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https://www.readbyqxmd.com/read/28087245/the-severe-clinical-phenotype-for-a-heterozygous-fabry-female-patient-correlates-to-the-methylation-of-non-mutated-allele-associated-with-chromosome-10q26-deletion-syndrome
#1
Mohammad Arif Hossain, Hiroko Yanagisawa, Takashi Miyajima, Chen Wu, Ayumi Takamura, Keiko Akiyama, Rina Itagaki, Kaoru Eto, Takeo Iwamoto, Takayuki Yokoi, Kenji Kurosawa, Hironao Numabe, Yoshikatsu Eto
Heterozygous Fabry females usually have an attenuated form of Fabry disease, causing them to be symptomatic; however, in rare cases, they can present with a severe phenotype. In this study, we report on a 37-year-old woman with acroparesthesia, a dysmorphic face, left ventricular hypertrophy, and intellectual disability. Her father had Fabry disease and died due to chronic renal and congestive cardiac failure. Her paternal uncle had chronic renal failure and intellectual disability, and her paternal aunt was affected with congestive cardiac failure...
January 7, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28075357/correlations-between-endomyocardial-biopsies-and-cardiac-manifestations-in-taiwanese-patients-with-the-chinese-hotspot-ivs4-919g-a-mutation-data-from-the-fabry-outcome-survey
#2
Ting-Rong Hsu, Fu-Pang Chang, Tzu-Hung Chu, Shih-Hsien Sung, Svetlana Bizjajeva, Wen-Chung Yu, Dau-Ming Niu
We retrospectively evaluated correlations between cardiac manifestations and globotriaosylceramide (Gb3) accumulation in cardiomyocytes from Taiwanese patients with Fabry disease and the IVS4+919G>A (IVS4) mutation who underwent endomyocardial biopsy (Shire; Fabry Outcome Survey data; extracted January 2015). Of 24 males and six females (median age [Q1; Q3] at biopsy 60.4 [57.4; 64.1] and 61.3 [60.4; 65.1] years, respectively), 13 males (54.2%) and five females (83.3%) received agalsidase alfa enzyme replacement therapy (ERT) before biopsy...
January 9, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28058828/quinary-interactions-weaken-the-electric-field-generated-by-protein-side-chain-charges-in-the-cell-like-environment
#3
Ning Zhang, Liaoyuan An, Jingwen Li, Zhijun Liu, Lishan Yao
The intramolecular electric field (e-field) generated by protein GB3 side-chain charges K/E10, K/E19, and D/K40 was measured in the absence or presence of macromolecular crowding. The e-field responds differently to different crowding agents-dextran, Ficoll, BSA, and E. coli cell lysate. Dextran and Ficoll have no effect on the e-field. The lysate generally weakens the e-field but the amplitude of weakening varies greatly. For example, the e-field by K19 is reduced by 67% in the presence of 90 g/L lysate, corresponding to a charge change from 0...
January 6, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28053117/gb3-0-a-platform-for-plant-bio-design-that-connects-functional-dna-elements-with-associated-biological-data
#4
Marta Vazquez-Vilar, Alfredo Quijano-Rubio, Asun Fernandez-Del-Carmen, Alejandro Sarrion-Perdigones, Rocio Ochoa-Fernandez, Peio Ziarsolo, José Blanca, Antonio Granell, Diego Orzaez
Modular DNA assembly simplifies multigene engineering in Plant Synthetic Biology. Furthermore, the recent adoption of a common syntax to facilitate the exchange of plant DNA parts (phytobricks) is a promising strategy to speed up genetic engineering. Following this lead, here, we present a platform for plant biodesign that incorporates functional descriptions of phytobricks obtained under pre-defined experimental conditions, and systematically registers the resulting information as metadata for documentation...
January 3, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28049500/metabolic-progression-to-clinical-phenotype-in-classic-fabry-disease
#5
Marco Spada, David Kasper, Veronica Pagliardini, Elisa Biamino, Silvana Giachero, Francesco Porta
BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder due to α-galactosidase A (α-Gal A) deficiency. Clinical onset of Fabry disease is preceded by significant storage of globotriaosylceramide (Gb3) and related glycosphingolipids, but the extent of the metabolic progression before symptoms is unknown. Using a newly recognized effector and marker of Fabry disease, globotriaosylsphingosine (LysoGb3), we aimed to provide a metabolic picture of classic Fabry disease from the neonatal period to childhood...
January 3, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27992211/automated-fragmentation-polarizable-embedding-density-functional-theory-pe-dft-calculations-of-nuclear-magnetic-resonance-nmr-shielding-constants-of-proteins-with-application-to-chemical-shift-predictions
#6
Casper Steinmann, Lars Andersen Bratholm, Jógvan Magnus Haugaard Olsen, Jacob Kongsted
Full-protein nuclear magnetic resonance (NMR) shielding constants based on ab initio calculations are desirable, because they can assist in elucidating protein structures from NMR experiments. In this work, we present NMR shielding constants computed using a new automated fragmentation (J. Phys. Chem. B 2009, 113, 10380-10388) approach in the framework of polarizable embedding density functional theory. We extend our previous work to give both basis set recommendations and comment on how large the quantum mechanical region should be to successfully compute (13)C NMR shielding constants that are comparable with experiment...
January 3, 2017: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/27983599/using-crispr-cas9-mediated-gla-gene-knockout-as-an-in-vitro-drug-screening-model-for-fabry-disease
#7
Hui-Yung Song, Huai-Chih Chiang, Wei-Lien Tseng, Ping Wu, Chian-Shiu Chien, Hsin-Bang Leu, Yi-Ping Yang, Mong-Lien Wang, Yuh-Jyh Jong, Chung-Hsuan Chen, Wen-Chung Yu, Shih-Hwa Chiou
The CRISPR/Cas9 Genome-editing system has revealed promising potential for generating gene mutation, deletion, and correction in human cells. Application of this powerful tool in Fabry disease (FD), however, still needs to be explored. Enzyme replacement therapy (ERT), a regular administration of recombinant human α Gal A (rhα-GLA), is a currently available and effective treatment to clear the accumulated Gb3 in FD patients. However, the short half-life of rhα-GLA in human body limits its application. Moreover, lack of an appropriate in vitro disease model restricted the high-throughput screening of drugs for improving ERT efficacy...
December 13, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27960098/enzymatic-synthesis-of-human-blood-group-p1-pentasaccharide-antigen
#8
Dawa Tsering, Congcong Chen, Jinfeng Ye, Zhipeng Han, Bai-Qian Jing, Xian-Wei Liu, Xi Chen, Fengshan Wang, Peixue Ling, Hongzhi Cao
The enzymatic synthesis of biologically important and structurally unique human P1PK blood group type P1 pentasaccharide antigen is described. This synthesis features a three-step sequential one-pot multienzyme (OPME) glycosylation for the stepwise enzymatic chain elongation of readily available lactoside acceptor with cheap and commercially available galactose and N-acetylglucosamine as donor precursors. This enzymatic synthesis provides an operationally simple approach to access P1 pentasaccharide and its structurally related Gb3 and P1 trisaccharide epitopes...
January 13, 2017: Carbohydrate Research
https://www.readbyqxmd.com/read/27943675/mechanism-of-shiga-toxin-clustering-on-membranes
#9
Weria Pezeshkian, Haifei Gao, Senthil Arumugam, Ulrike Becken, Patricia Bassereau, Jean-Claude Florent, John Hjort Ipsen, Ludger Johannes, Julian C Shillcock
The bacterial Shiga toxin interacts with its cellular receptor, the glycosphingolipid globotriaosylceramide (Gb3 or CD77), as a first step to entering target cells. Previous studies have shown that toxin molecules cluster on the plasma membrane, despite the apparent lack of direct interactions between them. The precise mechanism by which this clustering occurs remains poorly defined. Here, we used vesicle and cell systems and computer simulations to show that line tension due to curvature, height, or compositional mismatch, and lipid or solvent depletion cannot drive the clustering of Shiga toxin molecules...
December 16, 2016: ACS Nano
https://www.readbyqxmd.com/read/27938475/imbalanced-production-of-reactive-oxygen-species-and-mitochondrial-antioxidant-sod2-in-fabry-disease-specific-human-induced-pluripotent-stem-cell-differentiated-vascular-endothelial-cells
#10
Wei-Lien Tseng, Shih-Jie Chou, Huai-Chih Chiang, Mong-Lien Wang, Chian-Shiu Chien, Kuan-Hsuan Chen, Hsin-Bang Leu, Chien-Ying Wang, Yuh-Lih Chang, Yung-Yang Liu, Yuh-Jyh Jong, Shing-Jong Lin, Shih-Hwa Chiou, Wen-Chung Yu, Shinn-Zong Lin
Fabry disease (FD) is an X-linked inherited lysosomal storage disease caused by α-galactosidase A (GLA) deficiency. Progressive intracellular accumulation of globotriaosylceramide (Gb3) is considered to be pathogenically responsible for the phenotype variability of FD that causes cardiovascular dysfunction; however, molecular mechanisms underlying the impairment of FD-associated cardiovascular tissues remain unclear. In this study, we reprogrammed human induced pluripotent stem cells (hiPSC) from peripheral blood cells of patients with FD (FD-iPSCs); subsequently differentiated them into vascular endothelial-like cells (FD-ECs) expressing CD31, VE-cadherin, and vWF; and investigated their ability to form vascular tube-like structures...
6, 2016: Cell Transplantation
https://www.readbyqxmd.com/read/27935765/gb3-binding-lectins-as-potential-carriers-for-transcellular-drug-delivery
#11
Stefan K Müller, Isabel Wilhelm, Thomas Schubert, Katharina Zittlau, Anne Imberty, Josef Madl, Thorsten Eierhoff, Roland Thuenauer, Winfried Römer
OBJECTIVES: Epithelial cell layers as well as endothelia forming the blood-brain barrier can drastically reduce the efficiency of drug targeting. Our goal was to investigate lectins recognizing the glycosphingolipid globotriaosylceramide (Gb3) for their potential as carriers for transcytotic drug delivery. METHODS: We utilized an in vitro model based on Madin-Darby canine kidney cells transfected with Gb3 synthase to characterize transcytosis of the Gb3-binding lectins LecA from Pseudomonas aeruginosa and the B-subunit of Shiga toxin (StxB)...
December 16, 2016: Expert Opinion on Drug Delivery
https://www.readbyqxmd.com/read/27851774/skin-globotriaosylceramide-3-load-is-increased-in-men-with-advanced-fabry-disease
#12
Nurcan Üçeyler, Nils Schröter, Waldemar Kafke, Daniela Kramer, Christoph Wanner, Frank Weidemann, Claudia Sommer
BACKGROUND: The X-chromosomally linked life-limiting Fabry disease (FD) is associated with deposits of the sphingolipid globotriaosylceramide 3 (Gb3) in various tissues. Skin is easily accessible and may be used as an additional diagnostic and follow-up medium. Our aims were to visualize skin Gb3 deposits in FD patients applying immunofluorescence and to determine if cutaneous Gb3 load correlates with disease severity. METHODS: At our Fabry Center for Interdisciplinary Therapy we enrolled 84 patients with FD and 27 healthy controls...
2016: PloS One
https://www.readbyqxmd.com/read/27822335/electrostatic-interactions-and-protein-competition-reveal-a-dynamic-surface-in-gold-nanoparticle-protein-adsorption
#13
Ailin Wang, Y Randika Perera, Mackenzie B Davidson, Nicholas C Fitzkee
Gold nanoparticle- (AuNP-) protein conjugates are potentially useful in a broad array of diagnostic and therapeutic applications, but the physical basis of the simultaneous adsorption of multiple proteins onto AuNP surfaces remains poorly understood. Here, we investigate the contribution of electrostatic interactions to protein-AuNP binding by studying the pH-dependent binding behavior of two proteins, GB3 and ubiquitin. For both proteins, binding to 15-nm citrate-coated AuNPs closely tracks with the predicted net charge using standard pKa values, and a dramatic reduction in binding is observed when lysine residues are chemically methylated...
October 27, 2016: Journal of Physical Chemistry. C, Nanomaterials and Interfaces
https://www.readbyqxmd.com/read/27796613/catfish-rhamnose-binding-lectin-induces-g0-1-cell-cycle-arrest-in-burkitt-s-lymphoma-cells-via-membrane-surface-gb3
#14
Shigeki Sugawara, Changhun Im, Tasuku Kawano, Takeo Tatsuta, Yasuhiro Koide, Daiki Yamamoto, Yasuhiro Ozeki, Kazuo Nitta, Masahiro Hosono
Silurus asotus egg lectin (SAL), an α-galactoside-binding protein isolated from the eggs of catfish, is a member of the rhamnose-binding lectin family that binds to Gb3 glycan (Galα1-4Galβ1-4Glc). We have previously demonstrated that SAL reduces the proliferation of Gb3-expressing Burkitt's lymphoma Raji cells and confirm here that it does not reduce their viability, indicating that unlike other lectins, it is not cytotoxic. The aim of this study was to determine the signal transduction mechanism(s) underlying this novel SAL/Gb3 binding-mediated effect profile...
October 28, 2016: Glycoconjugate Journal
https://www.readbyqxmd.com/read/27773586/plasma-lysogb3-a-useful-biomarker-for-the-diagnosis-and-treatment-of-fabry-disease-heterozygotes
#15
Albina Nowak, Thomas P Mechtler, Robert J Desnick, David C Kasper
BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disorder due to mutations in the α-galactosidase A gene (GLA) that result in absent or markedly reduce α-galactosidase A (α-GalA) enzymatic activity. As a result, the major glycosphingolipid substrates, globotriaosylceramide (Gb3) and globotriaosylsphingosine (LysoGb3) accumulate in plasma, urine and tissue lysosomes. In females, the diagnosis can be complicated by the fact that 40-50% of GLA-mutation confirmed heterozygotes have normal or only slightly decreased leukocyte α-GalA activities...
October 19, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27756537/differences-in-cleavage-of-globotriaosylceramide-and-its-derivatives-accumulated-in-organs-of-young-fabry-mice-following-enzyme-replacement-therapy
#16
Takashi Kodama, Takahiro Tsukimura, Ikuo Kawashima, Atsuko Sato, Hitoshi Sakuraba, Tadayasu Togawa
In Fabry disease, large amounts of globotriaosylceramide (Gb3) and related glycosphingolipids accumulate in organs due to a deficiency of α-galactosidase A (GLA) activity. Enzyme replacement therapy (ERT) with recombinant GLA is now available, and it has been reported that ERT is beneficial for patients with Fabry disease, especially those who start treatment at an early stage of the disease. However, it seems that the efficacy of ERT differs with each organ, and Gb3 accumulated in the kidneys shows resistance to ERT when it is started at a late stage...
October 12, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27735906/-the-neurological-manifestations-of-fabry-disease-a-review
#17
K V Firsov, A S Kotov
Fabry disease (Anderson-Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, alpha-galactosidase A (alpha-Gal A), which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells, predominantly endothelial and vascular smooth muscle cells, with clinical manifestations affecting major organs including the central nervous system. Manifestations of Fabry disease include progressive renal and cardiac insufficiency, neuropathic pain, stroke and cerebral disease, skin and gastrointestinal symptoms...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27734179/quantifying-protein-dynamics-in-the-ps-ns-time-regime-by-nmr-relaxation
#18
Griselda Hernández, David M LeMaster
Both (15)N chemical shift anisotropy (CSA) and sufficiently rapid exchange linebroadening transitions exhibit relaxation contributions that are proportional to the square of the magnetic field. Deconvoluting these contributions is further complicated by residue-dependent variations in protein amide (15)N CSA values which have proven difficult to accurately measure. Exploiting recently reported improvements for the implementation of T1 and T1ρ experiments, field strength-dependent studies have been carried out on the B3 domain of protein G (GB3) as well as on the immunophilin FKBP12 and a H87V variant of that protein in which the major conformational exchange linebroadening transition is suppressed...
October 12, 2016: Journal of Biomolecular NMR
https://www.readbyqxmd.com/read/27733175/increased-urinary-cd80-excretion-and-podocyturia-in-fabry-disease
#19
H Trimarchi, R Canzonieri, A Schiel, C Costales-Collaguazo, J Politei, A Stern, M Paulero, T Rengel, J Andrews, M Forrester, M Lombi, V Pomeranz, R Iriarte, A Muryan, E Zotta, M D Sanchez-Niño, A Ortiz
BACKGROUND: Certain glomerulopathies are associated with increased levels of CD80 (B7-1). We measured the urinary excretion of CD80, podocyturia and proteinuria in controls and in subjects with Fabry disease either untreated or on enzyme replacement therapy (ERT). METHODS: Cross-sectional study including 65 individuals: controls (n = 20) and Fabry patients (n = 45, 23 of them not on ERT and 22 on ERT). Variables included age, gender, urinary protein/creatinine ratio (UPCR), estimated glomerular filtration rate (eGFR), urinary uCD80/creatinine ratio (uCD80) and podocyturia...
October 13, 2016: Journal of Translational Medicine
https://www.readbyqxmd.com/read/27727434/high-risk-screening-of-fabry-disease-analysis-of-fifteen-urinary-methylated-and-non-methylated-gb3-isoforms-using-tandem-mass-spectrometry
#20
Mona Abaoui, Michel Boutin, Pamela Lavoie, Christiane Auray-Blais
Fabry disease is a multisystemic, X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and resulting in the accumulation of glycosphingolipids in different tissues and biological fluids. Glycosphingolipid biomarkers, such as globotriaosylceramide (Gb3 ) isoforms, globotriaosylsphingosine (lyso-Gb3 ) and related analogs, and galabiosylceramide (Ga2 ) isoforms and analogs, are found to be abnormally increased in urine and in plasma of Fabry patients and have the potential to be used as specific biomarkers of the disease...
October 11, 2016: Current Protocols in Human Genetics
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