ArticleThe Journal of biological chemistry2009
Naturally occurring mutations alter the stability of polycystin-1 polycystic kidney disease (PKD) domains.
Article in The Journal of biological chemistry, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 24 citations in OpenAlex.
- Discovery of a multifunctional chitinase-cellulase from Thermococcus chitonophagus with expanded polysaccharide specificity.Biotechnology for biofuels and bioproducts · 2026Article
- Polycystin-1 and Cardiac Remodeling: From Mechanotransduction to Clinical Consequences.Circulation research · 2026Review
- Advances in high-resolution imaging of centrioles and cilia.Journal of cell science · 2025Review
- The GPCR properties of polycystin-1- A new paradigm.Frontiers in molecular biosciences · 2022Review
- Protein nanomechanics in biological context.Biophysical reviews · 2021Review
- Nucleolin mediates the binding of cancer cells to L-selectin under conditions of lymphodynamic shear stress.American journal of physiology. Cell physiology · 2020Article
- Crystal Structure of a Two-domain Fragment of Hepatocyte Growth Factor Activator Inhibitor-1: FUNCTIONAL INTERACTIONS BETWEEN THE KUNITZ-TYPE INHIBITOR DOMAIN-1 AND THE NEIGHBORING POLYCYSTIC KIDNEY DISEASE-LIKE DOMAIN.The Journal of biological chemistry · 2016Article
- Genetic Analysis Reveals a Hierarchy of Interactions between Polycystin-Encoding Genes and Genes Controlling Cilia Function during Left-Right Determination.PLoS genetics · 2016Article
- Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease.Iranian biomedical journal · 2014Article
- Analysis of the REJ Module of Polycystin-1 Using Molecular Modeling and Force-Spectroscopy Techniques.Journal of biophysics (Hindawi Publishing Corporation : Online) · 2013Article
- Mouse models of ciliopathies: the state of the art.Disease models & mechanisms · 2012Review
- Polycystins, focal adhesions and extracellular matrix interactions.Biochimica et biophysica acta · 2011Review
- Pkd1l1 establishes left-right asymmetry and physically interacts with Pkd2.Development (Cambridge, England) · 2011Article
- Effect of PKD1 gene missense mutations on polycystin-1 membrane topogenesis.Biochemistry · 2011Article
- A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers.PloS one · 2011Article
- Naturally occurring osmolytes modulate the nanomechanical properties of polycystic kidney disease domains.The Journal of biological chemistry · 2010Article
- Molecular diagnostics for autosomal dominant polycystic kidney disease.Nature reviews. Nephrology · 2010Review
- Understanding biology by stretching proteins: recent progress.Current opinion in structural biology · 2010Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
Mutations in polycystin-1 (PC1) can cause autosomal dominant polycystic kidney disease, which is a leading cause of renal failure. The available evidence suggests that PC1 acts as a mechanosensor, receiving signals from the primary cilia, neighboring cells, and extracellular matrix. PC1 is a large membrane protein that has a long N-terminal extracellular region (about 3000 amino acids) with a multimodular structure including 16 Ig-like polycystic kidney disease (PKD) domains, which are targeted by many naturally occurring missense mutations. Nothing is known about the effects of these mutations on the biophysical properties of PKD domains. Here we investigate the effects of several naturally occurring mutations on the mechanical stability of the first PKD domain of human PC1 (HuPKDd1). We found that several missense mutations alter the mechanical unfolding pathways of HuPKDd1, resulting in distinct mechanical phenotypes. Moreover, we found that these mutations also alter the thermodynamic stability of a structurally homologous archaeal PKD domain. Based on these findings, we hypothesize that missense mutations may cause autosomal dominant polycystic kidney disease by altering the stability of the PC1 ectodomain, thereby perturbing its ability to sense mechanical signals.
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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.