ArticleProceedings of the National Academy of Sciences of the United States of America2007
Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 59 citations in OpenAlex.
- Cilia-to-basement membrane signaling is a biomechanical driver in models of autosomal dominant polycystic kidney disease.The Journal of clinical investigation · 2026Article
- Xylt2 Knockout Eliminates O-Xylosylation and Enhances Bone Morphogenetic Protein 2 Production in Chinese Hamster Ovary Cells.Biotechnology journal · 2026Article
- mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis.International journal of molecular sciences · 2025Article
- Genetic variability in proteoglycan biosynthetic genes reveals new facets of heparan sulfate diversity.Essays in biochemistry · 2024Review
- An Overview ofFrontiers in cell and developmental biology · 2021Review
- Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis.Frontiers in genetics · 2021Review
- Xylosyltransferase 2 deficiency and organ homeostasis.Glycoconjugate journal · 2020Article
- Adipose tissue loss and lipodystrophy in xylosyltransferase II deficient mice.International journal of obesity (2005) · 2019Article
- Structural Basis for the Initiation of Glycosaminoglycan Biosynthesis by Human Xylosyltransferase 1.Structure (London, England : 1993) · 2018Article
- Six2creFrs2α knockout mice are a novel model of renal cystogenesis.Scientific reports · 2016Article
- Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.American journal of human genetics · 2015Article
- Xylosyltransferase II is the predominant isoenzyme which is responsible for the steady-state level of xylosyltransferase activity in human serum.Biochemical and biophysical research communications · 2015Article
- Inactivation of integrin-β1 prevents the development of polycystic kidney disease after the loss of polycystin-1.Journal of the American Society of Nephrology : JASN · 2015Article
- Human genetic disorders and knockout mice deficient in glycosaminoglycan.BioMed research international · 2014Review
- Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length.Developmental biology · 2014Article
- The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.Human genetics · 2014Article
- First identification and functional analysis of the human xylosyltransferase II promoter.Glycoconjugate journal · 2013Article
- The extracellular matrix and ciliary signaling.Current opinion in cell biology · 2012Review
- Control of mucin-type O-glycosylation: a classification of the polypeptide GalNAc-transferase gene family.Glycobiology · 2012Review
- Development of the bile ducts: essentials for the clinical hepatologist.Journal of hepatology · 2012Review
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
Abstract
The basic biochemical mechanisms underlying many heritable human polycystic diseases are unknown despite evidence that most cases are caused by mutations in members of several protein families, the most prominent being the polycystin gene family, whose products are found on the primary cilia, or due to mutations in posttranslational processing and transport. Inherited polycystic kidney disease, the most prevalent polycystic disease, currently affects approximately 500,000 people in the United States. Decreases in proteoglycans (PGs) have been found in tissues and cultured cells from patients who suffer from autosomal dominant polycystic kidney disease, and this PG decrease has been hypothesized to be responsible for cystogenesis. This is possible because alterations in PG concentrations would be predicted to disrupt many homeostatic mechanisms of growth, development, and metabolism. To test this hypothesis, we have generated mice lacking xylosyltransferase 2 (XylT2), an enzyme involved in PG biosynthesis. Here we show that inactivation of XylT2 results in a substantial reduction in PGs and a phenotype characteristic of many aspects of polycystic liver and kidney disease, including biliary epithelial cysts, renal tubule dilation, organ fibrosis, and basement membrane abnormalities. Our findings demonstrate that alterations in PG concentrations can occur due to loss of XylT2, and that reduced PGs can induce cyst development.
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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.