keyword
MENU ▼
Read by QxMD icon Read
search

Gb3

keyword
https://www.readbyqxmd.com/read/29215092/improvement-in-the-sensitivity-of-newborn-screening-for-fabry-disease-among-females-through-the-use-of-a-high-throughput-and-cost-effective-method-dna-mass-spectrometry
#1
Yung-Hsiu Lu, Po-Hsun Huang, Li-Yun Wang, Ting-Rong Hsu, Hsing-Yuan Li, Pi-Chang Lee, Yu-Ping Hsieh, Sheng-Che Hung, Yu-Chen Wang, Sheng-Kai Chang, Ya-Ting Lee, Ping-Hsun Ho, Hui-Chen Ho, Dau-Ming Niu
Many female carriers of Fabry disease are likely to develop severe morbidity and mortality. However, by our own estimation, around 80% of female newborns are missed by our current enzyme-based screening approach. Our team's aim was to develop an improved cost-effective screening method that is able to detect Fabry disease among female newborns. In Taiwan, based on a database of 916,000 newborns, ~98% of Fabry patients carry mutations out of a pool of only 21 pathogenic mutations. An Agena iPLEX platform was designed to detect these 21 pathogenic mutations using only a single-assay panel...
November 15, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29196726/emergence-of-ba9-genotype-of-human-respiratory-syncytial-virus-subgroup-b-in-china-from-2006-to-2014
#2
Jinhua Song, Huiling Wang, Jing Shi, Aili Cui, Yanzhi Huang, Liwei Sun, Xingyu Xiang, Chaofeng Ma, Pengbo Yu, Zifeng Yang, Qi Li, Teresa I Ng, Yan Zhang, Rongbo Zhang, Wenbo Xu
A study was conducted to investigate the circulation of HRSV subgroup B (HRSVB) in China in recent years. HRSVB sequences from 365 samples collected in 1991, 2004 and 2008-2014 in China, together with 332 Chinese HRSVB sequences obtained from GenBank were analyzed to determine the geographic and yearly distribution of HRSVB. Phylogenetic analysis revealed these HRSVB sequences clustered into 4 genotypes with different frequencies: BA (83%), CB1 (11%), SAB (3.0%) and GB3 (0.7%). Between 2005 and 2013, there was a co-circulation of BA and non-BA genotypes in China...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29196214/the-lysosomal-enzyme-alpha-galactosidase-a-is-deficient-in-parkinson-s-disease-brain-in-association-with-the-pathologic-accumulation-of-alpha-synuclein
#3
Michael P Nelson, Michel Boutin, Tonia E Tse, Hailin Lu, Emily D Haley, Xiaosen Ouyang, Jianhua Zhang, Christiane Auray-Blais, John J Shacka
The aberrant accumulation of alpha-synuclein (α-syn) is believed to contribute to the onset and pathogenesis of Parkinson's disease (PD). The autophagy-lysosome pathway (ALP) is responsible for the high capacity clearance of α-syn. ALP dysfunction is documented in PD and pre-clinical evidence suggests that inhibiting the ALP promotes the pathological accumulation of α-syn. We previously identified the pathological accumulation of α-syn in the brains of mice deficient for the soluble lysosomal enzyme alpha-Galactosidase A (α-Gal A), a member of the glycosphingolipid metabolism pathway...
November 28, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/29186537/fabry-disease-under-enzyme-replacement-therapy-new-insights-in-efficacy-of-different-dosages
#4
Johannes Krämer, Malte Lenders, Sima Canaan-Kühl, Peter Nordbeck, Nurcan Üçeyler, Daniela Blaschke, Thomas Duning, Stefanie Reiermann, Jörg Stypmann, Stefan-Martin Brand, Timo Gottschling, Stefan Störk, Christoph Wanner, Claudia Sommer, Eva Brand, Frank Weidemann
Background: Fabry patients on reduced dose of agalsidase-beta or after switch to agalsidase-alfa show a decline in estimated glomerular filtration rate (eGFR) and an increase of the Mainz Severity Score Index. Methods: In this prospective observational study, we assessed end-organ damage and clinical symptoms in 112 patients who had received agalsidase-beta (1.0 mg/kg) for >1 year, who were (i) non-randomly assigned to continue this treatment regime (regular-dose group, n = 37); (ii) received a reduced dose of agalsidase-beta and subsequent switch to agalsidase-alfa (0...
November 23, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29161295/cardiac-and-renal-dysfunction-is-associated-with-progressive-hearing-loss-in-patients-with-fabry-disease
#5
Maria Köping, Wafaa Shehata-Dieler, Mario Cebulla, Kristen Rak, Daniel Oder, Jonas Müntze, Peter Nordbeck, Christoph Wanner, Rudolf Hagen, Sebastian Schraven
BACKGROUND: Fabry disease (FD) is an X-linked recessive hereditary lysosomal storage disorder which results in the accumulation of globotriaosylceramid (Gb3) in tissues of kidney and heart as well as central and peripheral nervous system. Besides prominent renal and cardiac organ involvement, cochlear symptoms like high-frequency hearing loss and tinnitus are frequently found with yet no comprehensive data available in the literature. OBJECTIVE: To examine hearing loss in patients with FD depending on cardiac and renal function...
2017: PloS One
https://www.readbyqxmd.com/read/29116557/bidirectional-band-selective-magnetization-transfer-along-the-protein-backbone-doubles-the-information-content-of-solid-state-nmr-correlation-experiments
#6
M M Jolly, J A Jarvis, M Carravetta, M H Levitt, P T F Williamson
Resonance assignment is the first stage towards solving the structure of a protein. This is normally achieved by the employment of separate inter and intra residue experiments. By utilising the mixed rotation and rotary recoupling (MIRROR) condition it is possible to double the information content through the efficient bidirectional transfer of magnetization from the CO to its adjacent Cα and the Cα of the subsequent amino acid. We have incorporated this into a 3D experiment, a 3D-MIRROR-NCOCA, where correlations present in the 3D spectrum permit the sequential assignment of the protein backbone from a single experiment as we have demonstrated on a microcrystalline preparation of GB3...
November 8, 2017: Journal of Biomolecular NMR
https://www.readbyqxmd.com/read/29099167/separation-and-analysis-of-lactosylceramide-galabiosylceramide-and-globotriaosylceramide-by-lc-ms-ms-in-urine-of-fabry-disease-patients
#7
Michel Boutin, Iskren Menkovic, Tristan Martineau, Vanessa Vaillancourt-Lavigueur, Amanda Toupin, Christiane Auray-Blais
Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A (α-GAL A) deficiency. This enzyme contributes to the cellular recycling of glycosphingolipids such as galabiosylceramide (Ga2), globotriaosylceramide (Gb3), and globotriaosylsphingosine (lyso-Gb3) by hydrolyzing the terminal α-galactosyl moiety. Urine and plasma α-GAL A substrates are currently analyzed as biomarkers for the detection, monitoring, and follow-up of Fabry disease patients. The sensitivity of the analysis of Ga2 is decreased by the co-analysis of its structural isomer, lactosylceramide (LacCer), which is not an α-GAL A substrate...
November 27, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/29096508/links-between-the-charge-model-and-bonded-parameter-force-constants-in-biomolecular-force-fields
#8
David S Cerutti, Karl T Debiec, David A Case, Lillian T Chong
The ff15ipq protein force field is a fixed charge model built by automated tools based on the two charge sets of the implicitly polarized charge method: one set (appropriate for vacuum) for deriving bonded parameters and the other (appropriate for aqueous solution) for running simulations. The duality is intended to treat water-induced electronic polarization with an understanding that fitting data for bonded parameters will come from quantum mechanical calculations in the gas phase. In this study, we compare ff15ipq to two alternatives produced with the same fitting software and a further expanded data set but following more conventional methods for tailoring bonded parameters (harmonic angle terms and torsion potentials) to the charge model...
October 28, 2017: Journal of Chemical Physics
https://www.readbyqxmd.com/read/29072716/measurement-of-14-n-quadrupole-couplings-in-biomolecular-solids-using-indirect-detection-14-n-solid-state-nmr-with-dnp
#9
J A Jarvis, I Haies, M Lelli, A J Rossini, I Kuprov, M Carravetta, P T F Williamson
The quadrupolar interaction experienced by the spin-1 (14)N nucleus is known to be extremely sensitive to local structure and dynamics. Furthermore, the (14)N isotope is 99.6% naturally abundant, making it an attractive target for characterisation of nitrogen-rich biological molecules by solid-state NMR. In this study, dynamic nuclear polarization (DNP) is used in conjunction with indirect (14)N detected solid-state NMR experiments to simultaneously characterise the quadrupolar interaction at multiple (14)N sites in the backbone of the microcrystalline protein, GB3...
November 7, 2017: Chemical Communications: Chem Comm
https://www.readbyqxmd.com/read/28988177/fabry-disease-due-to-d313y-and-novel-gla-mutations
#10
Konstantinos Koulousios, Konstantinos Stylianou, Panagiotis Pateinakis, Maria Zamanakou, Gedeon Loules, Eleni Manou, Parthena Kyriklidou, Christos Katsinas, Alexandra Ouzouni, John Kyriazis, Matthaios Speletas, Anastasios E Germenis
OBJECTIVES: Our aim is to report four novel α-gal A gene (GLA) mutations resulting in Fabry disease (FD) and provide evidence of pathogenicity of the D313Y mutation regarding which contradictory data have been presented in the literature. SETTING AND PARTICIPANTS: Twenty-five family members of nine unrelated patients with definite FD diagnosis, 10 clinically suspected cases and 18 members of their families were included in this polycentric cohort study. PRIMARY AND SECONDARY OUTCOME MEASURES: Genotyping and measurement of lyso-Gb3 was performed in all individuals...
October 6, 2017: BMJ Open
https://www.readbyqxmd.com/read/28947349/contribution-of-inflammatory-pathways-to-fabry-disease-pathogenesis
#11
REVIEW
Paula Rozenfeld, Sandro Feriozzi
Lysosomal storage diseases are usually considered to be pathologies in which the passive deposition of unwanted materials leads to functional changes in lysosomes. Lysosomal deposition of unmetabolized glycolipid substrates stimulates the activation of pathogenic cascades, including immunological processes, and particularly the activation of inflammation. In lysosomal storage diseases, the inflammatory response is continuously being activated because the stimulus cannot be eliminated. Consequently, inflammation becomes a chronic process...
September 13, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28941080/gb3-glycosphingolipids-with-fluorescent-oligoene-fatty-acids-synthesis-and-phase-behavior-in-model-membranes
#12
Lukas J Patalag, Jeremias Sibold, Ole M Schütte, Claudia Steinem, Daniel B Werz
Glycosphingolipids are involved in a number of physiological and pathophysiological processes, and they serve as receptors for a variety of bacterial toxins and viruses. To investigate their function in lipid membranes, fluorescently labeled glycosphingolipids are highly desirable. Herein, a synthetic route to access Gb3 glycosphingolipids with fluorescently labeled fatty acids, consisting of pentaene and hexaene moieties either at the terminus or in the middle of the acyl chain, has been developed. The fluorescent properties of the Gb3 derivatives were investigated in small unilamellar vesicles composed of a raft-like mixture...
September 20, 2017: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/28933415/integrative-systems-biology-investigation-of-fabry-disease
#13
Marco Fernandes, Holger Husi
Fabry disease (FD) is a rare X-linked recessive genetic disorder caused by a deficient activity of the lysosomal enzyme alpha-galactosidase A (GLA) and is characterised by intra-lysosomal accumulation of globotriaosylceramide (Gb3). We performed a meta-analysis of peer-reviewed publications including high-throughput omics technologies including naïve patients and those undergoing enzyme replacement therapy (ERT). This study describes FD on a systems level using a systems biology approach, in which molecular data sourced from multi-omics studies is extracted from the literature and integrated as a whole in order to reveal the biochemical processes and molecular pathways potentially affected by the dysregulation of differentially expressed molecules...
November 15, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28933368/biomarkers-and-imaging-findings-of-anderson-fabry-disease-what-we-know-now
#14
REVIEW
Idalina Beirão, Ana Cabrita, Márcia Torres, Fernando Silva, Patrício Aguiar, Francisco Laranjeira, Ana Marta Gomes
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus...
June 11, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28877708/fabry-disease-and-incidence-of-cancer
#15
Sarah Bird, Efthymios Hadjimichael, Atul Mehta, Uma Ramaswami, Derralynn Hughes
BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including globotriaosylsphingosine (Lyso-Gb3). Increased cellular and plasma levels of Gb3 and Lyso-Gb3 affect multiple organs, with specific clinical consequences for the kidneys, heart and brain. There is growing evidence that alterations in glycosphingolipids may have an oncogenic role and this prompted a review of cases of cancer and benign lesions in a large single centre cohort of Fabry patients...
September 6, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28835480/fabry-disease-characterisation-of-the-plasma-proteome-pre-and-post-enzyme-replacement-therapy
#16
Sun Hee Heo, Eungu Kang, Yoon-Myung Kim, Heounjeong Go, Kyung Yong Kim, Jae Yong Jung, Minji Kang, Gu-Hwan Kim, Jae-Min Kim, In-Hee Choi, Jin-Ho Choi, Sung-Chul Jung, Robert J Desnick, Han-Wook Yoo, Beom Hee Lee
BACKGROUND: Fabry disease is characterised by the progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in vascular endothelial cells. Enzyme replacement therapy (ERT) clears this accumulation. We analysed plasma proteome profiles before and after ERT to characterise its molecular pathology. METHODS: Two-dimensional electrophoresis and matrix-assisted laser desorption/ionisation-time of flight tandem mass spectrometry (MALDI-TOF MS) and tandem mass spectrometry (MS/MS) were done using plasma samples before and after ERT in eight patients with classical Fabry disease RESULTS: After short-term ERT (4-12 months), the levels of 15 plasma proteins involved in inflammation, oxidative and ischaemic injury, or complement activation were reduced significantly...
August 23, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28771902/detection-of-correlated-protein-backbone-and-side-chain-angle-fluctuations
#17
R Bryn Fenwick, Beat 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 H(N) -N and side-chain H(β) -C(β) dipoles in Ile, Thr, and Val in the protein GB3...
October 18, 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
#18
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
#19
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...
October 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
#20
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
keyword
keyword
7505
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"