Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system.

Biochemical Society transactions - 1 Oct 2015

Peca Donatella, Cutrera Renato, Masotti Andrea, Boldrini Renata, Danhaive Olivier

Abstract excerpt

Genetic disorders of the surfactant system are rare diseases with a broad range of clinical manifestations, from fatal respiratory distress syndrome (RDS) in neonates to chronic interstitial lung disease (ILD) in children and adults. ABCA3 [ATP-binding cassette (ABC), subfamily A, member 3] is a lung-specific phospholipid transporter critical for intracellular surfactant synthesis and storage in lamellar bodies...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ATP-Binding Cassette Transporters
Share to Gene Expression Regulation, Developmental

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Infant, Newborn

Share to Mutation

Share to Pulmonary Surfactants

Share to Respiratory Distress Syndrome, Newborn

Source

Identifiers

PMID: 26517903
DOI: 10.1042/BST20150100

Genes

ABCA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system.PMID 26517903Read ↗

ABCA3 gene mutations in newborns with fatal surfactant deficiency.Semantic proximity Read ↗

Genetic disorders of surfactant homeostasis.Semantic proximity Read ↗

Genetic Disorders of Surfactant DysfunctionSemantic proximity Read ↗

Whole exome sequencing identifies a novel variant in ABCA3 in an individual with fatal congenital surfactant protein deficiency.Semantic proximity Read ↗

Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.Semantic proximity Read ↗

Genetic disorders of surfactant homeostasis.Semantic proximity Read ↗

ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.Semantic proximity Read ↗

ABCA3 mutation-induced congenital pulmonary surfactant deficiency: A case report.Semantic proximity Read ↗

[Genetic disorders of surfactant].Semantic proximity Read ↗

ABCA3 c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: a Review of the Literature and Family Case StudySemantic proximity Read ↗

Progressive respiratory failure in a term neonate with ABCA3 surfactant deficiency: Beyond the common causes of respiratory distress.Semantic proximity Read ↗

Towards personalized therapies for genetic disorders of surfactant dysfunction.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.