ArticleThe Journal of clinical investigation2017
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
Article in The Journal of clinical investigation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- PKD1 upstream open reading frames affect Polycystin-1 expression and polycystic kidney disease phenotypes.The Journal of clinical investigation · 2026Article
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- The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease.Journal of nephrology · 2025Article
- Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish.Orphanet journal of rare diseases · 2025Article
- Article
- SETD2 deficiency accelerates sphingomyelin accumulation and promotes the development of renal cancer.Nature communications · 2023Article
- Clinical findings, underlying pathogenetic processes and treatment of vascular dysfunction in autosomal dominant polycystic kidney disease.Renal failure · 2023Review
- Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.JAMA · 2022Observational
- Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.American journal of human genetics · 2022Article
- Molecular Mechanisms of Isolated Polycystic Liver Diseases.Frontiers in genetics · 2022Review
- Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease.International journal of molecular sciences · 2021Review
- Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.The Journal of allergy and clinical immunology · 2020Article
- Adult Inactivation of the Recessive Polycystic Kidney Disease Gene Causes Polycystic Liver Disease.Kidney360 · 2020Article
- Pathway identification through transcriptome analysis.Cellular signalling · 2020Review
- Large Deletions inKidney international reports · 2020Article
- New Ways of Finding New Genes for Old Diseases.Journal of the American Society of Nephrology : JASN · 2019Article
- Article
- Exome-Based Rare-Variant Analyses in CKD.Journal of the American Society of Nephrology : JASN · 2019Article
- GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease.Frontiers in genetics · 2019Article
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19 authors.
Funding
Abstract
Dominantly inherited isolated polycystic liver disease (PCLD) consists of liver cysts that are radiologically and pathologically identical to those seen in autosomal dominant polycystic kidney disease, but without clinically relevant kidney cysts. The causative genes are known for fewer than 40% of PCLD index cases. Here, we have used whole exome sequencing in a discovery cohort of 102 unrelated patients who were excluded for mutations in the 2 most common PCLD genes, PRKCSH and SEC63, to identify heterozygous loss-of-function mutations in 3 additional genes, ALG8, GANAB, and SEC61B. Similarly to PRKCSH and SEC63, these genes encode proteins that are integral to the protein biogenesis pathway in the endoplasmic reticulum. We inactivated these candidate genes in cell line models to show that loss of function of each results in defective maturation and trafficking of polycystin-1, the central determinant of cyst pathogenesis. Despite acting in a common pathway, each PCLD gene product demonstrated distinct effects on polycystin-1 biogenesis. We also found enrichment on a genome-wide basis of heterozygous mutations in the autosomal recessive polycystic kidney disease gene PKHD1, indicating that adult PKHD1 carriers can present with clinical PCLD. These findings define genetic and biochemical modulators of polycystin-1 function and provide a more complete definition of the spectrum of dominant human polycystic diseases.
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