ArticleTraffic (Copenhagen, Denmark)2016
Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy.
Article in Traffic (Copenhagen, Denmark), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
32 citing papers in PubMed, 58 citations in OpenAlex.
- Caveolae mechanics in cellular functions and disease.Nature reviews. Molecular cell biology · 2026Review
- Membrane remodeling by the collective action of caveolin-1.Nature communications · 2026Article
- Membrane Remodeling by the Collective Action of Caveolin-1.bioRxiv : the preprint server for biology · 2025Article
- Evolutionarily diverse caveolins share a common structural framework built around amphipathic disks.The Journal of cell biology · 2025Article
- RNF213 Acts as a Molecular Switch for Cav-1 Ubiquitination and Phosphorylation in Human Cells.Cells · 2025Article
- Comprehensive proteomic characterization of pulmonary arterial hypertension in Chinese people.Frontiers in molecular biosciences · 2025Article
- Siblings With Berardinelli-Seip Congenital Lipodystrophy: Clinical Insights and Challenges.Cureus · 2024Article
- Plasma membrane remodeling determines adipocyte expansion and mechanical adaptability.Nature communications · 2024Article
- Lipid organization by the Caveolin-1 complex.Biophysical journal · 2024Article
- Lipid Organization by the Caveolin-1 Complex.bioRxiv : the preprint server for biology · 2024Article
- Early proteostasis of caveolins synchronizes trafficking, degradation, and oligomerization to prevent toxic aggregation.The Journal of cell biology · 2023Article
- Hereditary severe insulin resistance syndrome: Pathogenesis, pathophysiology, and clinical management.Genes & diseases · 2023Review
- The Role of Membrane Lipids in the Formation and Function of Caveolae.Cold Spring Harbor perspectives in biology · 2023Review
- Template-free prediction of a new monotopic membrane protein fold and assembly by AlphaFold2.Biophysical journal · 2023Article
- The building blocks of caveolae revealed: caveolins finally take center stage.Biochemical Society transactions · 2023Article
- Caveolae Mechanotransduction at the Interface between Cytoskeleton and Extracellular Matrix.Cells · 2023Review
- Molecular architecture of the human caveolin-1 complex.Science advances · 2022Article
- Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.Genome medicine · 2021Article
- NovelFrontiers in medicine · 2021Article
- Structure and assembly of CAV1 8S complexes revealed by single particle electron microscopy.Science advances · 2020Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Congenital generalized lipodystrophy (CGL) and pulmonary arterial hypertension (PAH) have recently been associated with mutations in the caveolin-1 ( CAV1 ) gene, which encodes the primary structural protein of caveolae. However, little is currently known about how these CAV1 mutations impact caveolae formation or contribute to the development of disease. Here, we identify a heterozygous F160X CAV1 mutation predicted to generate a C-terminally truncated mutant protein in a patient with both PAH and CGL using whole exome sequencing, and characterize the properties of CAV1 , caveolae-associated proteins and caveolae in skin fibroblasts isolated from the patient. We show that morphologically defined caveolae are present in patient fibroblasts and that they function in mechanoprotection. However, they exhibited several notable defects, including enhanced accessibility of the C-terminus of wild-type CAV1 in caveolae, reduced colocalization of cavin-1 with CAV1 and decreased stability of both 8S and 70S oligomeric CAV1 complexes that are necessary for caveolae formation. These results were verified independently in reconstituted CAV1
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Registered trials
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.