keyword
MENU ▼
Read by QxMD icon Read
search

XYLT2

keyword
https://www.readbyqxmd.com/read/27871115/abnormal-proteoglycan-synthesis-due-to-gene-defects-causes-skeletal-diseases-with-overlapping-phenotypes
#1
F Taylan, O Mäkitie
In recent years, massively parallel sequencing technologies have helped us to identify novel disease genes and solve the mysteries behind rare diseases. Today, we know that some diseases with many overlapping and distinct clinical features, as presented in this review, can be caused by mutations in genes that encode enzymes playing crucial roles at different steps of the exact same pathway. In this review, we exclusively focused on 5 genes - XYLT1, XYLT2, B4GALT7, B3GALT6, and B3GAT3 - that encode enzymes involved in the biosynthesis of the common tetrasaccharide linker region of proteoglycans and review the associated diseases, also referred to as linkeropathies, by summarizing the cases reported in literature...
November 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27320698/corneal-clouding-cataract-and-colobomas-with-a-novel-missense-mutation-in-b4galt7-a-review-of-eye-anomalies-in-the-linkeropathy-syndromes
#2
Teda Arunrut, Marta Sabbadini, Mahim Jain, Keren Machol, Fernando Scaglia, Anne Slavotinek
We present a 5-year-old female with a distinctive phenotype comprising global developmental delays, pre- and post-natal growth restriction, striking joint laxity with soft skin, and scoliosis. She had a triangular facies, a prominent forehead, proptosis, a small nose, and a small jaw. Her ocular findings included corneal clouding, colobomas of the iris and optic nerve, and posterior subcapsular cataracts. Exome sequencing identified homozygosity for c.970T>A, predicting p.(Cys324Ser), in the xylosylprotein 4-beta-galactosyltransferase, polypeptide 7 (B4GALT7) gene...
October 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26987875/spondyloocular-syndrome-novel-mutations-in-xylt2-gene-and-expansion-of-the-phenotypic-spectrum
#3
Fulya Taylan, Alice Costantini, Nicole Coles, Minna Pekkinen, Elise Héon, Zeynep Şıklar, Merih Berberoğlu, Anders Kämpe, Ertuğrul Kıykım, Giedre Grigelioniene, Beyhan Tüysüz, Outi Mäkitie
Spondyloocular syndrome is an autosomal-recessive disorder with spinal compression fractures, osteoporosis, and cataract. Mutations in XYLT2, encoding isoform of xylosyltransferase, were recently identified as the cause of the syndrome. We report on 4 patients, 2 unrelated patients and 2 siblings, with spondyloocular syndrome and novel mutations in XYLT2. Exome sequencing revealed a homozygous nonsense mutation, NM_022167.3(XYLT2): c.2188C>T, resulting in a premature stop codon (p.Arg730*) in a female patient...
August 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/26428175/xylan-degrading-enzymes-from-aspergillus-terreus-physicochemical-features-and-functional-studies-on-hydrolysis-of-cellulose-pulp
#4
Leonora Rios de Souza Moreira, Alice da Cunha Morales Álvares, Francides Gomes da Silva, Sonia Maria de Freitas, Edivaldo Ximenes Ferreira Filho
Two endo-β-1,4-xylanases named XylT1 and XylT2, previously purified from Aspergillus terreus, were structurally investigated by fluorescence quenching and characterized with respect to their binding properties with phenolic compounds. Neutral and charged quenchers had access to both enzymes in neutral and alkaline pHs. The greatest access was noted for the negative quencher, possibly due to positive amino acid residues in the vicinity of tryptophan. These tryptophan environments may partially explain the conformational differences and lower binding constants of phenolic compounds for XylT2 than XylT1Phenolic compounds had lower binding constants for XylT2 than XylT1...
December 10, 2015: Carbohydrate Polymers
https://www.readbyqxmd.com/read/26027496/homozygosity-for-frameshift-mutations-in-xylt2-result-in-a-spondylo-ocular-syndrome-with-bone-fragility-cataracts-and-hearing-defects
#5
Craig F Munns, Somayyeh Fahiminiya, Nabin Poudel, Maria Cristina Munteanu, Jacek Majewski, David O Sillence, Jordan P Metcalf, Andrew Biggin, Francis Glorieux, François Fassier, Frank Rauch, Myron E Hinsdale
Heparan and chondroitin/dermatan sulfated proteoglycans have a wide range of roles in cellular and tissue homeostasis including growth factor function, morphogen gradient formation, and co-receptor activity. Proteoglycan assembly initiates with a xylose monosaccharide covalently attached by either xylosyltransferase I or II. Three individuals from two families were found that exhibited similar phenotypes. The index case subjects were two brothers, individuals 1 and 2, who presented with osteoporosis, cataracts, sensorineural hearing loss, and mild learning defects...
June 4, 2015: American Journal of Human Genetics
https://www.readbyqxmd.com/read/25936869/uv-irradiation-induced-production-of-monoglycosylated-biglycan-through-downregulation-of-xylosyltransferase-1-in-cultured-human-dermal-fibroblasts
#6
Cheng Long Jin, Jang-Hee Oh, Mira Han, Min Kyeong Shin, Cheng Yao, Chi-Hyun Park, Zhe Hu Jin, Jin Ho Chung
BACKGROUND: Biglycan (BGN) is a proteoglycan composed of a 42-kDa core protein and two glycosaminoglycan (GAG) chains, and known to be involved in structural, space-filling functions and many physiological regulations in the skin. OBJECTIVE: To investigate ultraviolet (UV) irradiation-induced changes of BGN protein and its GAG chain synthesis in cultured human dermal fibroblasts. METHODS: UV irradiation-induced or xylosyltransferase (XYLT) 1 siRNA-mediated smaller-sized protein bands detected by Western blot using BGN antibodies were identified as monoglycosylated forms of BGN, using BGN siRNA-mediated knockdown and chondroitinase ABC (ChABC)...
July 2015: Journal of Dermatological Science
https://www.readbyqxmd.com/read/25704086/identification-and-characterization-of-human-xylosyltransferase-ii-promoter-single-nucleotide-variants
#7
Isabel Faust, Kai Oliver Böker, Christina Eirich, Dagmar Akkermann, Joachim Kuhn, Cornelius Knabbe, Doris Hendig
The human isoenzymes xylosyltransferase-I and -II (XT-I, XT-II) catalyze the rate-limiting step in proteoglycan biosynthesis. Therefore, serum XT activity, mainly representing XT-II activity, displays a powerful biomarker to quantify the actual proteoglycan synthesis rate. Serum XT activity is increased up to 44% in disorders which are characterized by an altered proteoglycan metabolism, whereby underlying regulatory mechanisms remain unclear. The aim of this study was to investigate new regulatory pathways by identifying and characterizing naturally occurring XYLT2 promoter sequence variants as well as their potential influence on promoter activity and serum XT activity...
March 20, 2015: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/25024048/blood-cells-transcriptomics-as-source-of-potential-biomarkers-of-articular-health-improvement-effects-of-oral-intake-of-a-rooster-combs-extract-rich-in-hyaluronic-acid
#8
Juana Sánchez, M Luisa Bonet, Jaap Keijer, Evert M van Schothorst, Ingrid Mölller, Carles Chetrit, Daniel Martinez-Puig, Andreu Palou
The aim of the study was to explore peripheral blood gene expression as a source of biomarkers of joint health improvement related to glycosaminoglycan (GAG) intake in humans. Healthy individuals with joint discomfort were enrolled in a randomized, double-blind, placebo-controlled intervention study in humans. Subjects ate control yoghurt or yoghurt supplemented with a recently authorized novel food in Europe containing hyaluronic acid (65 %) from rooster comb (Mobilee™ as commercial name) for 90 days. Effects on functional quality-of-life parameters related to joint health were assessed...
September 2014: Genes & Nutrition
https://www.readbyqxmd.com/read/24338203/effects-of-sesamin-on-the-biosynthesis-of-chondroitin-sulfate-proteoglycans-in-human-articular-chondrocytes-in-primary-culture
#9
Peraphan Pothacharoen, Sumet Najarus, Jongkolnee Settakorn, Shuji Mizumoto, Kazuyuki Sugahara, Prachya Kongtawelert
Osteoarthritis (OA) is a degenerative joint disease that progressively causes a loss of joint functions and the impaired quality of life. The most significant event in OA is a high degree of degradation of articular cartilage accompanied by the loss of chondroitin sulfate-proteoglycans (CS-PGs). Recently, the chondroprotective effects of sesamin, the naturally occurring substance found in sesame seeds, have been proved in a rat model of papain-induced osteoarthritis. We hypothesized that sesamin may be associated with possible promotion of the biosynthesis of CS-PGs in human articular chondrocytes...
April 2014: Glycoconjugate Journal
https://www.readbyqxmd.com/read/23747722/human-xylosyltransferase-i-a-new-marker-for-myofibroblast-differentiation-in-skin-fibrosis
#10
I Faust, C Roch, J Kuhn, C Prante, C Knabbe, D Hendig
Skin fibrosis is a severe type of fibrotic disorder emerging in terms of hypertrophic scars or systemic sclerosis. Key event of fibrogenesis is the transition of fibroblasts to matrix-producing myofibroblasts. In the presence of fibrotic triggers, for instance secretion of profibrotic growth factors like transforming growth factor-β1 (TGF-β1) or mechanical strain, myofibroblasts persist. Current research focuses on discovering innovative myofibroblast biomarkers which are regulated in fibrotic development and accessible for antifibrotic inhibition...
July 5, 2013: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/23542338/a-genomewide-association-study-of-smoking-relapse-in-four-european-population-based-samples
#11
Federica Tozzi, Alexander Teumer, Marcus Munafò, Rajesh Rawal, Gbenga Kazeem, Marcel Gerbaulet, Wendy McArdle, Howard Chilcoat, Angela Döring, Norbert Dahmen, Vincent Mooser, Matthias Nauck, Susan M Ring, Justin P Rubio, Peter Vollenweider, Gérard Waeber, Ulrich John, Henry Völzke, Georg Homuth, Harald J Freyberger, Uwe Völker, George Davey-Smith, Christian Gieger, Martin Preisig, Hans J Grabe
OBJECTIVES: Genomewide association studies (GWAS) have identified clear evidence of genetic markers for nicotine dependence. Other smoking phenotypes have been tested, but the results are less consistent. The tendency to relapse versus the ability to maintain long-term abstinence has received little attention in genetic studies; thus, our aim was to provide a better biological understanding of this phenotype through the identification of genetic loci associated with smoking relapse. METHODS: We carried out a GWAS on data from two European population-based collections, including a total of 835 cases (relapsers) and 990 controls (abstainers)...
August 2013: Psychiatric Genetics
https://www.readbyqxmd.com/read/22886070/first-identification-and-functional-analysis-of-the-human-xylosyltransferase-ii-promoter
#12
Benjamin Müller, Christian Prante, Cornelius Knabbe, Knut Kleesiek, Christian Götting
Recently, we demonstrated that the human xylosyltransferase II (XT-II) has enzymatic activity and is able to catalyze the initial and rate-limiting step in the biosynthesis of glycosaminoglycans (GAGs) like chondroitin and dermatan sulfate, as well as heparan sulfate and heparin. Therefore, this enzyme also very likely assumes a crucial regulatory role in the biosynthesis of proteoglycans (PGs). In this study, we identified and characterized for the first time the XYLT2 gene promoter region and transcription factors involved in its regulation...
April 2013: Glycoconjugate Journal
https://www.readbyqxmd.com/read/21159603/genome-wide-mrna-and-microrna-profiling-of-the-nci-60-cell-line-screen-and-comparison-of-fdump-10-with-fluorouracil-floxuridine-and-topoisomerase-1-poisons
#13
COMPARATIVE STUDY
William H Gmeiner, William C Reinhold, Yves Pommier
A profile of microRNA (miRNA) and mRNA expression patterns across the NCI-60 cell-line screen was analyzed to identify expression signatures that correlate with sensitivity to FdUMP[10], fluorouracil (5FU), floxuridine (FdU), topotecan, and irinotecan. Genome-wide profile analyses revealed FdUMP[10] resembles FdU most closely and shows dissimilarities with 5FU. FdUMP[10] had the largest dynamic range of any of these drugs across the NCI-60 indicative of cancer cell-specific activity. Genes involved in endocytosis, such as clathrin (CLTC), SNF8, annexin A6 (ANXA6), and amyloid protein-binding 2 (APPBP2) uniquely correlated with sensitivity to FdUMP[10], consistent with a protein-mediated cellular uptake of FdUMP[10]...
December 2010: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/19944077/differences-in-gene-expression-of-human-xylosyltransferases-and-determination-of-acceptor-specificities-for-various-proteoglycans
#14
COMPARATIVE STUDY
Christina Roch, Joachim Kuhn, Knut Kleesiek, Christian Götting
The xylosyltransferase (XT) isoforms XT-I and XT-II initiate the posttranslational glycosaminoglycan (GAG) synthesis. Here, we determined the relative expression of both isoforms in 33 human cell lines. The majority of tested cell lines showed dominant XYLT2 gene expression, while only in 23132/87, JAR, NCI-H510A and THP-1 was the XT-I mRNA expression higher. Nearly equal expression levels were detected in six cell lines. Additionally, to shed light on putative differences in acceptor specificities the acceptor properties of potential acceptor sequences were determined...
January 1, 2010: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/19690584/impairment-of-glycosaminoglycan-synthesis-in-mucopolysaccharidosis-type-iiia-cells-by-using-sirna-a-potential-therapeutic-approach-for-sanfilippo-disease
#15
Dariusz Dziedzic, Grzegorz Wegrzyn, Joanna Jakóbkiewicz-Banecka
Mucopolysaccharidoses (MPS) are severe inherited metabolic disorders from the group of lysosomal storage diseases. They are caused by deficiency in the activity of enzymes involved in the degradation of glycosaminoglycans (GAGs) and resultant accumulation of these compounds in the cells of patients. Although enzyme replacement therapy has become available for some MPS types (MPS I, MPS II and MPS VI), this treatment is not efficient when neurological symptoms occur, especially in MPS III (Sanfilippo disease)...
February 2010: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/19389916/xylosyltransferase-ii-is-a-significant-contributor-of-circulating-xylosyltransferase-levels-and-platelets-constitute-an-important-source-of-xylosyltransferase-in-serum
#16
Eduard Condac, George L Dale, Diane Bender-Neal, Beatrix Ferencz, Rheal Towner, Myron E Hinsdale
Circulating glycosyltransferases including xylosyltransferases I (XylT1) and II (XylT2) are potential serum biomarkers for various diseases. Understanding what influences the serum activity of these enzymes as well as the sources of these enzymes is important to interpreting the significance of alterations in enzyme activity during disease. This article demonstrates that in the mouse and human the predominant XylT in serum is XylT2. Furthermore, that total XylT levels in human serum are approximately 200% higher than those in plasma due in part to XylT released by platelets during blood clotting in vitro...
August 2009: Glycobiology
https://www.readbyqxmd.com/read/19197251/xylosyltransferase-gene-variants-and-their-role-in-essential-hypertension
#17
Claudia Pönighaus, Helen J L Speirs, Brian J Morris, Joachim Kuhn, Knut Kleesiek, Christian Götting
BACKGROUND: An accumulation of extracellular matrix molecules, such as proteoglycans, is observed in the vascular wall of hypertensive patients. Xylosyltransferases I and II (XT-I and XT-II), the chain-initiating enzymes in the biosynthesis of proteoglycans, catalyze the transfer of D-xylose from UDP-D-xylose to specific serine residues of the core protein. Because associations between XYLT polymorphisms and an altered blood pressure have been observed, genetic variations in the XYLT genes might predispose to essential hypertension...
April 2009: American Journal of Hypertension
https://www.readbyqxmd.com/read/19014925/the-xylosyltransferase-iota-gene-polymorphism-c-343g-t-p-a115s-is-associated-with-decreased-serum-glycosaminoglycan-levels
#18
Michael Ambrosius, Knut Kleesiek, Christian Götting
OBJECTIVES: The xylosyltransferases I and II (XT-I, XT-II, EC 2.4.2.26) are the chain-initiating enzymes in the biosynthesis of glycosaminoglycans (GAGs). This is the first investigation of changes in the serum GAG amount and composition in association with polymorphisms in XYLT1 and XYLT2. DESIGN AND METHODS: Genotyping of three genetic variations in the genes XYLT1 and XYLT2 was performed in 223 healthy blood donor samples. Serum samples were analyzed for their GAG Delta-disaccharide content by reversed-phase high-performance liquid chromatography (RP-HPLC)...
January 2009: Clinical Biochemistry
https://www.readbyqxmd.com/read/18789912/identification-of-a-xylosyltransferase-ii-gene-haplotype-marker-for-diabetic-nephropathy-in-type-1-diabetes
#19
Doris Hendig, Lise Tarnow, Joachim Kuhn, Knut Kleesiek, Christian Götting
BACKGROUND: Proteoglycans are major components of the glomerular basement membrane, being responsible for their permeability properties. Type 1 diabetic patients have an altered proteoglycan metabolism, which contributes to microvascular complications like diabetic nephropathy. Xylosyltransferase II (XT-II) is a chain-initiating enzyme in the biosynthesis of basement membrane proteoglycans and catalyzes the transfer of xylose to selected serine residues in the core protein. Thus, genetic variations in the XT-II coding gene XYLT2 might be implicated in the initiation and progression of late diabetic complications...
December 2008: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/17517600/polycystic-disease-caused-by-deficiency-in-xylosyltransferase-2-an-initiating-enzyme-of-glycosaminoglycan-biosynthesis
#20
Eduard Condac, Robert Silasi-Mansat, Stanley Kosanke, Trenton Schoeb, Rheal Towner, Florea Lupu, Richard D Cummings, Myron E Hinsdale
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...
May 29, 2007: Proceedings of the National Academy of Sciences of the United States of America
keyword
keyword
110199
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"