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https://www.readbyqxmd.com/read/29160035/mosaic-uniparental-disomy-results-in-gm1-gangliosidosis-with-normal-enzyme-assay
#1
Kenneth A Myers, Mark F Bennett, Chung W Chow, Susan M Carden, Simone A Mandelstam, Melanie Bahlo, Ingrid E Scheffer
Inherited metabolic disorders are traditionally diagnosed using broad and expensive panels of screening tests, often including invasive skin and muscle biopsy. Proponents of next-generation genetic sequencing have argued that replacing these screening panels with whole exome sequencing (WES) would save money. Here, we present a complex patient in whom WES allowed diagnosis of GM1 gangliosidosis, caused by homozygous GLB1 mutations, resulting in β-galactosidase deficiency. A 10-year-old girl had progressive neurologic deterioration, macular cherry-red spot, and cornea verticillata...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29148800/size-and-shape-of-amyloid-fibrils-induced-by-ganglioside-nanoclusters-role-of-sialyl-oligosaccharide-in-fibril-formation
#2
Teruhiko Matsubara, Masaya Nishihara, Hanaki Yasumori, Mako Nakai, Katsuhiko Yanagisawa, Toshinori Sato
Ganglioside-enriched microdomains in the presynaptic neuronal membrane play a key role in the initiation of amyloid ß-protein (Aß) assembly related to Alzheimer's disease. We previously isolated lipids from a detergent-resistant membrane microdomain fraction of synaptosomes prepared from aged mouse brain and found that spherical Aß assemblies were formed on Aß-sensitive ganglioside nanoclusters (ASIGN) of reconstituted lipid bilayers in the synaptosomal fraction. In the present study, we investigated the role of oligosaccharides in Aß fibril formation induced by ganglioside-containing mixed lipid membranes that mimic the features of ASIGN...
November 17, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/29136715/-analysis-of-the-clinical-and-electrophysiological-characteristics-of-multifocal-motor-neuropathy
#3
H F Wang, F Yang, F Cui, Z H Chen, L Ling, X S Huang
Ten patients diagnosed with multifocal motor neuropathy (MMN) were recruited in the Department of Neurology at Chinese PLA General Hospital from January 1, 2009 to August 31, 2015. The clinical and electrophysiological features were analyzed retrospectively. All patients complained of progressive asymmetric limb weakness, which was more severe in distal than in proximal. Five presented muscle atrophy. None had sensory disturbances. All suffered diminished or disappeared tendon reflex, whereas Babinski signs were negative...
November 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29126773/clomipramine-counteracts-lipid-raft-disturbance-due-to-short-term-muscle-disuse
#4
Irina G Bryndina, Maria N Shalagina, Alexey V Sekunov, Andrei L Zefirov, Alexey M Petrov
Disuse-induced skeletal muscle dysfunction is a serious consequence of long-term spaceflight, numerous diseases and conditions for which treatment possibilities are still strictly limited. We have previously shown that acute hindlimb suspension (HS)-mediated disuse disrupts membrane lipid rafts in the unloaded muscle. Here, we investigated whether pretreatment of rats with the inhibitor of acid sphingomyelinase, clomipramine (1.25mg/g/day, intramuscularly, for 5days before HS), is able to hinder the loss in lipid raft integrity in response to 12h of HS...
November 7, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29119347/n-glycan-structures-and-downstream-mannose-phosphorylation-of-plant-recombinant-human-alpha-l-iduronidase-toward-development-of-enzyme-replacement-therapy-for-mucopolysaccharidosis-i
#5
Owen M Pierce, Grant R McNair, Xu He, Hiroyuki Kajiura, Kazuhito Fujiyama, Allison R Kermode
Arabidopsis N-glycan processing mutants provide the basis for tailoring recombinant enzymes for use as replacement therapeutics to treat lysosomal storage diseases, including N-glycan mannose phosphorylation to ensure lysosomal trafficking and efficacy. Functional recombinant human alpha-L-iduronidase (IDUA; EC 3.2.1.76) enzymes were generated in seeds of the Arabidopsis thaliana complex-glycan-deficient (cgl) C5 background, which is deficient in the activity of N-acetylglucosaminyl transferase I, and in seeds of the Arabidopsis gm1 mutant, which lacks Golgi α-mannosidase I (GM1) activity...
November 8, 2017: Plant Molecular Biology
https://www.readbyqxmd.com/read/29112834/natural-killer-cells-play-an-essential-role-in-resolution-of-antigen-induced-inflammation-in-mice
#6
Osk U U Anuforo, Stefania P Bjarnarson, Hulda S Jonasdottir, Martin Giera, Ingibjorg Hardardottir, Jona Freysdottir
This study examined whether NK cells are important for resolution of antigen-induced inflammation. C57BL/6 mice were immunized twice with methylated BSA (mBSA) and inflammation induced by intraperitoneal injection of mBSA. Mice were injected intravenously with anti-asialo GM1 (αASGM1) or a control antibody 24h prior to peritonitis induction and peritoneal exudate collected at different time points. Expression of surface molecules and apoptosis on peritoneal cells was determined by flow cytometry and concentration of chemokines, cytokines, soluble cytokine receptors and lipid mediators by ELISA and LC-MS/MS...
November 4, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/29111890/polyethylene-glycol-b-poly-lactic-acid-polymersomes-as-vehicles-for-enzyme-replacement-therapy
#7
Jessica M Kelly, Amanda L Gross, Douglas R Martin, Mark E Byrne
AIM: Polymersomes are created to deliver an enzyme-based therapy to the brain in lysosomal storage disease patients. MATERIALS & METHODS: Polymersomes are formed via the injection method using poly(ethylene glycol)-b-poly(lactic acid) (PEGPLA) and bound to apolipoprotein E, to create a brain-targeted delivery vehicle. RESULTS: Polymersomes have a smallest average diameter of 145 ± 21 nm and encapsulate β-galactosidase at 72.0 ± 12...
November 7, 2017: Nanomedicine
https://www.readbyqxmd.com/read/29106974/direct-visualization-of-the-lateral-structure-of-giant-vesicles-composed-of-pseudo-binary-mixtures-of-sulfatide-asialo-gm1-and-gm1-with-popc
#8
Pablo M Rodi, Bruno Maggio, Luis A Bagatolli
We compared the lateral structure of giant unilamellar vesicles (GUVs) composed of three pseudo binary mixtures of different glycosphingolipid (GSL), i.e. sulfatide, asialo-GM1 or GM1, with POPC. These sphingolipids possess similar hydrophobic residues but differ in the size and charge of their polar head group. Fluorescence microscopy experiments using LAURDAN and DiIC18 show coexistence of micron sized domains in a molar fraction range that depends on the nature of the GSLs. In all cases, experiments with LAURDAN show that the membrane lateral structure resembles the coexistence of solid ordered and liquid disordered phases...
October 26, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29106782/expression-and-assembly-of-largest-foreign-protein-in-chloroplasts-oral-delivery-of-human-fviii-made-in-lettuce-chloroplasts-robustly-suppresses-inhibitor-formation-in-hemophilia-a-mice
#9
Kwang-Chul Kwon, Alexandra Sherman, Wan-Jung Chang, Aditya Kamesh, Moanaro Biswas, Roland W Herzog, Henry Daniell
Inhibitor formation is a serious complication of factor VIII (FVIII) replacement therapy for the X-linked bleeding disorder hemophilia A and occurs in 20-30% of patients. No prophylactic tolerance protocol currently exists. Although we reported oral tolerance induction using FVIII domains expressed in tobacco chloroplasts, significant challenges in clinical advancement include expression of the full-length CTB-FVIII sequence to cover the entire patient population, regardless of individual CD4(+) T cell epitope responses...
November 6, 2017: Plant Biotechnology Journal
https://www.readbyqxmd.com/read/29106755/canine-gm2-gangliosidosis-sandhoff-disease-associated-with-a-3-base-pair-deletion-in-the-hexb-gene
#10
P Wang, P S Henthorn, E Galban, G Lin, T Takedai, M Casal
BACKGROUND: GM2-gangliosidosis is a fatal neurodegenerative lysosomal storage disease (LSD) caused by deficiency of either β-hexosaminidase A (Hex-A) and β-hexosaminidase B (Hex-B) together, or the GM2 activator protein. Clinical signs can be variable and are not pathognomonic for the specific, causal deficiency. OBJECTIVES: To characterize the phenotype and genotype of GM2-gangliosidosis disease in an affected dog. ANIMALS: One affected Shiba Inu and a clinically healthy dog...
November 6, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/29102779/sialic-acid-and-anti-ganglioside-antibody-levels-in-children-with-autism-spectrum-disorders
#11
Xiaolei Yang, Shuang Liang, Lin Wang, Panpan Han, Xitao Jiang, Jianli Wang, Yanqiu Hao, Lijie Wu
BACKGROUND: Autism spectrum disorders (ASD) may result from a combination of genetic and environmental factors, and impact neurological functions and behaviors. Sialic acid (SA) is an indispensable nutrient for early brain development, and its polymer polySia (PSA) can modify neural cell adhesion molecules (NCAM), thereby indirectly mediating neuronal outgrowth, synaptic connectivity and memory formation. To investigate the association between SA and ASD, we conducted a case-control study...
November 1, 2017: Brain Research
https://www.readbyqxmd.com/read/29095853/characterization-of-the-functions-and-proteomes-associated-with-membrane-rafts-in-chicken-sperm
#12
Ai Ushiyama, Atsushi Tajima, Naoto Ishikawa, Atsushi Asano
Cellular membranes are heterogeneous, and this has a great impact on cellular function. Despite the central role of membrane functions in multiple cellular processes in sperm, their molecular mechanisms are poorly understood. Membrane rafts are specific membrane domains enriched in cholesterol, ganglioside GM1, and functional proteins, and they are involved in the regulation of a variety of cellular functions. Studies of the functional characterization of membrane rafts in mammalian sperm have demonstrated roles in sperm-egg binding and the acrosomal reaction...
2017: PloS One
https://www.readbyqxmd.com/read/29091757/infectious-entry-and-neutralization-of-pathogenic-jc-polyomaviruses
#13
Eileen M Geoghegan, Diana V Pastrana, Rachel M Schowalter, Upasana Ray, Wei Gao, Mitchell Ho, Gary T Pauly, Dina M Sigano, Campbell Kaynor, Ellen Cahir-McFarland, Benoit Combaluzier, Jan Grimm, Christopher B Buck
Progressive multifocal leukoencephalopathy (PML) is a lethal brain disease caused by uncontrolled replication of JC polyomavirus (JCV). JCV strains recovered from the brains of PML patients carry mutations that prevent the engagement of sialylated glycans, which are thought to serve as receptors for the infectious entry of wild-type JCV. In this report, we show that non-sialylated glycosaminoglycans (GAGs) can serve as alternative attachment receptors for the infectious entry of both wild-type and PML mutant JCV strains...
October 31, 2017: Cell Reports
https://www.readbyqxmd.com/read/29046274/genetic-depletion-or-hyperresponsiveness-of-natural-killer-cells-do-not-affect-atherosclerosis-development
#14
Wared Nour-Eldine, Jeremie Joffre, Kazem Zibara, Andreas Giraud, Bruno Esposito, Lynda Zeboudj, José Vilar, Megumi Terada, Patrick Bruneval, Eric Vivier, Hafid Ait-Oufella, Ziad Mallat, Sophie Ugolini, Alain Tedgui
Rationale: Chronic inflammation is central in the development of atherosclerosis. Both innate and adaptive immunity are involved. Although several studies have evaluated the functions of NK cells in experimental animal models of atherosclerosis, it is not yet clear whether NK cells behave as protective or pro-atherogenic effectors. One of the main caveats of previous studies was the lack of specificity in targeting loss- or gain-of-function of NK cells. Objective: We used two selective genetic approaches to investigate the role of NK cells in atherosclerosis: 1) Ncr1i(Cre/+)R26(lsl-DTA/+) mice in which NK cells were depleted, 2) Noé mice in which NK cells are hyperresponsive...
October 18, 2017: Circulation Research
https://www.readbyqxmd.com/read/29042488/natural-killer-cells-mediate-pathophysiology-in-response-to-reduced-uterine-perfusion-pressure
#15
Jamil Elfarra, Lorena M Amaral, Maggie McCalmon, Jeremy D Scott, Mark W Cunningham, Ashley Gnam, Tarek Ibrahim, Babbette LaMarca, Denise C Cornelius
Preeclampsia is associated with hypertension, small-for-gestational-age babies and increased cytolytic natural killer (NK) cells. The specific role of cytolytic NK cells in the pathophysiology of preeclampsia has not been clearly defined. We hypothesized that Reduced Uterine Perfusion Pressure (RUPP) stimulates proliferation and cytolytic activation of NK cells, and that reducing NK cells in RUPP would prevent hypertension, intrauterine growth restriction, and inflammation in response to placental ischemia...
October 17, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28993428/disease-modifying-effects-of-ganglioside-gm1-in-huntington-s-disease-models
#16
Melanie Alpaugh, Danny Galleguillos, Juan Forero, Luis Carlos Morales, Sebastian W Lackey, Preeti Kar, Alba Di Pardo, Andrew Holt, Bradley J Kerr, Kathryn G Todd, Glen B Baker, Karim Fouad, Simonetta Sipione
Huntington's disease (HD) is a progressive neurodegenerative disorder characterized by motor, cognitive and psychiatric problems. Previous studies indicated that levels of brain gangliosides are lower than normal in HD models and that administration of exogenous ganglioside GM1 corrects motor dysfunction in the YAC128 mouse model of HD In this study, we provide evidence that intraventricular administration of GM1 has profound disease-modifying effects across HD mouse models with different genetic background...
November 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28955978/monosialoganglioside-gm1-triggers-binding-of-the-amyloid-protein-salmon-calcitonin-to-a-langmuir-membrane-model-mimicking-the-occurrence-of-lipid-rafts
#17
Marco Diociaiuti, Cristiano Giordani, Gihan S Kamel, Francesco Brasili, Simona Sennato, Cecilia Bombelli, Karen Y Meneses, Marco A Giraldo, Federico Bordi
GM1 ganglioside is known to be involved in the amyloid-associated diseases and it is a crucial factor for the assembly of amyloid proteins on lipid-rafts, which are lipid structures located on the synaptic plasma membranes. Due to its slow aggregation rate, we employed salmon calcitonin (sCT) as a suitable probe representative of amyloid proteins, to study the interaction between this class of proteins and a membrane model. Here, we prepared a neuronal membrane model by depositing onto mica two Langmuir-Blodgett films in liquid-condensed phase: the outer monolayer was characterized by high content of GM1 (50%) and minority parts of cholesterol and POPC (25-25%), while the inner one by plain POPC...
December 2016: Biochemistry and Biophysics Reports
https://www.readbyqxmd.com/read/28955740/characterization-of-lipid-rafts-in-human-platelets-using-nuclear-magnetic-resonance-a-pilot-study
#18
Joshua F Ceñido, Boris Itin, Ruth E Stark, Yung-Yu Huang, Maria A Oquendo, J John Mann, M Elizabeth Sublette
Lipid microdomains ('lipid rafts') are plasma membrane subregions, enriched in cholesterol and glycosphingolipids, which participate dynamically in cell signaling and molecular trafficking operations. One strategy for the study of the physicochemical properties of lipid rafts in model membrane systems has been the use of nuclear magnetic resonance (NMR), but until now this spectroscopic method has not been considered a clinically relevant tool. We performed a proof-of-concept study to test the feasibility of using NMR to study lipid rafts in human tissues...
July 2017: Biochemistry and Biophysics Reports
https://www.readbyqxmd.com/read/28948579/effect-of-lactobacillus-rhamnosus-ncdc-298-with-fos-in-combination-on-viability-and-toxin-production-of-enterotoxigenic-escherichia-coli
#19
Santosh Anand, Surajit Mandal, Sudhir Kumar Tomar
The present study was to investigate the utilization of prebiotics by Lactobacillus rhamnosus NCDC 298 and its synergistic adversary effect on both population and production of heat-labile (LT) toxin in enterotoxigenic Escherichia coli (ETEC). To select suitable prebiotic in order to enhance functionality, its utilization and the prebiotic activity score was examined. Antivirulence effect on ETEC was inspected by its inactivation rate and heat-labile toxin production in presence of different synbiotic combination...
September 25, 2017: Probiotics and Antimicrobial Proteins
https://www.readbyqxmd.com/read/28946063/hetero-multivalent-binding-of-cholera-toxin-subunit-b-with-glycolipid-mixtures
#20
Pratik Krishnan, Akshi Singla, Chin-An Lee, Joshua D Weatherston, Nolan C Worstell, Hung-Jen Wu
GM1 has generally been considered as the major receptor that binds to cholera toxin subunit B (CTB) due to its low dissociation constant. However, using a unique nanocube sensor technology, we have shown that CTB can also bind to other glycolipid receptors, fucosyl-GM1 and GD1b. Additionally, we have demonstrated that GM2 can contribute to CTB binding if present in a glycolipid mixture with a strongly binding receptor (GM1/fucosyl-GM1/GD1b). This hetero-multivalent binding result was unintuitive because the interaction between CTB and pure GM2 is negligible...
September 14, 2017: Colloids and Surfaces. B, Biointerfaces
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