ArticleDisease models & mechanisms
The ADPKD genes pkd1a/b and pkd2 regulate extracellular matrix formation.
Article in Disease models & mechanisms. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers.
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Who cites it
85 citing papers in PubMed, 148 citations in OpenAlex.
- Autosomal dominant polycystic kidney disease is not a risk factor for scoliosis.International urology and nephrology · 2026Article
- Cardiovascular Complications in ADPKD.Kidney international reports · 2025Review
- Physiologic mechanisms underlying polycystic kidney disease.Physiological reviews · 2025Review
- Spinal scoliosis: insights into developmental mechanisms and animal models.Spine deformity · 2025Review
- Review
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- Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.Military Medical Research · 2024Review
- Vascular Access Outcomes in Patients with Autosomal Dominant Polycystic Kidney Disease.Kidney360 · 2024Article
- Leucine-Rich Repeat in Polycystin-1 Suppresses Cystogenesis in a Zebrafish (International journal of molecular sciences · 2024Article
- The role of cilia during organogenesis in zebrafish.Open biology · 2023Review
- The factory, the antenna and the scaffold: the three-way interplay between the Golgi, cilium and extracellular matrix underlying tissue function.Biology open · 2023Review
- Multiple pkd and piezo gene family members are required for atrioventricular valve formation.Nature communications · 2023Article
- Kidney transcriptome and cystic kidney disease genes in zebrafish.Frontiers in physiology · 2023Article
- Gallbladder cancer concomitant with autosomal dominant polycystic kidney disease: A case report.Clinical case reports · 2022Article
- Zebrafish: an important model for understanding scoliosis.Cellular and molecular life sciences : CMLS · 2022Review
- Effects of Suramin on Polycystic Kidney Disease in a Mouse Model of Polycystin-1 Deficiency.International journal of molecular sciences · 2022Article
- Drosophila melanogaster: a simple genetic model of kidney structure, function and disease.Nature reviews. Nephrology · 2022Review
- A Comprehensive Analysis of Fibrillar Collagens in Lamprey Suggests a Conserved Role in Vertebrate Musculoskeletal Evolution.Frontiers in cell and developmental biology · 2022Article
- Mitral Valve Prolapse Induces Regionalized Myocardial Fibrosis.Journal of the American Heart Association · 2021Article
- Renal plasticity revealed through reversal of polycystic kidney disease in mice.Nature genetics · 2021Article
25 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in polycystin1 (PKD1) account for the majority of autosomal dominant polycystic kidney disease (ADPKD). PKD1 mutations are also associated with vascular aneurysm and abdominal wall hernia, suggesting a role for polycystin1 in extracellular matrix (ECM) integrity. In zebrafish, combined knockdown of the PKD1 paralogs pkd1a and pkd1b resulted in dorsal axis curvature, hydrocephalus, cartilage and craniofacial defects, and pronephric cyst formation at low frequency (10-15%). Dorsal axis curvature was identical to the axis defects observed in pkd2 knockdown embryos. Combined pkd1a/b, pkd2 knockdown demonstrated that these genes interact in axial morphogenesis. Dorsal axis curvature was linked to notochord collagen overexpression and could be reversed by knockdown of col2a1 mRNA or chemical inhibition of collagen crosslinking. pkd1a/b- and pkd2-deficient embryos exhibited ectopic, persistent expression of multiple collagen mRNAs, suggesting a loss of negative feedback signaling that normally limits collagen gene expression. Knockdown of pkd1a/b also dramatically sensitized embryos to low doses of collagen-crosslinking inhibitors, implicating polycystins directly in the modulation of collagen expression or assembly. Embryos treated with wortmannin or LY-29400 also exhibited dysregulation of col2a1 expression, implicating phosphoinositide 3-kinase (PI3K) in the negative feedback signaling pathway controlling matrix gene expression. Our results suggest that pkd1a/b and pkd2 interact to regulate ECM secretion or assembly, and that altered matrix integrity may be a primary defect underlying ADPKD tissue pathologies.
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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.