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https://www.readbyqxmd.com/read/28771902/detection-of-correlated-protein-backbone-and-side-chain-angle-fluctuations
#1
Robert Bryn Fenwick, Beat Rolf Vögeli
NMR methods for the characterization of local protein motions have attained a high level of sophistication. Measurement of the synchronization between those motions, however, poses a serious challenge. Such correlated motions are one of the underlying mechanisms for the propagation of local changes to remote sites and as such for information transfer. Here, we demonstrate the experimental detection of the synchronization of motion over an intermediate range. To that purpose, we designed pulse sequences for the measurement of cross-correlated relaxation between the backbone HN-N and side-chain Hβ-Cβ dipoles in Ile, Thr and Val in the protein GB3...
August 3, 2017: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/28728877/genotype-phenotype-and-disease-severity-reflected-by-serum-lysogb3-levels-in-patients-with-fabry-disease
#2
Albina Nowak, Thomas P Mechtler, Thorsten Hornemann, Joanna Gawinecka, Eva Theswet, Max J Hilz, David C Kasper
BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A (GLA) gene causing deficiency of α-galactosidase A which results in progressive glycosphingolipid accumulation, especially globotriaosylceramide (Gb3), in body liquids and lysosomes. In a large cohort of FD patients, we aimed to establish genotype/phenotype relations as indicated by serum LysoGb3 (deacylated Gb3). METHODS: In 69 consecutive adult FD patients (males: n=28 (41%)) with a GLA-mutation confirmed diagnosis, we conducted a multidisciplinary clinical characterization during their routine annual examinations, and measured serum LysoGb3 levels by high-sensitive electrospray ionization liquid chromatography tandem mass spectrometry...
July 5, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28708979/why-human-anti-gal%C3%AE-1-4gal%C3%AE-1-4glc-natural-antibodies-do-not-recognize-the-trisaccharide-on-erythrocyte-membrane-molecular-dynamics-and-immunochemical-investigation
#3
Pavel Volynsky, Roman Efremov, Ilya Mikhalev, Kira Dobrochaeva, Alexander Tuzikov, Elena Korchagina, Polina Obukhova, Evgenia Rapoport, Nicolai Bovin
BACKGROUND: Human blood contains a big variety of natural antibodies, circulating throughout life at constant concentration. Previously, we have found natural antibodies capable of binding to trisaccharide Galα1-4Galβ1-4Glc (P(k)) practically in all humans. Intriguingly, the same trisaccharide is a key fragment of glycosphingolipid globotriaosylceramide (Gb3Cer) - normal component of erythrocyte and endothelial cell membrane, i.e. the antibodies and their cognate antigen coexist without any immunological reaction...
July 11, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28702361/home-infusion-program-with-enzyme-replacement-therapy-for-fabry-disease-the-experience-of-a-large-italian-collaborative-group
#4
D Concolino, L Amico, M D Cappellini, E Cassinerio, M Conti, M A Donati, F Falvo, A Fiumara, M Maccarone, R Manna, A Matucci, M B Musumeci, A Nicoletti, R Nisticò, F Papadia, R Parini, D Peluso, L Pensabene, A Pisani, G Pistone, M Rigoldi, I Romani, M Tenuta, G Torti, M Veroux, E Zachara
Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in a variety of clinical benefits, life-long intravenous (IV) treatment with ERT with an every other week schedule, may interfere with daily life activities and impact on QoL. We report here a multicentric, observational, longitudinal data analysis on a large cohort of 85 Italian FD patients (45 males, 40 females) from 11 out of 20 Italian regions, who received a cumulative number of 4269 home infusions of agalsidase alfa...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28680430/human-alpha-galactosidases-transiently-produced-in-nicotiana-benthamiana-leaves-new-insights-in-substrate-specificities-with-relevance-for-fabry-disease
#5
Kassiani Kytidou, Thomas J M Beenakker, Lotte B Westerhof, Cornelis H Hokke, Geri F Moolenaar, Nora Goosen, Mina Mirzaian, Maria J Ferraz, Mark de Geus, Wouter W Kallemeijn, Herman S Overkleeft, Rolf G Boot, Arjen Schots, Dirk Bosch, Johannes M F G Aerts
Deficiency of α-galactosidase A (α-GAL) causes Fabry disease (FD), an X-linked storage disease of the glycosphingolipid globtriaosylcerammide (Gb3) in lysosomes of various cells and elevated plasma globotriaosylsphingosine (Lyso-Gb3) toxic for podocytes and nociceptive neurons. Enzyme replacement therapy is used to treat the disease, but clinical efficacy is limited in many male FD patients due to development of neutralizing antibodies (Ab). Therapeutic use of modified lysosomal α-N-acetyl-galactosaminidase (α-NAGAL) with increased α-galactosidase activity (α-NAGAL(EL)) has therefore been suggested...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28672034/skin-globotriaosylceramide-3-deposits-are-specific-to-fabry-disease-with-classical-mutations-and-associated-with-small-fibre-neuropathy
#6
Rocco Liguori, Alex Incensi, Silvia de Pasqua, Renzo Mignani, Enrico Fileccia, Marisa Santostefano, Elena Biagini, Claudio Rapezzi, Silvia Palmieri, Ilaria Romani, Walter Borsini, Alessandro Burlina, Roberto Bombardi, Marco Caprini, Patrizia Avoni, Vincenzo Donadio
BACKGROUND: Fabry Disease (FD) is characterized by globotriaosylceramide-3 (Gb3) accumulation in several tissues and a small fibre neuropathy (SFN), however the underlying mechanisms are poorly known. This study aimed to: 1) ascertain the presence of Gb3 deposits in skin samples, by an immunofluorescence method collected from FD patients with classical GLA mutations or late-onset FD variants or GLA polymorphisms; 2) correlate skin GB3 deposits with skin innervation. METHODS: we studied 52 genetically-defined FD patients (32 with classical GLA mutations and 20 with late-onset variants or GLA polymorphisms), 15 patients with SFN associated with a specific cause and 22 healthy controls...
2017: PloS One
https://www.readbyqxmd.com/read/28663131/correlation-of-lyso-gb3-levels-in-dried-blood-spots-and-sera-from-patients-with-classic-and-later-onset-fabry-disease
#7
Albina Nowak, Thomas Mechtler, David C Kasper, Robert J Desnick
BACKGROUND: Fabry disease (FD), an X-linked lysosomal storage disorder, results from the deficient activity of α-galactosidase A (α-Gal A) and the accumulation of its substrates, globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-Gb3). Here, we compared the levels of Lyso-Gb3 in dried blood spots (DBS) and sera in affected males and heterozygotes with the "Classic" and "Later-Onset" phenotypes. METHODS: The Lyso-Gb3 concentrations in DBS and sera from 56 FD patients were determined by highly sensitive electrospray ionization liquid chromatography tandem mass spectrometry...
August 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28662189/affective-and-cognitive-behavior-in-the-alpha-galactosidase-a-deficient-mouse-model-of-fabry-disease
#8
Lukas Hofmann, Franziska Karl, Claudia Sommer, Nurcan Üçeyler
Fabry disease is an X-linked inherited lysosomal storage disorder with intracellular accumulation of globotriaosylceramide (Gb3) due to α-galactosidase A (α-Gal A) deficiency. Fabry patients frequently report of anxiety, depression, and impaired cognitive function. We characterized affective and cognitive phenotype of male mice with α-Gal A deficiency (Fabry KO) and compared results with those of age-matched male wildtype (WT) littermates. Young (3 months) and old (≥ 18 months) mice were tested in the naïve state and after i...
2017: PloS One
https://www.readbyqxmd.com/read/28649509/fabry-disease-four-case-reports-of-meningioma-and-a-review-of-the-literature-on-other-malignancies
#9
Beth L Thurberg, Dominique P Germain, Fernando Perretta, Iulia E Jurca-Simina, Juan M Politei
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by loss of function mutations in the GLA gene at Xq22 with subsequent functional deficiency of alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide (GL-3 or Gb3) in multiple cells types throughout the body. As with other rare metabolic disorders, little is known about the incidence of malignancies in these populations and the relationship to the underlying disease, if any. We report the occurrence of meningioma in four female patients with Fabry disease...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28636877/lectin-cgl-from-the-sea-mussel-crenomytilus-grayanus-induces-burkitt-s-lymphoma-cells-death-via-interaction-with-surface-glycan
#10
Oleg Chernikov, Alexandra Kuzmich, Irina Chikalovets, Valentina Molchanova, Kuo-Feng Hua
Marine organisms are rich sources of lectins. Lectins are able to bind specifically and reversibly to different types of carbohydrates or glycoproteins. The present study reports the evaluation of glycan binding profile and anti-tumor potential of lectin CGL from the sea mussel Crenomytilus grayanus. Glycan array assay revealed that CGL was able to bind both α and β anomer of galactose, but interaction with the αGal-terminated glycans was stronger. Analysis of most common glycan motifs for CGL showed high affinity to Galα1-4Galβ1-4GlcNAc motif similar to globotriose structure (Gb3: Galα1-4Galβ1-4Glc), the epitope of globotriaosylceramide...
June 19, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28625968/long-term-dose-dependent-agalsidase-effects-on-kidney-histology-in-fabry-disease
#11
Rannveig Skrunes, Camilla Tøndel, Sabine Leh, Kristin Kampevold Larsen, Gunnar Houge, Einar Skulstad Davidsen, Carla Hollak, André B P van Kuilenburg, Frédéric M Vaz, Einar Svarstad
BACKGROUND AND OBJECTIVES: Dose-dependent clearing of podocyte globotriaosylceramide has previously been shown in patients with classic Fabry disease treated with enzyme replacement. Our study evaluates the dose-dependent effects of agalsidase therapy in serial kidney biopsies of patients treated for up to 14 years. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Twenty patients with classic Fabry disease (12 men) started enzyme replacement therapy at a median age of 21 (range =7-62) years old...
June 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28618999/biomarkers-for-diagnosing-and-staging-of-fabry-disease
#12
Johannes Krämer, Frank Weidemann
BACKGROUND: Fabry disease is a X-linked lysosomal storage disorder caused by deficient activity of α -galactosidase A which leads to progressive intracellular accumulation of globotriaosylceramide in tissues and organs including heart, kidney, vascular endothelium, the nervous system, the eyes and the skin. Cardiac involvement is common, leads to fatal complications and is mainly responsible for reduced life expectancy in Fabry disease. The exact staging of disease progression and timely initiation of treatment is essential in Fabry disease...
June 16, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28615118/functional-and-biological-studies-of-%C3%AE-galactosidase-a-variants-with-uncertain-significance-from-newborn-screening-in-taiwan
#13
Hsuan-Chieh Liao, Ting-Rong Hsu, Leslie Young, Chuan-Chi Chiang, Chun-Kai Huang, Hao-Chuan Liu, Dau-Ming Niu, Yann-Jang Chen
Fabry disease is an X-linked disorder resulted from deficiency of α-galactosidase A (GLA) activity. In Taiwan, a total of 792,247 newborns were screened from 2008 to 2014 in two newborn screening centers, and 13 variants of uncertain significance (VOUS) in the GLA gene were identified. To determine whether these variants were pathogenic or not, functional, biochemical, clinical and pedigree analyses were performed. In vitro functional assay was established through site-directed mutagenesis, and four in silico tools were used to predict pathogenesis...
June 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28606018/a-saprophytic-fungus-sepedonium-associated-with-fatal-pneumonia-in-a-patient-undergoing-stem-cell-transplantation
#14
José Arellano-Galindo, Vázquez-Meraz Eugenio, Jiménez-Hernández Elva, Reséndiz-Sánchez Jesús, Martínez-Rivera María de Los Ángeles, Jiménez-Juárez Rodolfo Norberto, Xicohtencatl-Cortes Juan, Ochoa Sara A, Cruz-Córdoba Ariadna
Sepedonium sp . is a saprophytic fungus that inhabits soil and plant material. Few cases of infection with this fungus have been reported. We describe a case of a child who received haploidentical stem cell transplantation. The patient developed Sepedonium sp . infection after graft failure accompanied by cytomegalovirus infection. This was associated with two genotypes corresponding to a gB1 and gB3 mixture, which suggested involvement of two strains. Throughout the clinical course, immunosuppression and subsequent development of the fungal infection was observed...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28592315/efficacy-and-safety-of-enzyme-replacement-therapy-with-agalsidase-alfa-in-36-treatment-na%C3%A3-ve-fabry-disease-patients
#15
Kazuya Tsuboi, Hiroshi Yamamoto
BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the α-galactosidase A gene mutations. Enzyme-replacement-therapy (ERT) products for FD currently used include agalsidase alfa and agalsidase beta. There are many reports on efficacy and safety of ERT. However, most of the previous studies are done as a retrospective medical records analysis. METHODS: The Japan Fabry Research - 002 (JFR-002) was a prospective observational clinical study of 36 ERT-naïve FD patients (14 men and 22 women) at baseline (BL) and after initiation of ERT with agalsidase alfa 0...
June 7, 2017: BMC Pharmacology & Toxicology
https://www.readbyqxmd.com/read/28541675/prediction-of-bond-vector-autocorrelation-functions-from-larmor-frequency-selective-order-parameter-analysis-of-nmr-relaxation-data
#16
Janet S Anderson, Griselda Hernández, David M LeMaster
Protein molecular dynamics interpretation of the standard R1, R2, and heteronuclear NOE relaxation measurements has typically been limited to a single S(2) order parameter which is often insufficient to characterize the rich content of these NMR experiments. In the absence of exchange linebroadening, an optimized reduced spectral density analysis of these measurements can yield spectral density values at three distinct frequencies. Surprisingly, these three discrete spectral density values have proven to be sufficient for a Larmor frequency-selective order parameter analysis of the 223 methine and methylene H-C bonds of the B3 domain of Protein G (GB3) to accurately back-calculate the entire curve of the corresponding bond vector autocorrelation functions upon which the NMR relaxation behavior depends...
June 6, 2017: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/28526293/new-biomarkers-defining-a-novel-early-stage-of-fabry-nephropathy-a-diagnostic-test-study
#17
Patrício Aguiar, Olga Azevedo, Rui Pinto, Jacira Marino, Robert Baker, Carlos Cardoso, José Luís Ducla Soares, Derralynn Hughes
BACKGROUND: Renal involvement in Fabry disease is a major determinant of overall disease prognosis and early enzyme replacement therapy seems effective in preventing progression of kidney injury. Gb3 storage, glomerular sclerosis and tubulo-interstitial fibrosis may occur with minimal or no changes on standard renal tests, hence alternative markers of renal dysfunction are crucial. In this study we compared several biomarkers with albuminuria in the identification of incipient Fabry nephropathy and their diagnostic accuracy to identify chronic kidney disease (CKD) stage≥2...
May 13, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28523190/expression-of-upar-in-urinary-podocytes-of-patients-with-fabry-disease
#18
Hernán Trimarchi, Romina Canzonieri, Amalia Schiel, Juan Politei, Cristian Costales-Collaguazo, Aníbal Stern, Matías Paulero, Tatiana Rengel, Lara Valiño-Rivas, Mariano Forrester, Fernando Lombi, Vanesa Pomeranz, Romina Iriarte, Alexis Muryan, Alberto Ortiz, María Dolores Sanchez-Niño, Elsa Zotta
Background. Despite enzyme replacement therapy, Fabry nephropathy still progresses. Podocyturia is an irreversible event that antedates proteinuria and leads to chronic renal failure. We evaluated a potential mechanism of podocyte detachment via the expression of the urokinase-type Plasminogen Activator Receptor (uPAR) in urinary podocytes of Fabry patients. Methods. This is a cross-sectional study that included controls (n = 20) and Fabry patients (n = 44) either untreated (n = 23) or treated with agalsidase-β (n = 21)...
2017: International Journal of Nephrology
https://www.readbyqxmd.com/read/28496025/identification-of-a-novel-gla-gene-mutation-p-ile239met-in-fabry-disease-with-a-predominant-cardiac-phenotype
#19
Beáta Csányi, Lidia Hategan, Viktória Nagy, Izabella Obál, Edina T Varga, János Borbás, Annamária Tringer, Sabrina Eichler, Tamás Forster, Arndt Rolfs, Róbert Sepp
Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, encoding for the enzyme α-galactosidase A. Although hundreds of mutations in the GLA gene have been described, many of them are variants of unknown significance. Here we report a novel GLA mutation, p.Ile239Met, identified in a large Hungarian three-generation family with FD. A 69 year-old female index patient with a clinical history of renal failure, hypertrophic cardiomyopathy, and 2nd degree AV block was screened for mutation in the GLA gene...
May 31, 2017: International Heart Journal
https://www.readbyqxmd.com/read/28474463/entropy-drives-the-formation-of-salt-bridges-in-the-protein-gb3
#20
Ning Zhang, Yefei Wang, Liaoyuan An, Xiangfei Song, Qingshan Huang, Zhijun Liu, Lishan Yao
Salt bridges are very common in proteins. But what drives the formation of protein salt bridges is not clear. In this work, we determined the strength of four salt bridges in the protein GB3 by measuring the ΔpKa values of the basic residues that constitute the salt bridges with a highly accurate NMR titration method at different temperatures. The results show that the ΔpKa values increase with temperature, thus indicating that the salt bridges are stronger at higher temperatures. Fitting of ΔpKa values to the van't Hoff equation yields positive ΔH and ΔS values, thus indicating that entropy drives salt-bridge formation...
May 4, 2017: Angewandte Chemie
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