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https://www.readbyqxmd.com/read/29674318/nicotiana-benthamiana-%C3%AE-galactosidase-a1-1-can-functionally-complement-human-%C3%AE-galactosidase-a-deficiency-associated-with-fabry-disease
#1
Kassiani Kytidou, Jules Beekwilder, Marta Artola, Eline van Meel, Ruud H P Wilbers, Geri F Moolenaar, Nora Goosen, Maria J Ferraz, Rebecca Katzy, Patrick Voskamp, Bogdan I Florea, Cornelis H Hokke, Herman S Overkleeft, Arjen Schots, Dirk Bosch, Navraj Pannu, Johannes M F G Aerts
α-Galactosidases (EC 3.2.1.22) are retaining glycosidases that cleave terminal α-linked galactose residues from glycoconjugate substrates. α-Galactosidases take part in the turnover of cell wall-associated galactomannans in plants and in the lysosomal degradation of glycosphingolipids in animals. Deficiency of human α-galactosidase A (α-Gal A) causes Fabry disease (FD), a heritable, X-linked lysosomal storage disorder, characterized by accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lysoGb3)...
April 19, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29661900/increased-resting-cerebral-blood-flow-in-adult-fabry-disease-mri-arterial-spin-labeling-study
#2
Po Phyu, Aine Merwick, Indran Davagnanam, Fay Bolsover, Fatima Jichi, Claudia Wheeler-Kingshott, Xavier Golay, Deralynn Hughes, Lisa Cipolotti, Elaine Murphy, Robin H Lachmann, David John Werring
OBJECTIVE: To assess resting cerebral blood flow (CBF) in the whole-brain and cerebral white matter (WM) and gray matter (GM) of adults with Fabry disease (FD), using arterial spin labeling (ASL) MRI, and to investigate CBF correlations with WM hyperintensity (WMH) volume and the circulating biomarker lyso-Gb3. METHODS: This cross-sectional, case-control study included 25 patients with genetically confirmed FD and 18 age-matched healthy controls. We quantified resting CBF using Quantitative Signal Targeting With Alternating Radiofrequency Labeling of Arterial Regions (QUASAR) ASL MRI...
April 17, 2018: Neurology
https://www.readbyqxmd.com/read/29656081/utilizing-dipole-dipole-cross-correlated-relaxation-for-the-measurement-of-angles-between-pairs-of-opposing-c%C3%AE-h%C3%AE-c%C3%AE-h%C3%AE-bonds-in-anti-parallel-%C3%AE-sheets
#3
T Michael Sabo, Vytautas Gapsys, Korvin F A Walter, R Bryn Fenwick, Stefan Becker, Xavier Salvatella, Bert L de Groot, Donghan Lee, Christian Griesinger
Dipole-dipole cross-correlated relaxation (CCR) between two spin pairs is rich with macromolecular structural and dynamic information on inter-nuclear bond vectors. Measurement of short range dipolar CCR rates has been demonstrated for a variety of inter-nuclear vector spin pairs in proteins and nucleic acids, where the multiple quantum coherence necessary for observing the CCR rate is created by through-bond scalar coupling. In principle, CCR rates can be measured for any pair of inter-nuclear vectors where coherence can be generated between one spin of each spin pair, regardless of both the distance between the two spin pairs and the distance of the two spins forming the multiple quantum coherence...
April 12, 2018: Methods: a Companion to Methods in Enzymology
https://www.readbyqxmd.com/read/29621274/phenotype-and-biochemical-heterogeneity-in-late-onset-fabry-disease-defined-by-n215s-mutation
#4
L Lavalle, A S Thomas, B Beaton, H Ebrahim, M Reed, U Ramaswami, P Elliott, A B Mehta, D A Hughes
BACKGROUND: Fabry disease (FD) results from X-linked inheritance of a mutation in the GLA gene, encoding for alpha galactosidase A, and is characterized by heterogeneous clinical manifestations. Two phenotypes have been described "Classic" and "late onset" which cannot be predicted exclusively by genotype. The latter has been considered an attenuated form of the disease often affecting a single organ system commonly the heart. Recent studies have demonstrated that cardiac outcomes are similar in patients with classic and late onset mutations...
2018: PloS One
https://www.readbyqxmd.com/read/29618309/genetics-and-gene-therapy-of-anderson-fabry-disease
#5
Irene Simonetta, Antonino Tuttolomondo, Tiziana Di Chiara, Salvatore Miceli
Fabry's disease is a genetic disorder of X-linked inheritance caused by mutations in the alpha galactosidase A gene resulting in deficiency of this lysosomal enzyme. The progressive accumulation of glycosphingolipids, caused by the inadequate enzymatic activity, is responsible of organ dysfunction and thus of clinical manifestations. In presence of a high clinical suspicion, a careful physical examination and specific laboratory tests are required, finally diagnosis of Fabry's disease is confirmed by demonstration of absence or reduced alpha galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females; in fact the performance of enzymatic activity assay alone in women is inconclusive...
April 4, 2018: Current Gene Therapy
https://www.readbyqxmd.com/read/29582965/-screening-test-of-fabry-disease-in-patients-with-renal-replacement-therapy-in-the-city-of-modena
#6
Gaetano Alfano, Nicola Ganda, Caterina Cerami, Giacomo Mori, Francesco Fontana, Gianni Cappelli
Background: Fabry disease is a rare genetic lysosomal storage disease, inherited in an X-linked manner, characterized by lysosomal deposition of globotriaosylceramide due to deficient activity of the enzyme α-galactosidase A. Because the prevalence of this genetic disorder is unknown in the Emilia Romagna region, we conducted a screening study to assess the prevalence of Fabry disease in the city of Modena, Italy. Material and Methods: A screening study has been conducted in patients on renal replacement therapy at University Hospital of Modena...
March 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29563981/clinical-significance-of-plasma-globotriaosylsphingosine-levels-in-chinese-patients-with-fabry-disease
#7
Yan Ouyang, Bing Chen, Xiaoxia Pan, Zhaohui Wang, Hong Ren, Yaowen Xu, Liyan Ni, Xialian Yu, Li Yang, Nan Chen
Although plasma globotriaosylsphingosine (lyso-Gb3) is a promising biomarker of Fabry disease (FD), few studies have assessed the impact of lyso-Gb3 in patients with FD. A total of 38 patients diagnosed with FD at Ruijin Hospital between January 2012 and December 2014 were recruited in the current study. An additional 120 unrelated healthy individuals were selected as healthy controls. A simplified liquid chromatography-tandem mass spectrometry (LC-MS/MS) assay was performed to determine lyso-Gb3 levels in plasma...
April 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29558749/fabry-nephropathy-an-evidence-based-narrative-review
#8
María Del Pino, Amado Andrés, Ana Ávila Bernabéu, Joaquín de Juan-Rivera, Elvira Fernández, Juan de Dios García Díaz, Domingo Hernández, José Luño, Isabel Martínez Fernández, José Paniagua, Manuel Posada de la Paz, José Carlos Rodríguez-Pérez, Rafael Santamaría, Roser Torra, Joan Torras Ambros, Pedro Vidau, Josep-Vicent Torregrosa
Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in many cell types throughout the body, including the kidney. Progressive accumulation of Gb3 in podocytes, endothelial cells, epithelial cells, and tubular cells contribute to the renal symptoms of FD, which manifest as proteinuria and reduced glomerular filtration rate leading to renal insufficiency...
March 16, 2018: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29553830/medullary-thick-ascending-limb-impairment-in-the-gla-tm-tg-cag-a4galt-fabry-model-mice
#9
Hiroki Maruyama, Atsumi Taguchi, Yuji Nishikawa, Chu Guili, Mariko Mikame, Masaaki Nameta, Yutaka Yamaguchi, Mitsuhiro Ueno, Naofumi Imai, Yumi Ito, Takahiko Nakagawa, Ichiei Narita, Satoshi Ishii
A main feature of Fabry disease is nephropathy, with polyuria an early manifestation; however, the mechanism that underlies polyuria and affected tubules is unknown. To increase globotriaosylceramide (Gb3) levels, we previously crossbred asymptomatic Glatm mice with transgenic mice that expressed human Gb3 synthase (A4GALT) and generated the Glatm Tg(CAG-A4GALT) symptomatic Fabry model mice. Additional analyses revealed that these mice exhibit polyuria and renal dysfunction without remarkable glomerular damage...
March 19, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29549423/udp-glucose-ceramide-glucosyltransferase-activates-akt-promoted-proliferation-and-doxorubicin-resistance-in-breast-cancer-cells
#10
Marthe-Susanna Wegner, Nina Schömel, Lisa Gruber, Stephanie Beatrice Örtel, Matti Aleksi Kjellberg, Peter Mattjus, Jennifer Kurz, Sandra Trautmann, Bing Peng, Martin Wegner, Manuel Kaulich, Robert Ahrends, Gerd Geisslinger, Sabine Grösch
The UDP-glucose ceramide glucosyltransferase (UGCG) is a key enzyme in the synthesis of glycosylated sphingolipids, since this enzyme generates the precursor for all complex glycosphingolipids (GSL), the GlcCer. The UGCG has been associated with several cancer-related processes such as maintaining cancer stem cell properties or multidrug resistance induction. The precise mechanisms underlying these processes are unknown. Here, we investigated the molecular mechanisms occurring after UGCG overexpression in breast cancer cells...
March 17, 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29543226/effectiveness-of-plasma-lyso-gb3-as-a-biomarker-for-selecting-high-risk-patients-with-fabry-disease-from-multispecialty-clinics-for-genetic-analysis
#11
Hiroki Maruyama, Kaori Miyata, Mariko Mikame, Atsumi Taguchi, Chu Guili, Masaru Shimura, Kei Murayama, Takeshi Inoue, Saori Yamamoto, Koichiro Sugimura, Koichi Tamita, Toshihiro Kawasaki, Jun Kajihara, Akifumi Onishi, Hitoshi Sugiyama, Teiko Sakai, Ichijiro Murata, Takamasa Oda, Shigeru Toyoda, Kenichiro Hanawa, Takeo Fujimura, Shigehisa Ura, Mimiko Matsumura, Hideki Takano, Satoshi Yamashita, Gaku Matsukura, Ryushi Tazawa, Tsuyoshi Shiga, Mio Ebato, Hiroshi Satoh, Satoshi Ishii
PurposePlasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females.MethodsBetween 1 July 2014 and 31 December 2015, we screened 2,360 patients (1,324 males) referred from 169 Japanese specialty clinics (cardiology, nephrology, neurology, and pediatrics), based on clinical symptoms suggestive of Fabry disease. We used the plasma lyso-Gb3 concentration, α-galactosidase A (α-Gal A) activity, and analysis of the α-Gal A gene (GLA) for primary and secondary screens, respectively...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29530250/analysis-of-globotriaosylceramide-gb-3-isoforms-analogs-in-unfractionated-leukocytes-b-lymphocytes-and-monocytes-from-fabry-patients-using-ultra-high-performance-liquid-chromatography-tandem-mass-spectrometry
#12
Amanda Toupin, Pamela Lavoie, Marie-Françoise Arthus, Mona Abaoui, Michel Boutin, Carole Fortier, Claudia Ménard, Daniel G Bichet, Christiane Auray-Blais
Fabry disease is an X-linked lysosomal storage disorder with marked variability in the phenotype and genotype. Glycosphingolipids such as globotriaosylceramide (Gb3 ) isoforms/analogs, globotriaosylsphingosine (lyso-Gb3 ) and analogs, and galabiosylceramide (Ga2 ) isoforms/analogs may accumulate in biological fluids and different organs. The aims of this study were to: 1) develop/validate a novel UHPLC-MS/MS method for relative quantitation of Gb3 in leukocytes (unfractionated white blood cells), B lymphocytes and monocytes; 2) evaluate these biomarkers in a cohort of Fabry patients and healthy controls; and 3) assess correlations between these biomarkers, treatment and genotype...
July 26, 2018: Analytica Chimica Acta
https://www.readbyqxmd.com/read/29494518/structural-basis-for-the-specific-neutralization-of-stx2a-with-a-camelid-single-domain-antibody-fragment
#13
Robert Alvin Bernedo-Navarro, Ema Romão, Tomomasa Yano, Joar Pinto, Henri De Greve, Yann G-J Sterckx, Serge Muyldermans
BACKGROUND: Shiga toxin-producing Escherichia coli (STEC) are a subset of pathogens leading to illnesses such as diarrhea, hemolytic uremic syndrome and even death. The Shiga toxins are the main virulence factors and divided in two groups: Stx1 and Stx2, of which the latter is more frequently associated with severe pathologies in humans. RESULTS: An immune library of nanobodies (Nbs) was constructed after immunizing an alpaca with recombinant Shiga toxin-2a B subunit (rStx2aB), to retrieve multiple rStx2aB-specific Nbs...
March 1, 2018: Toxins
https://www.readbyqxmd.com/read/29480712/direct-observation-of-ch-ch-van-der-waals-interactions-in-proteins-by-nmr
#14
Jingwen Li, Yefei Wang, Liaoyuan An, Jingfei Chen, Lishan Yao
van der Waals interactions are important to protein stability and function. These interactions are usually identified empirically based on protein 3D structures. In this work, we performed a solution nuclear magnetic resonance (NMR) spectroscopy study of van der Waals interactions by detecting the through-spacevdw JCC -coupling between protein aliphatic side chain groups. Specifically,vdw JCC -coupling values up to ∼0.5 Hz were obtained between the methyl and nearby aliphatic groups in protein GB3, providing direct experimental evidence for the van der Waals interactions...
February 26, 2018: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/29440708/differential-role-of-fl-bid-and-t-bid-during-verotoxin-1-induced-apoptosis-in-burkitt-s-lymphoma-cells
#15
Justine Debernardi, Emilie Hollville, Marc Lipinski, Joëlle Wiels, Aude Robert
The globotriaosylceramide Gb3 is a glycosphingolipid expressed on a subpopulation of germinal center B lymphocytes which has been recognized as the B cell differentiation antigen CD77. Among tumoral cell types, Gb3/CD77 is strongly expressed in Burkitt's lymphoma (BL) cells as well as other solid tumors including breast, testicular and ovarian carcinomas. One known ligand of Gb3/CD77 is Verotoxin-1 (VT-1), a Shiga toxin produced in specific E. coli strains. Previously, we have reported that in BL cells, VT-1 induces apoptosis via a caspase-dependent and mitochondria-dependent pathway...
February 14, 2018: Oncogene
https://www.readbyqxmd.com/read/29432805/intracellular-drug-delivery-potential-usefulness-of-engineered-shiga-toxin-subunit-b-for-targeted-cancer-therapy
#16
REVIEW
Vera Luginbuehl, Nicolas Meier, Karin Kovar, Jack Rohrer
A treasure trove of intracellular cancer drug targets remains hidden behind cell membranes. However, engineered pathogen-derived toxins such as Shiga toxins can deliver small or macromolecular drugs to specific intracellular organelles. After binding to ganglioglobotriaosylceramide (Gb3, CD77), the non-toxic subunit B (StxB) of the Shiga-holotoxin is endocytosed and delivers its payload by a unique retrograde trafficking pathway via the endoplasmic reticulum to the cytosol. This review provides an overview of biomedical applications of StxB-based drug delivery systems in targeted cancer diagnosis and therapy...
February 9, 2018: Biotechnology Advances
https://www.readbyqxmd.com/read/29422803/distribution-of-cytomegalovirus-genotypes-among-ulcerative-colitis-patients-in-okinawa-japan
#17
Saifun Nahar, Akira Hokama, Atsushi Iraha, Tetsuya Ohira, Tetsu Kinjo, Tetsuo Hirata, Takeshi Kinjo, Gretchen L Parrott, Jiro Fujita
Background/Aims: To determine the prevalence of glycoprotein B (gB), glycoprotein N (gN), and glycoprotein H (gH) genotypes of human cytomegalovirus (HCMV) superimposed on ulcerative colitis (UC) patients in Japan. Methods: Four archived stool samples and 7-archived extracted DNA from stool samples of 11 UC patients with positive multiplex polymerase chain reaction (PCR) results for HCMV were used UL55 gene encoding gB, UL73 gene encoding gN, and UL75 gene encoding gH were identified by PCR...
January 2018: Intestinal Research
https://www.readbyqxmd.com/read/29402852/cytomegalovirus-glycoprotein-b-genotype-distribution-in-italian-transplant-patients
#18
Marco Ciotti, Eleonora Cella, Massimo Rittà, Massimo Ciccozzi, Rossana Cavallo, Carlo Federico Perno, Cristina Costa
BACKGROUND: The cytomegalovirus (CMV) UL55 gene encodes for a glycoprotein implicated in virus pathogenesis. Based on UL55 polymorphism, CMV has been divided into 4 genotypes. Previous studies investigated the possible role of genotypes in the clinical outcome of infection in different categories of patients; however, few data are available, particularly in the transplant setting and Italian case records. METHODS: Phylogenetic analysis through a maximum likelihood tree was used to evaluate the prevalence and distribution of CMV genotypes in whole blood specimens from 47 transplant patients and investigate the relation with demographic and clinical features...
February 2, 2018: Intervirology
https://www.readbyqxmd.com/read/29343457/sphingolipid-signaling-in-renal-fibrosis
#19
REVIEW
Andrea Huwiler, Josef Pfeilschifter
Over the last decade, various sphingolipid subspecies have gained increasing attention as important signaling molecules that regulate a multitude of physiological and pathophysiological processes including inflammation and tissue remodeling. These mediators include ceramide, sphingosine 1-phosphate (S1P), the cerebroside glucosylceramide, lactosylceramide, and the gangliosides GM3 and Gb3. These lipids have been shown to accumulate in various chronic kidney diseases that typically end in renal fibrosis and ultimately renal failure...
January 14, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29288396/plasma-lyso-gb3-a-biomarker-for-monitoring-fabry-patients-during-enzyme-replacement-therapy
#20
Hitoshi Sakuraba, Tadayasu Togawa, Takahiro Tsukimura, Hiroshi Kato
BACKGROUND: Recently, globotriaosylsphingosine (lyso-Gb3) has attracted interest as a biomarker of Fabry disease. However, little is known regarding its utility for the evaluation of the therapeutic efficacy. METHOD: We measured plasma lyso-Gb3 concentration in Japanese healthy subjects and Fabry patients by means of liquid chromatography-tandem mass spectrometry (LC-MS/MS). We determined the reference interval in Japanese (UMIN000016854), and examined the effect of enzyme replacement therapy (ERT) with recombinant α-galactosidase A (GLA) and the influence of antibodies against the enzyme on the plasma lyso-Gb3 level in Fabry patients (UMIN000017152)...
December 29, 2017: Clinical and Experimental Nephrology
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