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https://www.readbyqxmd.com/read/28933361/lysosomal-storage-disorders-and-malignancy
#1
REVIEW
Gregory M Pastores, Derralynn A Hughes
Lysosomal storage disorders (LSDs) are infrequent to rare conditions caused by mutations that lead to a disruption in the usual sequential degradation of macromolecules or their transit within the cell. Gaucher disease (GD), a lipidosis, is among the most common LSD, with an estimated incidence of 1 in 40,000 among the Caucasian, non-Jewish population. Studies have indicated an increased frequency of polyclonal and monoclonal gammopathy among patients with GD. It has been shown that two major sphingolipids that accumulate in GD, namely, β-glucosylceramide 22:0 (βGL1-22) and glucosylsphingosine (LGL1), can be recognized by a distinct subset of CD1d-restricted human and murine type II natural killer T (NKT) cells...
February 27, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28931805/identifying-therapeutic-targets-by-combining-transcriptional-data-with-ordinal-clinical-measurements
#2
Leila Pirhaji, Pamela Milani, Simona Dalin, Brook T Wassie, Denise E Dunn, Robert J Fenster, Julian Avila-Pacheco, Paul Greengard, Clary B Clish, Myriam Heiman, Donald C Lo, Ernest Fraenkel
The immense and growing repositories of transcriptional data may contain critical insights for developing new therapies. Current approaches to mining these data largely rely on binary classifications of disease vs. control, and are not able to incorporate measures of disease severity. We report an analytical approach to integrate ordinal clinical information with transcriptomics. We apply this method to public data for a large cohort of Huntington's disease patients and controls, identifying and prioritizing phenotype-associated genes...
September 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28926278/planar-optical-nano-antennas-resolve-cholesterol-dependent-nanoscale-heterogeneities-in-the-plasma-membrane-of-living-cells
#3
Raju Regmi, Pamina Martina Winkler, Valentin Flauraud, Kyra Borgman, Carlo Manzo, Juergen Brugger, Herve Rigneault, Jerome Wenger, Maria F Garcia-Parajo
Optical nano-antennas can efficiently confine light into nanoscopic hotspots enabling single-molecule detection sensitivity at biological relevant conditions. This innovative approach to breach the diffraction limit offers a versatile platform to investigate the dynamics of individual biomolecules in living cell membranes and their partitioning into cholesterol-dependent lipid nanodomains. Here, we present optical nano-antenna arrays with accessible surface hotspots to study the characteristic diffusion dynamics of phosphoethanolamine (PE) and sphingomyelin (SM) in the plasma membrane of living cells at the nanoscale...
September 19, 2017: Nano Letters
https://www.readbyqxmd.com/read/28924189/communication-via-extracellular-vesicles-enhances-viral-infection-of-a-cosmopolitan-alga
#4
Daniella Schatz, Shilo Rosenwasser, Sergey Malitsky, Sharon G Wolf, Ester Feldmesser, Assaf Vardi
Communication between microorganisms in the marine environment has immense ecological impact by mediating trophic-level interactions and thus determining community structure (1) . Extracellular vesicles (EVs) are produced by bacteria (2,3) , archaea (4) , protists (5) and metazoans, and can mediate pathogenicity (6) or act as vectors for intercellular communication. However, little is known about the involvement of EVs in microbial interactions in the marine environment (7) . Here we investigated the signalling role of EVs produced during interactions between the cosmopolitan alga Emiliania huxleyi and its specific virus (EhV, Phycodnaviridae) (8) , which leads to the demise of these large-scale oceanic blooms (9,10) ...
September 18, 2017: Nature Microbiology
https://www.readbyqxmd.com/read/28924163/large-scale-metabolomic-analysis-reveals-potential-biomarkers-for-early-stage-coronary-atherosclerosis
#5
Xueqin Gao, Chaofu Ke, Haixia Liu, Wei Liu, Kang Li, Bo Yu, Meng Sun
Coronary atherosclerosis (CAS) is the pathogenesis of coronary heart disease, which is a prevalent and chronic life-threatening disease. Initially, this disease is not always detected until a patient presents with seriously vascular occlusion. Therefore, new biomarkers for appropriate and timely diagnosis of early CAS is needed for screening to initiate therapy on time. In this study, we used an untargeted metabolomics approach to identify potential biomarkers that could enable highly sensitive and specific CAS detection...
September 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28923859/upregulation-of-cystathionine-%C3%AE-synthase-in-colonic-epithelia-reprograms-metabolism-and-promotes-carcinogenesis
#6
Ches'Nique M Phillips, John Zatarain, Michael E Nicholls, Craig Porter, Steve G Widen, Ketan Thanki, Paul Johnson, Muhammad U Jawad, Mary Pat Moyer, James W Randall, Judith L Hellmich, Manjit Maskey, Suimin Qiu, Thomas Wood, Nadiya Druzhyna, Bartosz Szczesny, Katalin Modis, Csaba Szabo, Celia Chao, Mark R Hellmich
The transsulfuration enzyme cystathionine-β-synthase (CBS) and its product hydrogen sulfide (H2S) are aberrantly upregulated in colorectal cancers, where they contribute to tumor growth and progression by both autocrine and paracrine mechanisms. However, it is unknown whether the CBS/H2S axis plays a role in colorectal carcinogenesis. Here, we report upregulation of CBS in human biopsies of precancerous adenomatous polyps and show that forced upregulation of CBS in an adenoma-like colonic epithelial cell line is sufficient to induce metabolic and gene expression profiles characteristic of colorectal cancer cells...
September 18, 2017: Cancer Research
https://www.readbyqxmd.com/read/28922162/sphingolipids-in-alzheimer-s-disease-and-related-disorders
#7
Pilar Martinez Martinez, Michelle Mielke
No abstract text is available yet for this article.
September 11, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28921920/research-highlights
#8
(no author information available yet)
In this issue, we highlight a study by Li and colleagues describing how long-chain sphingolipids maintain the asymmetrical distribution of multidrug resistance transporters between mother and daughter cells, a paper by Morley and colleagues highlighting a role for DDX3X RNA helicase in the spatial localisation of the translational machinery in migrating cells and a report by Metzen and colleagues on opposing roles of two luminal ER oxidoreductases in the regulation PERK-mediated signalling during ER stress.
September 2017: FEBS Journal
https://www.readbyqxmd.com/read/28918859/a-preliminary-study-of-bipolar-disorder-type-i-by-mass-spectrometry-based-serum-lipidomics
#9
Henrique C Ribeiro, Aline Klassen, Mariana Pedrini, Michelle S Carvalho, Lucas B Rizzo, Mariane N Noto, Maiara Zeni-Graiff, Sumit Sethi, Francisco A H Fonseca, Ljubica Tasic, Mirian A F Hayashi, Quirino Cordeiro, Elisa Brietzke, Alessandra Sussulini
The present study aimed at investigating possible alterations in the serum lipid profile of euthymic patients with bipolar disorder type I (BD) compared to healthy controls (HC). Thirty-five individuals from both genders were recruited, with 14 diagnosed and treated as BD patients (BD group) and 21 healthy subjects (HC group). Clinical assessment was based on the Structured Clinical Interview for DSM-IV Axis I Disorders (SCID-I), Young Mania Rating Scale (YMRS), and 17-items of Hamilton Depression Rating Scale (HDRS-17) data, which were used to confirm diagnosis, to verify psychiatric comorbidities, and to estimate the severity of manic and depressive symptoms...
August 21, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28915534/revealing-anti-inflammation-mechanism-of-water-extract-and-oil-of-forsythiae-fructus-on-carrageenan-induced-edema-rats-by-serum-metabolomics
#10
An Yuan, Lihong Gong, Lin Luo, Jue Dang, Xiaohong Gong, Mengjie Zhao, Yan Li, Yunxia Li, Cheng Peng
Forsythiae Fructus is an important Chinese medicine which shows a significant effect against inflammation. This study aimed to investigate the preventive anti-inflammation mechanism of Forsythiae Fructus by serum metabolomics strategy and compare the difference of the metabolism pathways between Forsythia extract and Forsythia oil in rat. Four groups (control group, model group, Forsythia extract group and Forsythia oil group) were orally administered 10mL/kg 0.5% Tween 80 solution, 10mL/kg 0.5% Tween 80 solution, 5g/kg Forsythia extract and 0...
September 11, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28906007/intergrated-metabonomic-study-of-the-effects-of-guizhi-fuling-capsule-intervention-on-primary-dysmenorrheal-using-rp-uplc-ms-complementary-with-hilic-uplc-ms-technique
#11
Lang Lang, Zhaorui Meng, Lan Sun, Wei Xiao, Longshan Zhao, Zhili Xiong
Guizhi Fuling capsule (GFC), developed from the traditional Chinese prescription of Guizhi Fuling Wan, has been commonly used for the treatment of primary dysmenorrheal (PD). However, the intervention effective mechanism in vivo has not been well elucidated. In this study, an integrated plasma metabonomic strategy based on RP-UPLC-MS coupled with HILIC-UPLC-MS technique has been developed to investigate the global therapeutic effects and intervention mechanisms of Guizhi Fuling capsule (GFC) on dysmenorrhea rats induced by oxytocin...
September 14, 2017: Biomedical Chromatography: BMC
https://www.readbyqxmd.com/read/28905694/sphingomonas-carri-sp-nov-isolated-from-a-car-air-conditioning-system
#12
Hyosun Lee, Dong-Uk Kim, Suyeon Lee, Jungpyo Yun, Sooyeon Park, Jung-Hoon Yoon, So Yoon Park, Jong-Ok Ka
A Gram-stain-negative, yellow-pigmented bacterial strain, designated PR0302T, was isolated from a car evaporator core collected in Korea. The cells were strictly aerobic, non-spore-forming and rod-shaped. The strain grew at 15-37 °C (optimum, 25 °C), at pH 6.0-8.0 (optimum, 7.0) and in the presence of 0-1 % (w/v) NaCl. Phylogenetically, the strain was closely related to members of the genus Sphingomonas(97.04-91.22 % 16S rRNA gene sequence similarities) and showed the highest sequence similarity of 97...
September 14, 2017: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/28902413/frequent-genes-in-rare-diseases-panel-based-next-generation-sequencing-to-disclose-causal-mutations-in-hereditary-neuropathies
#13
Maike F Dohrn, Nicola Glöckle, Lejla Mulahasanovic, Corina Heller, Julia Mohr, Christine Bauer, Erik Riesch, Andrea Becker, Florian Battke, Konstanze Hörtnagel, Thorsten Hornemann, Saranya Suriyanarayanan, Markus Blankenburg, Jörg B Schulz, Kristl G Claeys, Burkhard Gess, Istvan Katona, Andreas Ferbert, Debora Vittore, Alexander Grimm, Stefan Wolking, Ludger Schöls, Holger Lerche, G Christoph Korenke, Dirk Fischer, Bertold Schrank, Urania Kotzaeridou, Gerhard Kurlemann, Bianca Dräger, Anja Schirmacher, Peter Young, Beate Schlotter-Weigel, Saskia Biskup
Hereditary neuropathies comprise a wide variety of chronic diseases associated to more than 80 genes identified to date. We herein examined 612 index patients with either a Charcot-Marie-Tooth phenotype, hereditary sensory neuropathy, familial amyloid neuropathy, or small fiber neuropathy using a customized multigene panel based on the next generation sequencing (NGS) technique. In 121 cases (19.8%), we identified at least one putative pathogenic mutation. Out of these, 54.4% showed an autosomal dominant, 33...
September 13, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28900168/identification-of-key-metabolic-changes-during-liver-fibrosis-progression-in-rats-using-a-urine-and-serum-metabolomics-approach
#14
Hong Chang, Hong-Yu Meng, Shu-Min Liu, Yu Wang, Xiao-Xu Yang, Fang Lu, Hong-Yu Wang
Reversibility of hepatic fibrosis is an intrinsic response to chronic injury, and with on-going damage, fibrosis can progress to its end-stage consequence, cirrhosis. Non-invasive and reliable biomarkers for early detection of liver fibrosis are needed. Based on the CCl4-induced liver fibrosis rat model, urinary and serum metabolic profiling performed by LC-QTOF-MS associated with histological progression were utilized to identify liver fibrosis-specific potential biomarkers for early prediction and to reveal significant fibrotic pathways and their dynamic changes in different stages of liver fibrosis...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28895519/parapedobacter-lycopersici-sp-nov-isolated-from-the-rhizosphere-soil-of-tomato-plants-solanum-lycopersicum-l
#15
Jeong Myeong Kim, Shin Ae Lee, Hayoung Cho, Soo-Jin Kim, Jae-Ho Joa, Soon-Wo Kwon, Hang-Yeon Weon
A novel Gram-stain-negative bacterial strain, designated T16R-256T, was isolated from the rhizosphere soil of tomato plants grown in a greenhouse in Yecheon-gun, Gyeongsangbuk-do, Republic of Korea and characterized using polyphasic taxonomy. Cells were aerobic, non-flagellated and rod-shaped. Colonies were light yellow, convex and round. The strain grew in the temperature range of 15-37 °C (optimally at 28-30 °C) and pH range of 7.0-9.0 (optimally at 7.0-8.0) and in 4 % NaCl (w/v). A comparison of 16S rRNA gene sequences showed that strain T16R-256T is a member of the genus Parapedobacter, exhibiting high sequence similarity with Parapedobacter pyrenivorans P-4T (94...
September 12, 2017: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/28890699/sphingosine-1-phosphate-signaling-as-a-target-in-hepatic-fibrosis-therapy
#16
REVIEW
Bárbara González-Fernández, Diana I Sánchez, Javier González-Gallego, María J Tuñón
Liver fibrosis is an excess production of extracellular matrix proteins as a result of chronic liver disease which leads to cell death and organ dysfunction. The key cells involved in fibrogenesis are resident hepatic stellate cells (HSCs) which are termed myofibroblasts after activation, acquiring contractile, proliferative, migratory and secretory capability. Sphingosine 1-phosphate (S1P) is a bioactive sphingolipid with well-established effects on angiogenesis, carcinogenesis and immunity. Accumulating evidence demonstrates that this metabolite is involved in the profibrotic inflammatory process through the regulation of pleiotropic cell responses, such as vascular permeability, leukocyte infiltration, cell survival, migration, proliferation and HSCs differentiation to myofibroblasts...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28890071/serum-lipid-alterations-in-gba-associated-parkinson-s-disease
#17
Leonor Correia Guedes, Robin Barry Chan, Marcos António Gomes, Vasco A Conceição, Raquel Bouça Machado, Tiago Soares, Yimeng Xu, Paulo Gaspar, Joao André Carriço, Roy N Alcalay, Joaquim J Ferreira, Tiago Fleming Outeiro, Gabriel Miltenberger-Miltenyi
INTRODUCTION: Mutations in the GBA gene, encoding for the lysosomal enzyme glucocerebrosidase, are associated with Gaucher disease. Alterations in plasma sphingolipids have been reported in Gaucher, and similarly in brain extracts in Lewy body disease. As GBA mutations are prevalent risk factors for Parkinson's disease and overlap of molecular pathways are presumable, here we assessed the lipid profiles in Parkinson's patients with and without GBA mutations. METHODS: We sequenced all GBA exons in 415 Parkinson's patients, previously genotyped for LRRK2...
September 1, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28889482/tlr-induced-smpd3-defects-enhance-inflammatory-response-of-b-cell-and-macrophage-in-the-pathogenesis-of-sle
#18
Fei Liu, Xiaojing Li, Huimin Yue, Jianjian Ji, Ming You, Liang Ding, Hongye Fan, Yayi Hou
B lymphocyte and macrophages may contribute to SLE pathogenesis through cytokine production after TLR stimulation. Emerging evidences suggested that defects of sphingolipid metabolism was responsible for SLE pathogenesis. However, it is not clear whether these defects exist in B cells and macrophages under SLE condition and whether TLR signaling pathway was related to the dysfunction of sphingolipid metabolism in SLE. Here we demonstrated that the enzymes involved in the sphingolipid metabolism expressed abnormally in B cells from SLE patients and lupus-prone mice...
September 10, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28888701/direct-mass-spectrometry-differentiation-of-ectopic-and-eutopic-endometrium-in-patients-with-endometriosis
#19
Leila Adamyan, Natalia Starodubtseva, Anna Borisova, Assia Stepanian, Vitaliy Chagovets, Dinara Salimova, Zhihao Wang, Alexey Kononikhin, Igor Popov, Anna Bugrova, Konstantin Chingin, Andrey Kozachenko, Huanwen Chen, Vladimir Frankevich
STUDY OBJECTIVE: To introduce a method for rapid assessment of endometriotic tissues using direct mass spectrometry (MS)-based lipidomics. DESIGN: Prospective observational cohort study. DESIGN CLASSIFICATION: II 2. SETTING: Department of Operative Gynecology of the Research Centre for Obstetrics, Gynecology and Perinatology. PATIENTS: Fifty patients with ovarian cysts and peritoneal endometriosis who underwent laparoscopic surgery between 2014 and 2016...
September 6, 2017: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/28886580/a-plasma-metabonomic-analysis-on-potential-biomarker-in-pyrexia-induced-by-three-methods-using-ultra-high-performance-liquid-chromatography-coupled-with-fourier-transform-ion-cyclotron-resonance-mass-spectrometry
#20
Ting Liu, Songhe Li, Xiumin Tian, Zhaoqin Li, Yue Cui, Fei Han, Yunli Zhao, Zhiguo Yu
Pyrexia usually is a systemic pathological process that can lead to metabolic disorders. Metabonomics as a powerful tool not only can reveal the pathological mechanisms, but also can give insight into the progression of pyrexia from another angle. Thus, an ultra high performance liquid chromatography combined with Fourier transform ion cyclotron resonance mass spectrometry (UHPLC-FT-ICR-MS) metabonomic approach was employed for the first time to investigate the plasma biochemical characteristics of pyrexia induced by three methods and to reveal subtle metabolic changes under the condition of pyrexia so as to explore its mechanism...
August 24, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
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