ArticleMolecular biology of the cell2017
A disease-associated frameshift mutation in caveolin-1 disrupts caveolae formation and function through introduction of a de novo ER retention signal.
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Article in Molecular biology of the cell, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21citing papers in PubMed
1.5field-weighted citation impact, top 19% of its field
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Who cites it
21 citing papers in PubMed, 38 citations in OpenAlex.
- 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
- A Gallbladder-Specific Hydrophobic Bile Acid-FXR-MUC1 Signaling Axis Mediates Cholesterol Gallstone Formation.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Early proteostasis of caveolins synchronizes trafficking, degradation, and oligomerization to prevent toxic aggregation.The Journal of cell biology · 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
- Genes in pediatric pulmonary arterial hypertension and the most promisingFrontiers in genetics · 2022Review
- Critical Role of Caveolin-1 Loss/Dysfunction in Pulmonary Hypertension.Medical sciences (Basel, Switzerland) · 2021Review
- 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
- Type I interferon activation and endothelial dysfunction in caveolin-1 insufficiency-associated pulmonary arterial hypertension.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Therapeutic Approaches for Treating Pulmonary Arterial Hypertension by Correcting Imbalanced TGF-β Superfamily Signaling.Frontiers in medicine · 2021Review
- Caveolin1 Tyrosine-14 Phosphorylation: Role in Cellular Responsiveness to Mechanical Cues.The Journal of membrane biology · 2020Review
- Structure and assembly of CAV1 8S complexes revealed by single particle electron microscopy.Science advances · 2020Article
- 'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension.Genes · 2020Review
- The role of genomics and genetics in pulmonary arterial hypertension.Global cardiology science & practice · 2020Review
- Molecular genetic framework underlying pulmonary arterial hypertension.Nature reviews. Cardiology · 2020Review
- Expression of a Human Caveolin-1 Mutation in Mice Drives Inflammatory and Metabolic Defect-Associated Pulmonary Arterial Hypertension.Frontiers in medicine · 2020Article
- Endosomes and Autophagy: Regulators of Pulmonary Endothelial Cell Homeostasis in Health and Disease.Antioxidants & redox signaling · 2019Review
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Courtney A CopelandDepartment of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, TN 37232.
Bing HanDepartment of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, TN 37232.
Ajit TiwariDepartment of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, TN 37232.
Eric D AustinDepartment of Pediatrics, Vanderbilt University, Nashville, TN 37232.
James E LoydDepartment of Medicine, Vanderbilt University, Nashville, TN 37232.
James D WestDepartment of Medicine, Vanderbilt University, Nashville, TN 37232.
Anne K KenworthyDepartment of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, TN 37232 Anne.kenworthy@vanderbilt.edu.
Vanderbilt University · US
Funding
Tumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI STACIE B DUSETZINA · 1995 to 2026
$172.8MTranslational Analysis CoreP30DK058404 · NIDDK · VANDERBILT UNIVERSITY MEDICAL CENTER · PI RICHARD M. PEEK · 2002 to 2026
$29.9MVanderbilt Diabetes Research CenterP30DK020593 · NIDDK · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ALVIN C POWERS · 2012 to 2026
$29.3MTRANSGENIC MOUSE/ ES CELL SHARES RESOURCESP60DK020593 · NIDDK · VANDERBILT UNIVERSITY · PI POWERS, ALVIN C · 1986 to 2011
$28.1MShop Module CoreP30EY008126 · NEI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI David J. Calkins · 1989 to 2026
$19.6MTHREE-TIERED PREVENTION MODEL TO BETTER SERVE ALL STUDENP30HD015052 · NICHD · VANDERBILT UNIVERSITY · PI HARRELL, FRANK E. · 1985 to 2014
$18.6MVanderbilt Mouse Metabolic Physiology CenterU24DK059637 · NIDDK · VANDERBILT UNIVERSITY · PI WASSERMAN, DAVID H · 2001 to 2015
$14.9MVanderbilt/Meharry Initiative for Minority Student DvptR25GM062459 · NIGMS · VANDERBILT UNIVERSITY · PI VELEZ EDWARDS, DIGNA R · 2002 to 2020
$10.4MInterventions Against the Molecular Etiology of BMPR2-induced PAHR01HL095797 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI WEST, JAMES D · 2010 to 2022
$6.7MVanderbilt Mouse Metabolic Phenotyping CenterU2CDK059637 · NIDDK · VANDERBILT UNIVERSITY · PI WASSERMAN, DAVID H · 2016 to 2021
$6.3MCaveolar Defects Underlie the Genetic Origins of PAHR01HL111259 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI KENWORTHY, ANNE K, LOYD, JAMES E · 2012 to 2016
$3.5MNCI NIH HHS P30 CA068485NEI NIH HHS P30 EY008126NHLBI NIH HHS R01 HL095797NHLBI NIH HHS R01 HL111259NICHD NIH HHS P30 HD015052NIDDK NIH HHS P30 DK020593NIDDK NIH HHS P30 DK058404NIDDK NIH HHS P60 DK020593NIDDK NIH HHS U24 DK059637NIDDK NIH HHS U2C DK059637NIGMS NIH HHS R25 GM062459
Abstract
Caveolin-1 (CAV1) is an essential component of caveolae and is implicated in numerous physiological processes. Recent studies have identified heterozygous mutations in the
Indexed as
CaveolaeCaveolin 1EndocytosisEndoplasmic ReticulumFibroblastsFrameshift MutationHumansHypertension, PulmonaryMutationProtein TransportCAV1 protein, humanCaveolin 1
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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.