is the role in the pathway.
We are interested in where in or outside the cell the gene product carries out its function.
We are also interested in the signaling or biochemical pathways in which the gene functions. We are less interested in broad pleiotropic effects, except where these elucidate the precise role.
Include evidence where possible. We are interested in both experimental evidence as well as inference from structure, evolution, or bioinformatic analysis. Precise studies should be prioritized over high-throughput, where available.
Identity is verified. The requested target is human ABCA3 (ATP binding cassette subfamily A member 3; UniProt Q99758), not a similarly named gene from another organism. Published human structural and disease studies identify the same 1,704-amino-acid ABCA-family transporter and agree with the supplied AAA+ ATPase/ABC-transporter and ABC2 transmembrane-domain annotations. No conflicting ABCA3 identity was found.
ABCA3 is an ATP-driven lipid transporter in the limiting membrane of lamellar bodies, lysosome-related secretory organelles of alveolar type II epithelial cells. Its principal physiological function is to load surfactant phospholipids—most convincingly phosphatidylcholine (PC) and phosphatidylglycerol (PG)—into lamellar bodies, thereby enabling lamellar-body biogenesis and pulmonary-surfactant assembly, storage and secretion. Cholesterol and sphingomyelin are additional candidate substrates supported by cell-based experiments, but direct translocation of each lipid by purified ABCA3 has not been conclusively demonstrated. ABCA3 deficiency therefore compromises both surfactant lipid composition and the organelle that packages surfactant.
| Topic | Current conclusion | Strongest evidence | Confidence / caveat |
|---|---|---|---|
| Identity | ABCA3, UniProt Q99758, is human ATP-binding cassette subfamily A member 3; no conflicting gene identity was found. | Human structural and disease studies consistently identify ABCA3 as a pulmonary-surfactant lipid transporter. (xie2022cryoemstructuresof pages 1-2, sun2024humanpluripotentstem pages 1-2) | High. Organism, symbol, description and protein family are concordant. |
| Architecture | A 1,704-aa type V full ABC transporter with two homologous halves, each containing six transmembrane helices, one nucleotide-binding domain, one exocytosolic domain and one regulatory domain. | Human cryo-EM resolved the paired TMD, NBD, ECD and RD modules at 3.3 Å. (xie2022cryoemstructuresof pages 1-2, xie2022cryoemstructuresof pages 3-5) | High. Some flexible loops and regulatory-region details remain unresolved. |
| Localization | Predominantly resides in the limiting membrane of lysosome-related lamellar bodies in alveolar type II cells; immature or misfolded mutants may be retained in the endoplasmic reticulum. | Imaging of endogenous and recombinant protein with lysosomal and lamellar-body markers in human alveolar cells. (cheong2006functionalandtrafficking pages 3-4, cheong2006functionalandtrafficking pages 1-1) | High for pulmonary localization; extra-pulmonary functions are poorly defined. |
| Transport mechanism | ATP binding closes the NBDs and collapses lateral TMD cavities, supporting an ATP-driven lateral-access-and-extrusion cycle from the cytosolic membrane leaflet toward the lamellar-body lumen; hydrolysis resets the transporter. | Nucleotide-free and ATP-bound human cryo-EM structures plus ATPase-disrupting catalytic substitutions. (xie2022cryoemstructuresof pages 5-6, xie2022cryoemstructuresof pages 2-3, xie2022cryoemstructuresof pages 6-9) | Moderate–high. Structural evidence is compelling, but purified-protein lipid-flux assays remain limited. |
| Principal substrates | Phosphatidylcholine and phosphatidylglycerol are the best-supported physiological substrates and major surfactant lipids loaded into lamellar bodies. | Cell-based uptake, knockdown and lipid-composition studies, supported by lipid-like cryo-EM densities and pulmonary phenotypes. (paolini2015structuralfeaturesof pages 1-3, cheong2006functionalandtrafficking pages 8-9, xie2022cryoemstructuresof pages 1-2) | Moderate. Exact molecular selectivity has not been conclusively established in a purified reconstituted system. |
| Other candidate substrates | Cholesterol and sphingomyelin show ABCA3-dependent vesicular uptake or colocalization; phosphatidylethanolamine was unaffected in a key knockdown study. | Gain- and loss-of-function fluorescent-lipid experiments in lung and heterologous cells. (cheong2006functionalandtrafficking pages 1-1, cheong2006functionalandtrafficking pages 8-9) | Low–moderate. Cellular effects may reflect indirect lipid trafficking rather than direct translocation. |
| Proteolytic maturation | ABCA3 is processed in ECD1 near Lys174, generating associated N- and C-terminal fragments; lower-mass species include the annotated approximately 150-kDa mature form. | Deletion mapping, glycosylation analysis and coexpression of residues 1–174 with residues 175–1704. (cheong2006functionalandtrafficking pages 3-4, xie2022cryoemstructuresof pages 2-3, xie2022cryoemstructuresof pages 1-2) | Moderate–high for the cleavage region and fragment association; the protease, exact bond, compartment and purpose remain uncertain. |
| Physiological role | ABCA3-mediated lipid loading drives lamellar-body biogenesis and surfactant assembly, storage and secretion, thereby supporting low alveolar surface tension and postnatal gas exchange. | Knockdown causes abnormal lamellar bodies and reduced lipid loading; knockout mice lack normal lamellar bodies and die from respiratory failure. (cheong2006functionalandtrafficking pages 1-1) | High. This is the primary validated function. |
| Disease and inheritance | Biallelic autosomal-recessive pathogenic variants cause pulmonary surfactant dysfunction, from lethal neonatal respiratory distress to childhood or adult interstitial lung disease. Mechanisms include misfolding, ER retention and defective ATP hydrolysis or lipid transport. | Human genetics, cellular variant assays and structural mapping of disease-associated residues. (anciuccrauciuc2024descriptiveandfunctional pages 8-9, flamein2012molecularandcellular pages 1-2, xie2022cryoemstructuresof pages 5-6) | High for biallelic disease; the severity of individual missense variants can be difficult to predict. |
| 2023 natural history | Among 44 patients surviving beyond age one, 36/44 (82%) were alive without transplantation at last observation; FVC and FEV1 declined by about 1.1 and 1.7 percentage points predicted per year. One-year survival was 67.6% for hypo/hypo, 62.5% for hypo/null and 15.4% for null/null genotypes. | Twenty-one-year Kids Lung Register cohort with longitudinal physiology, imaging and genotype classification. (li2023abca3relatedinterstitiallung pages 4-4, li2023abca3relatedinterstitiallung pages 1-1, li2023abca3relatedinterstitiallung pages 3-4) | Moderate. Registry selection, missing serial data and partly in-silico residual-function assignments limit generalizability. |
| 2024 iAEC2 advance | Patient-specific and CRISPR-corrected induced alveolar type II cells reproduced reduced surfactant secretion and variant-specific trafficking and lamellar-body defects, while revealing reduced progenitor capacity, increased NF-κB activity and pro-inflammatory cytokine production. | Genetically matched human iPSC-derived alveolar epithelial models, ABCA3:GFP reporters, RNA sequencing and functional assays. (sun2024humanpluripotentstem pages 1-2, sun2024humanpluripotentstem pages 13-14) | High as a mechanistic model; clinical predictive validity and therapeutic translation remain unestablished. |
| Current therapy | Care is principally supportive. Steroids, macrolides and hydroxychloroquine are used empirically, but controlled efficacy is unproven; lung transplantation is the only established definitive option for severe progressive disease. Pharmacologic rescue and gene replacement remain experimental. | Registry experience, retrospective hydroxychloroquine analyses and contemporary reviews. (yang2024quantifyingabca3deficiency pages 8-13, yang2024quantifyingabca3deficiency pages 18-24, li2023abca3relatedinterstitiallung pages 4-5) | Low–moderate for drug benefit; randomized trials and validated response biomarkers are lacking. |
Table: This table summarizes the molecular identity, transport mechanism, physiological role and clinical significance of human ABCA3/Q99758. Confidence statements distinguish established findings from unresolved substrate, processing and treatment questions.
The literature consistently names the protein ATP-binding cassette subfamily A member 3, abbreviated ABCA3, and places it in Homo sapiens. Structural work defines it as a 1,704-residue type V, full-length ABC transporter. Each of its two homologous halves contains six transmembrane helices, one nucleotide-binding domain, one exocytosolic domain and one regulatory domain. This architecture matches the supplied ABCA-family, ABC-transporter-like ATP-binding, AAA+ ATPase and ABC2 transmembrane-domain annotations (xie2022cryoemstructuresof pages 1-2, xie2022cryoemstructuresof pages 3-5).
The historical designation LBM180 reflects its identification as an approximately 180-kDa lamellar-body membrane protein. The supplied UniProt description of a phospholipid-transporting ATPase and approximately 150-kDa mature form is compatible with biochemical observations of full-length and processed ABCA3 species (li2020probethetransport pages 82-85, cheong2006functionalandtrafficking pages 3-4).
ABCA3 has two non-swapped six-helix transmembrane domains, TMD1 and TMD2; two cytosolic nucleotide-binding domains, NBD1 and NBD2; two exocytosolic domains; and two cytosolic regulatory domains. The NBDs contain the canonical Walker motifs and catalytic residues required for ATP binding and hydrolysis. Substituting the catalytic Walker-B glutamates E690 and E1540 markedly reduces ATPase activity, supporting catalysis by both NBDs (flamein2012molecularandcellular pages 3-4, xie2022cryoemstructuresof pages 2-3).
Xie and colleagues reported nucleotide-free and ATP-bound human ABCA3 cryo-EM structures at 3.3 Å resolution in April 2022 (Science Advances, DOI). Nucleotide-free ABCA3 adopts a lateral-opening conformation, exposing positively charged transmembrane cavities to the surrounding bilayer. ATP binding closes the NBDs into a head-to-tail dimer and collapses these cavities. The proposed cycle is therefore:
This is best described as a lateral-access-and-extrusion lipid-export mechanism, rather than transport through a conventional aqueous pore. Two positively charged cavities contained lipid-like densities. Tentative assignments included PC, but some density could represent detergent or copurified lipid; neither cavity has yet been proven to be the complete substrate pathway in a direct lipid-flux assay (xie2022cryoemstructuresof pages 3-5, xie2022cryoemstructuresof pages 2-3).
Mutagenesis nevertheless supports functional importance. K21A and R1212A reduced ATPase activity by approximately 25%, whereas R280A and selected double mutants reduced activity by approximately 75%, implicating positively charged cavity residues—especially Arg280—in maintaining the transport-competent structure or interacting with lipid (xie2022cryoemstructuresof pages 3-5).
PC and PG are the strongest physiological substrate assignments. These are major surfactant phospholipids; ABCA3-dependent delivery into lamellar bodies is supported by fluorescent-lipid uptake, knockdown, lipid-composition, animal and structural studies. The inferred direction is from the cytosolic leaflet of the lamellar-body limiting membrane toward the organelle lumen, where surfactant membranes accumulate (paolini2015structuralfeaturesof pages 1-3, xie2022cryoemstructuresof pages 1-2).
The evidence is convergent but not equivalent to definitive purified-protein transport kinetics. In human fetal alveolar type II cells, ABCA3 knockdown reduced vesicular PC loading and generated abnormal lamellar bodies. Conversely, ABCA3 expression in heterologous cells produced lipid-rich multilamellar vesicles. These experiments establish ABCA3 dependence but cannot completely exclude indirect remodeling of intracellular lipid traffic (cheong2006functionalandtrafficking pages 1-1).
Cell-based experiments also support ABCA3-dependent uptake or vesicular association of cholesterol and sphingomyelin. Phosphatidylethanolamine did not show the corresponding ABCA3-dependent effect in an influential knockdown study. Thus, cholesterol and sphingomyelin are reasonable candidate substrates or cargoes whose intracellular handling depends on ABCA3, but evidence that ABCA3 directly translocates them is weaker than for PC/PG (cheong2006functionalandtrafficking pages 8-9, cheong2006functionalandtrafficking pages 1-1).
Accordingly, the most defensible functional annotation is:
ATP-dependent phospholipid exporter/floppase required for PC- and PG-rich pulmonary-surfactant loading into lamellar bodies.
It is premature to assign a narrow molecular specificity or claim direct transport of every lipid altered by ABCA3 loss.
ABCA3 exists as higher- and lower-molecular-mass forms, historically reported near 180–190 and 150 kDa. Glycosylation experiments indicate that the lower form is generated by processing rather than merely representing a different glycoform. Disease-associated L101P, N568D and G1221S variants show reduced production of the lower species, linking normal maturation to intracellular trafficking (cheong2006functionalandtrafficking pages 3-4).
Structural biochemistry localized cleavage to the first exocytosolic domain near Lys174. Processing produces an approximately 30-kDa glycosylated N-terminal fragment and an approximately 170-kDa C-terminal fragment in the recombinant system; the fragments remain associated. Deletion of residues 164–176 abolishes cleavage, although substitution of L173/K174/E175 alone does not, indicating that the exact scissile bond or sequence requirements remain unresolved. The responsible protease, precise cellular compartment and physiological purpose of cleavage are also unknown (xie2022cryoemstructuresof pages 2-3, xie2022cryoemstructuresof pages 1-2).
Wild-type ABCA3 traffics through the endolysosomal pathway to the lamellar-body limiting membrane. Several pathogenic variants misfold and remain in the endoplasmic reticulum. The traditional mechanistic classification distinguishes type I trafficking/misfolding variants—for example L101P and L982P—from type II catalytic or transport variants, such as E292V, N568D, E690K and T1114M, which can reach lysosome-like organelles but have defective ATP hydrolysis or lipid transport. This division is useful but not absolute; individual alleles may combine defects (anciuccrauciuc2024descriptiveandfunctional pages 8-9, xie2022cryoemstructuresof pages 5-6).
ABCA3 performs its primary validated function in the limiting membrane of lamellar bodies in alveolar type II cells. Lamellar bodies are acidic, lysosome-related organelles in which surfactant lipids and hydrophobic surfactant proteins are assembled into densely packed multilamellar membranes before regulated secretion into the alveolar airspace (cheong2006functionalandtrafficking pages 1-1, xie2022cryoemstructuresof pages 1-2).
The functional pathway is:
surfactant-lipid synthesis and intracellular delivery → ABCA3-dependent lipid translocation into lamellar bodies → lamellar-body biogenesis and surfactant packaging → exocytosis into alveoli → spreading at the air–liquid interface → reduced surface tension and prevention of end-expiratory alveolar collapse.
ABCA3 is therefore not simply one transporter among many: lipid transport and organelle biogenesis are mechanistically linked. Suppression of ABCA3 reduces PC loading and lamellar-body markers, whereas ectopic expression induces multilamellar, lipid-containing vesicles. Mouse loss-of-function studies show absent or severely abnormal lamellar bodies, altered surfactant lipid composition, disrupted mature SP-B processing and neonatal respiratory failure, establishing physiological necessity (paolini2015structuralfeaturesof pages 10-13, cheong2006functionalandtrafficking pages 1-1).
ABCA3 transcripts or protein have been reported in liver, stomach, kidney, pancreas and brain, but precise extra-pulmonary substrates and indispensable physiological functions have not been established to the standard achieved in the lung. Broad disease associations should therefore not be treated as equivalent to validated organ-specific function (paolini2015structuralfeaturesof pages 1-3).
Biallelic pathogenic ABCA3 variants cause autosomal-recessive pulmonary surfactant metabolism dysfunction, encompassing fatal neonatal respiratory distress, pulmonary alveolar proteinosis-like disease and childhood or adult interstitial lung disease. Curated disease-target evidence strongly connects ABCA3 with surfactant metabolism dysfunction, hereditary pulmonary alveolar proteinosis, neonatal respiratory distress and surfactant-related childhood ILD (OpenTargets Search: -ABCA3).
Disease mechanisms include:
In a 2012 cohort of 47 children with severe neonatal respiratory distress and/or ILD, 10 carried ABCA3 variants; five died from respiratory failure during the first year and five developed ILD. Nine of the ten presented with neonatal respiratory distress. HRCT commonly showed ground-glass opacity, while biopsies demonstrated type II-cell hyperplasia, septal thickening and macrophage accumulation (flamein2012molecularandcellular pages 1-2, flamein2012molecularandcellular pages 3-4).
Residual function strongly influences outcome. In the 2023 Kids Lung Register analysis, one-year survival was 67.6% for hypomorphic/hypomorphic, 62.5% for hypomorphic/null, and 15.4% for null/null genotypes. Nevertheless, prediction of individual missense-variant severity remains difficult because functional testing is incomplete and compound heterozygotes can combine distinct defects (li2023abca3relatedinterstitiallung pages 3-4, li2023abca3relatedinterstitiallung pages 1-2).
Li et al., published February 2023 in Thorax (DOI), analyzed 44 patients who survived beyond one year. At last observation, median age was 6.3 years and 36/44 (82%) were alive without transplantation. FVC and FEV1 declined by approximately 1.1 and 1.7 percentage points predicted per year, respectively. Cystic CT lesions became more common with age. Patients who never needed supplemental oxygen had longer median survival than persistently oxygen-dependent patients—9.7 versus 3.0 years, although these values reflect an observational survivor cohort rather than population life expectancy (li2023abca3relatedinterstitiallung pages 4-4, li2023abca3relatedinterstitiallung pages 1-1).
Important limitations were registry referral and survivor selection, sparse serial pulmonary-function and CT data, uncertain pathogenicity or residual-function assignments for some variants, and heterogeneous treatment. Treatment effects could not be estimated reliably (li2023abca3relatedinterstitiallung pages 4-5, li2023abca3relatedinterstitiallung pages 6-6).
Sun et al., published January 2024 in The Journal of Clinical Investigation (DOI), generated patient-specific induced pluripotent stem cells, footprint-free CRISPR-corrected isogenic controls and engineered ABCA3 reporter lines, then differentiated them into alveolar type II cells. W308R and E690K models reproduced decreased surfactant secretion, variant-specific trafficking defects and abnormal lamellar bodies (sun2024humanpluripotentstem pages 1-2, sun2024humanpluripotentstem pages 13-14).
The important conceptual advance was that ABCA3 deficiency was not only a surfactant-packaging defect. Mutant cells had reduced progenitor capacity, increased NF-κB activity and greater pro-inflammatory cytokine production. This supports a model in which chronic epithelial-intrinsic inflammation and deficient alveolar regeneration contribute to progressive ILD and fibrosis. The matched human platform is also a practical system for variant classification and drug screening, although its ability to predict clinical response remains unproven (sun2024humanpluripotentstem pages 1-2).
A 2024 analysis reported 588 ClinVar ABCA3 variants: 52 pathogenic/likely pathogenic, 170 benign/likely benign and 366 variants of uncertain significance. Although database counts change over time, the distribution illustrates why functional assays and structure-guided interpretation are clinically important (yang2024quantifyingabca3deficiency pages 8-13).
Clinical implementation centers on sequencing ABCA3 in neonates with unexplained severe respiratory failure and in children or adults with surfactant-pattern ILD. Because disease is usually recessive and many patients are compound heterozygotes, complete analysis of both alleles—including deletion/duplication and splice assessment where appropriate—is more informative than testing only recurrent variants. Sequencing is increasingly replacing invasive lung biopsy, although HRCT, pulmonary-function testing and histology remain useful for defining severity and progression (anciuccrauciuc2024descriptiveandfunctional pages 8-9, li2023abca3relatedinterstitiallung pages 4-4).
Functional assays assess protein abundance, ER retention, lysosomal/lamellar-body trafficking, proteolytic maturation, ATPase function, vesicle size and lipid loading. Cryo-EM-based mapping improves mechanistic interpretation: 97 of 101 disease-associated missense positions considered in the 2022 study could be mapped onto the structures. These approaches are especially valuable for variants of uncertain significance, but are not yet uniformly standardized clinical tests (xie2022cryoemstructuresof pages 5-6).
Current care is mainly supportive: oxygen, nutritional and respiratory support, infection prevention and longitudinal pulmonary monitoring. Systemic glucocorticoids, macrolides and hydroxychloroquine are used empirically in some centers, but observational data are confounded and controlled efficacy has not been established. A retrospective/cell-model hydroxychloroquine analysis of 39 patients and 16 variants suggested variant-specific effects, but in-vitro/in-vivo correlation was only moderate and prospective randomized trials are needed (yang2024quantifyingabca3deficiency pages 18-24, li2023abca3relatedinterstitiallung pages 4-5).
For severe progressive disease, lung transplantation remains the only established definitive intervention. Small-molecule rescue of misfolded variants, potentiation of residual transport, RNA therapy and gene replacement are research strategies rather than standard treatments. The full-length ABCA3 coding sequence and the need for efficient, durable alveolar type II-cell delivery remain major translational challenges (yang2024quantifyingabca3deficiency pages 8-13).
High-confidence conclusions are that ABCA3 is the correct human Q99758 target, is a two-repeat ABCA transporter, localizes to alveolar type II-cell lamellar bodies, hydrolyzes ATP, and is required for lamellar-body and pulmonary-surfactant biogenesis. Human genetics, cell biology, animal knockout studies and cryo-EM converge on these conclusions.
Moderate-confidence conclusions concern exact transport direction and substrate specificity. PC and PG are strongly supported physiological cargoes, and the structural model favors transport from the cytosolic leaflet toward the lamellar-body lumen, but a purified, reconstituted system has not yet provided a complete kinetic substrate profile.
Major open questions include the exact lipid-binding chemistry of the two TMD cavities; whether cholesterol and sphingomyelin are direct substrates; the protease, compartment and function of cleavage near Lys174; the roles of the regulatory and exocytosolic domains; validated extra-pulmonary functions; and reliable predictors of drug response. The field also needs prospective natural-history cohorts, standardized functional classification of variants, controlled treatment trials and efficient AT2-directed gene-delivery systems.
The most precise current annotation is that human ABCA3/Q99758 is an ATP-dependent lamellar-body phospholipid transporter whose principal physiological cargoes are PC and PG and whose essential role is pulmonary-surfactant lipid loading and lamellar-body biogenesis. Its action occurs at the lamellar-body limiting membrane in alveolar type II cells. Loss of trafficking or catalytic function produces a continuum from lethal neonatal surfactant failure to progressive interstitial lung disease. Structural biology, 2023 longitudinal data and 2024 human iAEC2 models have advanced mechanism and variant interpretation, but substrate-resolved transport biochemistry and disease-modifying therapies remain important unmet needs.
References
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(li2023abca3relatedinterstitiallung pages 4-4): Yang Li, Elias Seidl, Katrin Knoflach, Florian Gothe, Maria Elisabeth Forstner, Katarzyna Michel, Ingo Pawlita, Florian Gesenhues, Franziska Sattler, Xiaohua Yang, Carolin Kroener, Simone Reu-Hofer, Julia Ley-Zaporozhan, Birgit Kammer, Ingrid Krüger-Stollfuß, Julien Dinkel, Julia Carlens, Martin Wetzke, Antonio Moreno-Galdó, Alba Torrent-Vernetta, Joanna Lange, Katarzyna Krenke, Nisreen Rumman, Sarah Mayell, Tugba Sismanlar, Ayse Aslan, Nicolas Regamey, Marijke Proesmans, Florian Stehling, Lutz Naehrlich, Kilinc Ayse, Sebastian Becker, Cordula Koerner-Rettberg, Erika Plattner, Effrosyni D Manali, Spyridon A Papiris, Ilaria Campo, Matthias Kappler, Nicolaus Schwerk, and Matthias Griese. Abca3-related interstitial lung disease beyond infancy. Thorax, 78:587-595, Feb 2023. URL: https://doi.org/10.1136/thorax-2022-219434, doi:10.1136/thorax-2022-219434. This article has 61 citations and is from a domain leading peer-reviewed journal.
(li2023abca3relatedinterstitiallung pages 1-1): Yang Li, Elias Seidl, Katrin Knoflach, Florian Gothe, Maria Elisabeth Forstner, Katarzyna Michel, Ingo Pawlita, Florian Gesenhues, Franziska Sattler, Xiaohua Yang, Carolin Kroener, Simone Reu-Hofer, Julia Ley-Zaporozhan, Birgit Kammer, Ingrid Krüger-Stollfuß, Julien Dinkel, Julia Carlens, Martin Wetzke, Antonio Moreno-Galdó, Alba Torrent-Vernetta, Joanna Lange, Katarzyna Krenke, Nisreen Rumman, Sarah Mayell, Tugba Sismanlar, Ayse Aslan, Nicolas Regamey, Marijke Proesmans, Florian Stehling, Lutz Naehrlich, Kilinc Ayse, Sebastian Becker, Cordula Koerner-Rettberg, Erika Plattner, Effrosyni D Manali, Spyridon A Papiris, Ilaria Campo, Matthias Kappler, Nicolaus Schwerk, and Matthias Griese. Abca3-related interstitial lung disease beyond infancy. Thorax, 78:587-595, Feb 2023. URL: https://doi.org/10.1136/thorax-2022-219434, doi:10.1136/thorax-2022-219434. This article has 61 citations and is from a domain leading peer-reviewed journal.
(li2023abca3relatedinterstitiallung pages 3-4): Yang Li, Elias Seidl, Katrin Knoflach, Florian Gothe, Maria Elisabeth Forstner, Katarzyna Michel, Ingo Pawlita, Florian Gesenhues, Franziska Sattler, Xiaohua Yang, Carolin Kroener, Simone Reu-Hofer, Julia Ley-Zaporozhan, Birgit Kammer, Ingrid Krüger-Stollfuß, Julien Dinkel, Julia Carlens, Martin Wetzke, Antonio Moreno-Galdó, Alba Torrent-Vernetta, Joanna Lange, Katarzyna Krenke, Nisreen Rumman, Sarah Mayell, Tugba Sismanlar, Ayse Aslan, Nicolas Regamey, Marijke Proesmans, Florian Stehling, Lutz Naehrlich, Kilinc Ayse, Sebastian Becker, Cordula Koerner-Rettberg, Erika Plattner, Effrosyni D Manali, Spyridon A Papiris, Ilaria Campo, Matthias Kappler, Nicolaus Schwerk, and Matthias Griese. Abca3-related interstitial lung disease beyond infancy. Thorax, 78:587-595, Feb 2023. URL: https://doi.org/10.1136/thorax-2022-219434, doi:10.1136/thorax-2022-219434. This article has 61 citations and is from a domain leading peer-reviewed journal.
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(li2023abca3relatedinterstitiallung pages 1-2): Yang Li, Elias Seidl, Katrin Knoflach, Florian Gothe, Maria Elisabeth Forstner, Katarzyna Michel, Ingo Pawlita, Florian Gesenhues, Franziska Sattler, Xiaohua Yang, Carolin Kroener, Simone Reu-Hofer, Julia Ley-Zaporozhan, Birgit Kammer, Ingrid Krüger-Stollfuß, Julien Dinkel, Julia Carlens, Martin Wetzke, Antonio Moreno-Galdó, Alba Torrent-Vernetta, Joanna Lange, Katarzyna Krenke, Nisreen Rumman, Sarah Mayell, Tugba Sismanlar, Ayse Aslan, Nicolas Regamey, Marijke Proesmans, Florian Stehling, Lutz Naehrlich, Kilinc Ayse, Sebastian Becker, Cordula Koerner-Rettberg, Erika Plattner, Effrosyni D Manali, Spyridon A Papiris, Ilaria Campo, Matthias Kappler, Nicolaus Schwerk, and Matthias Griese. Abca3-related interstitial lung disease beyond infancy. Thorax, 78:587-595, Feb 2023. URL: https://doi.org/10.1136/thorax-2022-219434, doi:10.1136/thorax-2022-219434. This article has 61 citations and is from a domain leading peer-reviewed journal.
(li2023abca3relatedinterstitiallung pages 6-6): Yang Li, Elias Seidl, Katrin Knoflach, Florian Gothe, Maria Elisabeth Forstner, Katarzyna Michel, Ingo Pawlita, Florian Gesenhues, Franziska Sattler, Xiaohua Yang, Carolin Kroener, Simone Reu-Hofer, Julia Ley-Zaporozhan, Birgit Kammer, Ingrid Krüger-Stollfuß, Julien Dinkel, Julia Carlens, Martin Wetzke, Antonio Moreno-Galdó, Alba Torrent-Vernetta, Joanna Lange, Katarzyna Krenke, Nisreen Rumman, Sarah Mayell, Tugba Sismanlar, Ayse Aslan, Nicolas Regamey, Marijke Proesmans, Florian Stehling, Lutz Naehrlich, Kilinc Ayse, Sebastian Becker, Cordula Koerner-Rettberg, Erika Plattner, Effrosyni D Manali, Spyridon A Papiris, Ilaria Campo, Matthias Kappler, Nicolaus Schwerk, and Matthias Griese. Abca3-related interstitial lung disease beyond infancy. Thorax, 78:587-595, Feb 2023. URL: https://doi.org/10.1136/thorax-2022-219434, doi:10.1136/thorax-2022-219434. This article has 61 citations and is from a domain leading peer-reviewed journal.