| Development of a xylosyltransferase-I-selective UPLC MS/MS activity assay using a specific acceptor peptide. | Development of a xylosyltransferase-I-selective UPLC MS/MS activity assay using a specific acceptor peptide.
Fischer B, Kuhn J, Ly TD, Schmidt V, Kleine A, Hendig D, Knabbe C, Faust I. | 07/17/2021 |
| Expression of xylosyltransferases I and II and their role in the pathogenesis of arthrofibrosis. | Expression of xylosyltransferases I and II and their role in the pathogenesis of arthrofibrosis.
Bernstein A, Reichert SNA, Südkamp NP, Hernandez SL, Nerlich AG, Kühle J, Mayr HO., Free PMC Article | 11/21/2020 |
| HEK293 cells lacking both XT-isoforms are not viable | Xylosyltransferase-deficient human HEK293 cells show a strongly reduced proliferation capacity and viability.
Fischer B, Ly TD, Schmidt V, Hendig D, Kuhn J, Knabbe C, Faust I. | 08/1/2020 |
| We report on two siblings with spondyloocular syndrome who presented with varying clinical severity. A novel XYLT2 missense mutation was detected in a region evolutionary conserved across the species | Intrafamilial variability of XYLT2-related spondyloocular syndrome.
Guleray N, Simsek Kiper PO, Utine GE, Boduroglu K, Alikasifoglu M. | 02/8/2020 |
| Using DNA from affected members of the same 2 families, we performed whole exome sequencing, which revealed 2 novel homozygous missense variants (c.1159C > T, p.Arg387Trp) and (c.2548G > C, p.Asp850His). Our findings extend the body of evidence that SOS is caused by homozygous variants in the XYLT2 gene | Homozygous XYLT2 variants as a cause of spondyloocular syndrome.
Umair M, Eckstein G, Rudolph G, Strom T, Graf E, Hendig D, Hoover J, Alanay J, Meitinger T, Schmidt H, Ahmad W. | 10/5/2019 |
| mutations in the XYLT2 gene result in a variable phenotype dominated by spinal osteoporosis, cataract, and hearing loss. | Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.
Taylan F, Costantini A, Coles N, Pekkinen M, Héon E, Şıklar Z, Berberoğlu M, Kämpe A, Kıykım E, Grigelioniene G, Tüysüz B, Mäkitie O. | 12/23/2017 |
| XYLT2 mutations cause a relatively distinct phenotype, the so-called spondyloocular syndrome. | Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes.
Taylan F, Mäkitie O. | 03/11/2017 |
| Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. | Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME., Free PMC Article | 08/22/2015 |
| Demonstrate that XT-II is the predominant isoenzyme responsible for XT activity in serum. The proof was performed using UDP-xylose as the xylose donor, as well as the compound UDP-4-azido-4-deoxyxylose, which is a selective xylose donor for XT-I. | Xylosyltransferase II is the predominant isoenzyme which is responsible for the steady-state level of xylosyltransferase activity in human serum.
Kuhn J, Götting C, Beahm BJ, Bertozzi CR, Faust I, Kuzaj P, Knabbe C, Hendig D., Free PMC Article | 06/27/2015 |
| Seven XYLT2 promoter single nucleotide variants (SNVs) were identified and genotyped. | Identification and characterization of human xylosyltransferase II promoter single nucleotide variants.
Faust I, Böker KO, Eirich C, Akkermann D, Kuhn J, Knabbe C, Hendig D. | 05/30/2015 |
| The study identified and characterized for the first time the XYLT2 gene promoter region and transcription factors involved in its regulation. | First identification and functional analysis of the human xylosyltransferase II promoter.
Müller B, Prante C, Knabbe C, Kleesiek K, Götting C. | 09/7/2013 |
| serum XylT levels may be an informative biomarker in patients who suffer from diseases affecting platelet and/or liver homeostasis. | Xylosyltransferase II is a significant contributor of circulating xylosyltransferase levels and platelets constitute an important source of xylosyltransferase in serum.
Condac E, Dale GL, Bender-Neal D, Ferencz B, Towner R, Hinsdale ME., Free PMC Article | 01/21/2010 |
| These results point to skeletal growth and tissue remodeling as a cause of the high XT activity in children | High xylosyltransferase activity in children and during mineralization of osteoblast-like SAOS-2 cells.
Prante C, Kuhn J, Kleesiek K, Götting C. | 01/21/2010 |
| The deviation from Hardy-Weinberg equilibrium of two XYLT2 variants might be due to gene-phenotype associations which remain to be explored, as well as the possibility of gene-gene interactions. | Xylosyltransferase gene variants and their role in essential hypertension.
Pönighaus C, Speirs HJ, Morris BJ, Kuhn J, Kleesiek K, Götting C, Pönighaus C, Speirs HJ, Morris BJ, Kuhn J, Kleesiek K, Götting C. | 01/21/2010 |
| A protein sequence alignment and polarity plot of XylT-I and XylT-II revealed several Cardin-Weintraub motifs and charged surface clusters, which might be involved in electrostatic-mediated heparin-binding. | Analysis of xylosyltransferase II binding to the anticoagulant heparin.
Casanova JC, Ambrosius M, Kuhn J, Kleesiek K, Götting C. | 01/21/2010 |
| Our data show that a XYLT2 haplotype is associated with nephropathy in type 1 diabetic patients | Identification of a xylosyltransferase II gene haplotype marker for diabetic nephropathy in type 1 diabetes.
Hendig D, Tarnow L, Kuhn J, Kleesiek K, Götting C, Hendig D, Tarnow L, Kuhn J, Kleesiek K, Götting C. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (5) articlesXylosyltransferase gene variants and their role in essential hypertension.
Pönighaus C, Speirs HJ, Morris BJ, Kuhn J, Kleesiek K, Götting C, Pönighaus C, Speirs HJ, Morris BJ, Kuhn J, Kleesiek K, Götting C. The xylosyltransferase Iota gene polymorphism c.343G>T (p.A115S) is associated with decreased serum glycosaminoglycan levels.
Ambrosius M, Kleesiek K, Götting C. Identification of a xylosyltransferase II gene haplotype marker for diabetic nephropathy in type 1 diabetes.
Hendig D, Tarnow L, Kuhn J, Kleesiek K, Götting C, Hendig D, Tarnow L, Kuhn J, Kleesiek K, Götting C. The xylosyltransferase I gene polymorphism c.343G>T (p.A125S) is a risk factor for diabetic nephropathy in type 1 diabetes.
Schön S, Prante C, Bahr C, Tarnow L, Kuhn J, Kleesiek K, Götting C. Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy.
Schön S, Prante C, Müller S, Schöttler M, Tarnow L, Kuhn J, Kleesiek K, Götting C, Schön S, Prante C, Müller S, Schöttler M, Tarnow L, Kuhn J, Kleesiek K, Götting C. | 03/13/2008 |
| Our data show for the first time that XT-I and XT-II are xylosyltransferases with similar but not identical properties, pointing to their potential role in modulating the cellular proteoglycan pool. | Heterologous expression and biochemical characterization of soluble human xylosyltransferase II.
Casanova JC, Kuhn J, Kleesiek K, Götting C. | 01/21/2010 |
| recombinant expression and cloning of active full-length xylosyltransferase I (XT-I) and characterization of subcellular localization of XT-I and XT-II | Cloning and recombinant expression of active full-length xylosyltransferase I (XT-I) and characterization of subcellular localization of XT-I and XT-II.
Schön S, Prante C, Bahr C, Kuhn J, Kleesiek K, Götting C. | 01/21/2010 |
| demonstrate that a soluble form of human XT-II expressed in the xylosyltransferase-deficient pgsA-745 (S745) Chinese hamster ovary cell line is indeed capable of catalyzing the transfer of xylose to a variety of peptide substrates | XT-II, the second isoform of human peptide-O-xylosyltransferase, displays enzymatic activity.
Voglmeir J, Voglauer R, Wilson IB., Free PMC Article | 01/21/2010 |
| xylotransferase genes might be potential candidate genes predisposing to diabetic nephropathy in type 1 diabetic patients | Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy.
Schön S, Prante C, Müller S, Schöttler M, Tarnow L, Kuhn J, Kleesiek K, Götting C, Schön S, Prante C, Müller S, Schöttler M, Tarnow L, Kuhn J, Kleesiek K, Götting C. | 01/21/2010 |