A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.

doi:10.1073/pnas.2105228119

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

Community

Back to search

Article

A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.

Proceedings of the National Academy of Sciences of the United States of America - 8 Feb 2022

Huang Huiyan, Pan Jiehong, Spielberg David R, Hanchard Neil A, Scott Daryl A, Burrage Lindsay C, Dai Hongzheng, Murdock David, Rosenfeld Jill A, Mohammad Ariz, Huang Tao, Lindsey Anika G, Kim Hyori, Chen Jian, Ramu Avinash, Morrison Stephanie A, Dawson Zachary D, Hu Alex Z, Tycksen Eric, Silverman Gary A, Baldridge Dustin, Wambach Jennifer A, Pak Stephen C, Brody Steven L, Schedl Tim

Abstract excerpt

Pathogenic variants in surfactant proteins SP-B and SP-C cause surfactant deficiency and interstitial lung disease. Surfactant proteins are synthesized as precursors (proSP-B, proSP-C), trafficked, and processed via a vesicular-regulated secretion pathway; however, control of vesicular trafficking events is not fully understood. Through the Undiagnosed Diseases Network, we evaluated a child with interstitial lung...

Read the complete abstract on PubMed

Topics

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

Share to Alveolar Epithelial Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lung

Share to Lung Diseases, Interstitial

Share to Protein Precursors

Share to Pulmonary Surfactant-Associated Protein C

Share to Pulmonary Surfactant-Associated Proteins

Share to Pulmonary Surfactants

Share to rab5 GTP-Binding Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 35121658
DOI: 10.1073/pnas.2105228119
PMCID: PMC8832968

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.PMID 35121658Read ↗

Genetic disorders of surfactant homeostasis.Semantic proximity Read ↗

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic traffickingSemantic proximity Read ↗

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

Genetic Disorders of Surfactant DysfunctionSemantic proximity Read ↗

Macrocephaly and developmental delay caused by missense variants in RAB5C.Semantic proximity Read ↗

Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene.Semantic proximity Read ↗

A novel surfactant protein C mutation resulting in aberrant protein processing and altered subcellular localization causes infantile interstitial lung disease.Semantic proximity Read ↗

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.Semantic proximity Read ↗

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.Semantic proximity Read ↗

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation causing a distinct Mendelian DisorderSemantic proximity Read ↗

Linking childhood interstitial lung disease to IARS-related disorder: clinical and preliminary functional studies in four new cases.Semantic proximity Read ↗

Genetic disorders of surfactant homeostasis.Semantic proximity Read ↗

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