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https://www.readbyqxmd.com/read/28210640/muscle-weakness-a-misleading-presentation-in-children-with-distinctive-syndromic-entities-clinical-case-reports
#1
Ali Al Kaissi, Sergey Ryabykh, Polina Ochirova, Vladimir Kenis, Jochen G Hofstätter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
Marked ligamentous hyperlaxity and muscle weakness/wasting associated with awkward gait are the main deficits confused with the diagnosis of myopathy. Seven children (6 boys and 1 girl with an average age of 8 years) were referred to our department because of diverse forms of skeletal abnormalities. No definitive diagnosis was made, and all underwent a series of sophisticated investigations in other institutes in favor of myopathy. We applied our methodology through the clinical and radiographic phenotypes followed by targeted genotypic confirmation...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28207863/identification-of-age-dependent-motor-and-neuropsychological-behavioural-abnormalities-in-a-mouse-model-of-mucopolysaccharidosis-type-ii
#2
Hélène F E Gleitz, Claire O'Leary, Rebecca J Holley, Brian W Bigger
Severe mucopolysaccharidosis type II (MPS II) is a progressive lysosomal storage disease caused by mutations in the IDS gene, leading to a deficiency in the iduronate-2-sulfatase enzyme that is involved in heparan sulphate and dermatan sulphate catabolism. In constitutive form, MPS II is a multi-system disease characterised by progressive neurocognitive decline, severe skeletal abnormalities and hepatosplenomegaly. Although enzyme replacement therapy has been approved for treatment of peripheral organs, no therapy effectively treats the cognitive symptoms of the disease and novel therapies are in development to remediate this...
2017: PloS One
https://www.readbyqxmd.com/read/28193024/evaluating-tumor-associated-activity-of-extracellular-sulfatase-by-analyzing-naturally-occurring-substrate-in-tumor-microenvironment-of-hepatocellular-carcinoma
#3
Yue Yu, Hao Li, Yucai Yang, Yitao Ding, Zhaoxia Wang, Genxi Li
The progress of cancer is intimately connected with the activity of the extracellular matrix (ECM) enzymes. To evaluate the promoting effect of these enzymes on tumor development in a pathological biocontext, we propose in this work to analyze their natural substrates in the ECM. This strategy is demonstrated by studying heparan sulfate (HS), the substrate of ECM sulfatase, in the development of hepatocellular carcinoma (HCC). An assay is designed to study the abundance and sulfation of HS and to evaluate the interactions between HS and the growth factors, such as fibroblast growth factor 2 (FGF2)...
December 20, 2016: Analytical Chemistry
https://www.readbyqxmd.com/read/28186595/-analysis-of-ids-gene-mutation-in-a-family-affected-with-mucopolysaccharidosis-type%C3%A2
#4
Yiying Li, Shiyue Mei, Xiangdong Kong, Zhenhua Zhao, Xiaofan Zhu, Xinyu Yang, Zhi Qin, Han Wu
OBJECTIVE: To detect potential mutation of iduronate-2-sulfatase (IDS) gene in a family affected with mucopolysaccharidosis type Ⅱ (MPS Ⅱ). METHODS: For the proband and his unaffected mother, the whole coding sequence of the IDS gene was analyzed with PCR and bidirectional Sanger sequencing. RESULTS: A novel splicing mutation, c.709-1G>A, was detected in the proband, for which his mother was heterozygous. CONCLUSION: The c...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28181906/activity-of-urine-arylsulfatase-a-in-brain%C3%A2-dead-graft-donors-is-a-predictor-of-early-and-late-graft-function
#5
Ewa Kwiatkowska, Leszek Domanski, Joanna Bober, Krzysztof Safranow, Andrzej Pawlik, Kazimierz Ciechanowski
OBJECTIVE: Human lysosomal arylsulfatase A (ASA) is a member of the sulfatase family. Arylsulfatase A is required to degrade sulfatides. Sulfatides occur in the myelin sheets of the central and peripheral nervous system. In this study we evaluated the urine activity of lysosomal enzyme arylsulfatase A in brain‑dead donors as a marker and predictor of short - and long‑term renal allograft function. PATIENTS/METHODS: We analyzed data from kidney recipients who received organs from brain‑dead donors...
January 4, 2017: Postȩpy Higieny i Medycyny Doświadczalnej
https://www.readbyqxmd.com/read/28170435/preventive-effect-of-dietary-astaxanthin-on-uva-induced-skin-photoaging-in-hairless-mice
#6
Toshiyuki Komatsu, Suguru Sasaki, Yuki Manabe, Takashi Hirata, Tatsuya Sugawara
Astaxanthin, a carotenoid found mainly in seafood, has potential clinical applications due to its antioxidant activity. In this study, we evaluated the effect of dietary astaxanthin derived from Haematococcus pluvialis on skin photoaging in UVA-irradiated hairless mice by assessing various parameters of photoaging. After chronic ultraviolet A (UVA) exposure, a significant increase in transepidermal water loss (TEWL) and wrinkle formation in the dorsal skin caused by UVA was observed, and dietary astaxanthin significantly suppressed these photoaging features...
2017: PloS One
https://www.readbyqxmd.com/read/28153673/quantitative-analysis-of-menthol-in-human-urine-using-solid-phase-microextraction-and-stable-isotope-dilution-gas-chromatography-mass-spectrometry
#7
Wenlin Huang, Benjamin C Blount, Clifford H Watson, Christina Watson, David M Chambers
To accurately measure menthol levels in human urine, we developed a method using gas chromatography/electron ionization mass spectrometry with menthol-d4 stable isotope internal standardization. We used solid phase microextraction (SPME) headspace sampling for collection, preconcentration and automation. Conjugated forms of menthol were released using β-glucuronidase/sulfatase to allow for measuring total menthol. Additionally, we processed the specimens without using β-glucuronidase/sulfatase to quantify the levels of unconjugated (free) menthol in urine...
December 13, 2016: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28152429/synthesis-and-biological-evaluation-of-fluorinated-n-benzoyl-and-n-phenylacetoyl-derivatives-of-3-4-aminophenyl-coumarin-7-o-sulfamate-as-steroid-sulfatase-inhibitors
#8
Mateusz Daśko, Maja Przybyłowska, Janusz Rachon, Maciej Masłyk, Konrad Kubiński, Majus Misiak, Andrzej Składanowski, Sebastian Demkowicz
In the present work, we report convenient methods for the synthesis of 3-(4-aminophenyl)-coumarin-7-O-sulfamate derivatives N-acylated with fluorinated analogues of benzoic or phenylacetic acid as steroid sulfatase (STS) inhibitors. The design of these potential STS inhibitors was supported by molecular modeling techniques. Additionally, computational docking methods were used to determine the binding modes of the synthesized inhibitors and to identify potential interactions between inhibitors and amino acid residues located in the active site of STS...
January 22, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28137280/high-dimensional-assessment-of-b-cell-responses-to-quadrivalent-meningococcal-conjugate-and-plain-polysaccharide-vaccine
#9
Daniel O'Connor, Elizabeth A Clutterbuck, Amber J Thompson, Matthew D Snape, Maheshi N Ramasamy, Dominic F Kelly, Andrew J Pollard
BACKGROUND: Neisseria meningitidis is a globally important cause of meningitis and septicaemia. Twelve capsular groups of meningococci are known, and quadrivalent vaccines against four of these (A, C, W and Y) are available as plain-polysaccharide and protein-polysaccharide conjugate vaccines. Here we apply contemporary methods to describe B-cell responses to meningococcal polysaccharide and conjugate vaccines. METHODS: Twenty adults were randomly assigned to receive either a meningococcal plain-polysaccharide or conjugate vaccine; one month later all received the conjugate vaccine...
January 30, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28101780/update-of-the-spectrum-of-mucopolysaccharidoses-type-iii-in-tunisia-identification-of-three-novel-mutations-and-in-silico-structural-analysis-of-the-missense-mutations
#10
Souad Ouesleti, Maria Francisca Coutinho, Isaura Ribeiro, Abdehedi Miled, Dalila Saidane Mosbahi, Sandra Alves
BACKGROUND: Mucopolysaccharidoses type III (MPS III) are a group of autosomal recessive lysosomal storage diseases, caused by mutations in genes that code for enzymes involved in the lysosomal degradation of heparan sulphate: heparan sulfate sulfamidase (SGSH), α-N-acetylglucosaminidase (NAGLU), heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT), and N-acetylglucosamine-6-sulfatase (GNS). METHODS: In this study, we have performed the molecular analysis of the SGSH, NAGLU and HGSNAT genes in 10 patients from 6 different MPS III Tunisian families...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28087803/epiphytic-planctomycetes-communities-associated-with-three-main-groups-of-macroalgae
#11
Joana Bondoso, Filipa Godoy-Vitorino, Vanessa Balagué, Josep M Gasol, Jens Harder, Olga Maria Lage
Planctomycetes, a unique group of widespread and understudied bacteria, are known to be associated with macroalgae. The temporal dynamics and the host-specific association of planctomycetal communities on Fucus spiralis, Ulva sp. and Chondrus crispus from two locations in the North Coast of Portugal were assessed both by denaturing gradient gel electrophoresis (DGGE) with group-specific primers and 16S rDNA amplicon libraries. The epiphytic planctomycetal communities showed a significant association with the host macroalgal species independently of the geographical location and the season...
January 12, 2017: FEMS Microbiology Ecology
https://www.readbyqxmd.com/read/28077157/clinical-biochemical-and-molecular-characteristics-of-filipino-patients-with-mucopolysaccharidosis-type-ii-hunter-syndrome
#12
Mary Anne D Chiong, Daffodil M Canson, Mary Ann R Abacan, Melissa Mae P Baluyot, Cynthia P Cordero, Catherine Lynn T Silao
BACKGROUND: Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have Hunter syndrome. The clinical and biochemical characteristics were obtained and mutation testing of the IDS gene was done on the probands and their female relatives. RESULTS: The mean age of the patients was 11.28 (SD 4.10) years with an average symptom onset at 1...
January 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28071803/effects-of-catechol-o-methyl-transferase-inhibition-on-anti-inflammatory-activity-of-luteolin-metabolites
#13
Sang Keun Ha, Jin-Ah Lee, Eun Jung Cho, Inwook Choi
Although luteolin is known to have potent anti-inflammatory activities, much less information has been provided on such activities of its hepatic metabolites. Luteolin was subjected to hepatic metabolism in HepG2 cells either without or with catechol O-methyl transferase (COMT) inhibitor. To identify hepatic metabolites of luteolin without (luteolin metabolites, LMs) or with COMT inhibitor (LMs+CI), metabolites were treated by β-glucuronidase and sulfatase, and found that they were composed of glucuronide and sulfate conjugates of diosmetin in LMs or these conjugates of luteolin in LMs+CI...
January 10, 2017: Journal of Food Science
https://www.readbyqxmd.com/read/28063738/genetics-and-pathophysiology-of-mammalian-sulfate-biology
#14
REVIEW
Rachel Langford, Elizabeth Hurrion, Paul A Dawson
Nutrient sulfate is essential for numerous physiological functions in mammalian growth and development. Accordingly, disruptions to any of the molecular processes that maintain the required biological ratio of sulfonated and unconjugated substrates are likely to have detrimental consequences for mammalian physiology. Molecular processes of sulfate biology can be broadly grouped into four categories: firstly, intracellular sulfate levels are maintained by intermediary metabolism and sulfate transporters that mediate the transfer of sulfate across the plasma membrane; secondly, sulfate is converted to 3'-phosphoadenosine 5'-phosphosulfate (PAPS), which is the universal sulfonate donor for all sulfonation reactions; thirdly, sulfotransferases mediate the intracellular sulfonation of endogenous and exogenous substrates; fourthly, sulfate is removed from substrates via sulfatases...
January 20, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28057171/predicting-high-impact-pharmacological-targets-by-integrating-transcriptome-and-text-mining-features
#15
Anatoly Mayburd, Ancha Baranova
PURPOSE: Novel, "outside of the box" approaches are needed for evaluating candidate molecules, especially in oncology. Throughout the years of 2000-2010, the efficiency of drug development fell to barely acceptable levels, and in the second decade of this century, levels have improved only marginally. This dismal condition continues despite unprecedented progress in the development of a variety of high-throughput tools, computational methods, aggregated databases, drug repurposing programs and innovative chemistries...
October 2016: Journal of Pharmacy & Pharmaceutical Sciences: a Publication of the Canadian Society for Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28055182/arylsulfatase-k-is-the-lysosomal-2-sulfoglucuronate-sulfatase
#16
Omkar P Dhamale, Roger Lawrence, Elena M Wiegmann, Bhahwal A Shah, Kanar Al-Mafraji, William C Lamanna, Torben Lübke, Thomas Dierks, Geert-Jan Boons, Jeffrey D Esko
The degradation of glycosaminoglycans (GAGs) involves a series of exolytic glycosidases and sulfatases that act sequentially on the nonreducing end of the polysaccharide chain. Enzymes have been cloned that catalyze all of the known linkages with the exception of the removal of the 2-O-sulfate group from 2-sulfoglucuronate, which is found in heparan sulfate and dermatan sulfate. Here, we show using synthetic disaccharide substrates that arylsulfatase K is the glucuronate-2-sulfatase. Arylsulfatase K acts selectively on 2-sulfoglucuronate and lacks activity against 2-sulfoiduronate, whereas iduronate-2-sulfatase (IDS) desulfates synthetic disaccharides containing 2-sulfoiduronate but not 2-sulfoglucuronate...
January 17, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28011272/resolution-of-hydronephrosis-in-a-patient-with-mucopolysaccharidosis-type-ii-with-enzyme-replacement-therapy
#17
Kei Nishiyama, Takashi Imai, Kazuhiro Ohkubo, Masafumi Sanefuji, Hidetoshi Takada
Mucopolysaccharidosis type II (MPS II) is caused by deficiency of lysosomal enzyme iduronate-2-sulfatase. Insufficient activity of the enzyme results in accumulation of glycosaminoglycans leading to progressive multisystem pathologies. MPS II is less likely to be complicated by kidney and urinary tract problems. We report a boy with MPS II, who developed left hydronephrosis. His hydronephrosis improved after starting enzyme replacement therapy (ERT). It was suggested mucopolysaccharidosis type II was closely associated with the pathogenesis of hydronephrosis...
December 20, 2016: Urology
https://www.readbyqxmd.com/read/27986197/cost-effectiveness-of-the-quantification-of-enzymatic-activity-in-leukocytes-in-comparison-to-its-nonrealization-for-a-rare-disease-in-latin-america-the-case-of-mucopolysaccharidosis-type-ii-in-colombia
#18
Elizabeth Parody, Cesar A Guevara, Andrés Aguirre, Paula M Tello
BACKGROUND: Mucopolysaccharidosis (MPS) type II is produced by a deficiency of iduronate-2-sulfatase (I2S). The quantification of the enzyme activity in leukocytes is used as diagnostic confirmation of MPS. OBJECTIVE: To determinate the cost-effectiveness of the measurement of I2S enzyme activity in leukocytes compared with not carrying out the enzyme activity measurement for diagnostic confirmation of MPS II from the perspective of the Colombian health system. METHODS: A cost-effectiveness analysis was conducted on the basis of a decision tree model...
December 2016: Value in Health Regional Issues
https://www.readbyqxmd.com/read/27979613/mucopolysaccharidosis-iva-and-glycosaminoglycans
#19
REVIEW
Shaukat Khan, Carlos J Alméciga-Díaz, Kazuki Sawamoto, William G Mackenzie, Mary C Theroux, Christian Pizarro, Robert W Mason, Tadao Orii, Shunji Tomatsu
Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS). C6S and KS are mainly produced in the cartilage. Therefore, the undegraded substrates are stored primarily in cartilage and in its extracellular matrix (ECM), leading to a direct impact on cartilage and bone development, and successive systemic skeletal dysplasia...
January 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27956712/induction-of-integrin-signaling-by-steroid-sulfatase-in-human-cervical-cancer-cells
#20
Dong-Jin Ye, Yeo-Jung Kwon, Sangyun Shin, Hyoung-Seok Baek, Dong-Won Shin, Young-Jin Chun
Steroid sulfatase (STS) is an enzyme responsible for the hydrolysis of aryl and alkyl sulfates. STS plays a pivotal role in the regulation of estrogens and androgens that promote the growth of hormone-dependent tumors, such as those of breast or prostate cancer. However, the molecular function of STS in tumor growth is still not clear. To elucidate the role of STS in cancer cell proliferation, we investigated whether STS is able to regulate the integrin signaling pathway. We found that overexpression of STS in HeLa cells increases the protein and mRNA levels of integrin β1 and fibronectin, a ligand of integrin α5β1...
December 13, 2016: Biomolecules & Therapeutics
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