ArticleNature genetics2011
A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation.
Article in Nature genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 149 papers.
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Who cites it
149 citing papers in PubMed, 258 citations in OpenAlex.
- Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.Journal of human genetics · 2019Trial
- PKD1 upstream open reading frames affect Polycystin-1 expression and polycystic kidney disease phenotypes.The Journal of clinical investigation · 2026Article
- The instructive scar - the dynamic role of extracellular matrix in biliary pathophysiology.Disease models & mechanisms · 2026Review
- Generation of transgenic pigs with targeted insertion of a wildtype copy of human PKD2 gene.Molecular biology reports · 2026Article
- A Ciliary Phosphoinositide Pathway Regulates the Dosage of Polycystins in Primary Cilia.Journal of the American Society of Nephrology : JASN · 2026Article
- Epithelial Dynamics of Cystogenesis in Genetic Models of Autosomal Dominant Polycystic Kidney Disease.Cells · 2026Article
- Dual Monogenic Cystic Disease Case Report: Autosomal Dominant Polycystic Kidney Disease and Autosomal Dominant Polycystic Liver Disease.Clinical case reports · 2026Article
- Extra-ciliary role for polycystins in regulation of Ezrin and renal tubular morphology.bioRxiv : the preprint server for biology · 2025Article
- Article
- Gambogic Acid Inhibits MDCK Cyst Enlargement by Suppressing Inflammation via p38 and NF-κB Pathway Inhibition.ACS omega · 2025Article
- Rules of Engagement for Components of Membrane Protein Biogenesis at the Human Endoplasmic Reticulum.International journal of molecular sciences · 2025Review
- Physiologic mechanisms underlying polycystic kidney disease.Physiological reviews · 2025Review
- Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.Journal of the American Society of Nephrology : JASN · 2025Article
- PRKCSH enhances colorectal cancer radioresistance via IRE1α/XBP1s-mediated DNA repair.Cell death & disease · 2025Article
- The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease.Clinical kidney journal · 2025Article
- Liver manifestations in autosomal dominant polycystic kidney disease (ADPKD) and their impact on quality of life.Clinical kidney journal · 2025Article
- CFAP47 is Implicated in X-Linked Polycystic Kidney Disease.Kidney international reports · 2024Article
- Review
- Mechanistic complement of autosomal dominant polycystic kidney disease: the role of aquaporins.Journal of molecular medicine (Berlin, Germany) · 2024Review
- Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease.Orphanet journal of rare diseases · 2024Review
89 more citing papers are in PubMed but not listed here.
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10 authors at 1 institution in 1 country.
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Abstract
Autosomal dominant polycystic liver disease results from mutations in PRKCSH or SEC63. The respective gene products, glucosidase IIβ and SEC63p, function in protein translocation and quality control pathways in the endoplasmic reticulum. Here we show that glucosidase IIβ and Sec63p are required in mice for adequate expression of a functional complex of the polycystic kidney disease gene products, polycystin-1 and polycystin-2. We find that polycystin-1 is the rate-limiting component of this complex and that there is a dose-response relationship between cystic dilation and levels of functional polycystin-1 following mutation of Prkcsh or Sec63. Reduced expression of polycystin-1 also serves to sensitize the kidney to cyst formation resulting from mutations in Pkhd1, the recessive polycystic kidney disease gene. Finally, we show that proteasome inhibition increases steady-state levels of polycystin-1 in cells lacking glucosidase IIβ and that treatment with a proteasome inhibitor reduces cystic disease in orthologous gene models of human autosomal dominant polycystic liver disease.
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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.