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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
#1
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
#2
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
#3
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
#4
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
#5
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...
August 13, 2016: 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
#6
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
#7
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
#8
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
#9
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
#10
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...
November 29, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27956712/induction-of-integrin-signaling-by-steroid-sulfatase-in-human-cervical-cancer-cells
#11
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
https://www.readbyqxmd.com/read/27955919/long-term-immunogenicity-of-elosulfase-alfa-in-the-treatment-of-morquio-a-syndrome-results-from-mor-005-a-phase-iii-extension-study
#12
Brian Long, Troy Tompkins, Celeste Decker, Lynne Jesaitis, Shahid Khan, Peter Slasor, Paul Harmatz, Charles A O'Neill, Becky Schweighardt
PURPOSE: Elosulfase alfa is an enzyme replacement therapy for the treatment of Morquio A syndrome (mucopolysaccharidosis IVA), a lysosomal storage disorder caused by a deficiency of the enzyme N-acetylgalactose-amine-6-sulfatase. We previously reported immunogenicity data from our 24-week placebo-controlled Phase III study, MOR-004. Here, we report the long-term immunogenicity profile of elosulfase alfa from MOR-005, the Phase III extension trial to assess potential correlations between antidrug antibodies and efficacy and safety profile outcomes throughout 120 weeks of treatment...
December 9, 2016: Clinical Therapeutics
https://www.readbyqxmd.com/read/27940297/increased-levels-of-enzymes-involved-in-local-estradiol-synthesis-in-chronic-obstructive-pulmonary-disease
#13
G F J Konings, N L Reynaert, B Delvoux, F M Verhamme, K R Bracke, G G Brusselle, A Romano, J H J Vernooy
INTRODUCTION: Steroid hormones are involved in lung development, pulmonary inflammation, and lung cancer. Estrogen signaling and exposure may play a role in pulmonary disorders, including COPD. In both genders, estrogens can be generated locally in the lungs and this contributes importantly to the tissue exposure to these steroids. OBJECTIVE: To characterize and assess differences in localization of estrogen receptors and enzymes involved in the local generation of estrogens in COPD...
December 8, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27926479/decline-in-arylsulfatase-b-leads-to-increased-invasiveness-of-melanoma-cells
#14
Sumit Bhattacharyya, Leo Feferman, Kaoru Terai, Arkadiusz Z Dudek, Joanne K Tobacman
Arylsulfatase B (ARSB; N-acetylgalactosamine 4-sulfatase) is reduced in several malignancies, but levels in melanoma have not been investigated previously. Experiments were performed in melanoma cell lines to determine ARSB activity and impact on melanoma invasiveness. ARSB activity was reduced ~50% in melanoma cells compared to normal melanocytes. Silencing ARSB significantly increased the mRNA expression of chondroitin sulfate proteoglycan(CSPG)4 and pro-matrix metalloproteinase(MMP)-2, known mediators of melanoma progression...
December 1, 2016: Oncotarget
https://www.readbyqxmd.com/read/27919139/-a-case-of-steroid-sulfatase-deficiency-complicated-by-bilateral-undescended-testis
#15
Takuya Okusa, Gaku Yamamichi, Ayumu Taniguchi, Nozomu Kishimoto, Koichi Tsutahara, Go Tanigawa, Tetsuya Takao, Seiji Yamaguchi
Steroid sulfatase (STS) deficiency is one of the causes of ichthyoses. STS genes on the X chromosome is responsible for this disease. Therefore, STS deficiency is also called X-linked ichthyosis. Herein we report a case of STS deficiency complicated by bilateral undescended testis. A5-year-old-boy with STS deficiency was referred to our hospital because of bilateral undescended testis. We performed bilateral orchiopexy.
November 2016: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/27909074/sulfatase-activities-are-regulated-by-the-interaction-of-the-sulfatase-modifying-factor-1-with-sumf2
#16
Ester Zito, Alessandro Fraldi, Stefano Pepe, Ida Annunziata, Gary Kobinger, Paola Di Natale, Andrea Ballabio, Maria Pia Cosma
No abstract text is available yet for this article.
December 2016: EMBO Reports
https://www.readbyqxmd.com/read/27908960/sulfatase-modifying-factor-1-trafficking-through-the-cells-from-endoplasmic-reticulum-to-the-endoplasmic-reticulum
#17
Ester Zito, Mario Buono, Stefano Pepe, Carmine Settembre, Ida Annunziata, Enrico Maria Surace, Thomas Dierks, Maria Monti, Marianna Cozzolino, Piero Pucci, Andrea Ballabio, Maria Pia Cosma
No abstract text is available yet for this article.
December 1, 2016: EMBO Journal
https://www.readbyqxmd.com/read/27883178/genotype-phenotype-correlation-in-44-czech-slovak-croatian-and-serbian-patients-with-mucopolysaccharidosis-type-ii
#18
Lenka Dvorakova, Hana Vlaskova, Adrijan Sarajlija, Danijela Petkovic Ramadza, Helena Poupetova, Eva Hruba, Anna Hlavata, Vladimir Bzduch, Karolina Peskova, Gabriela Storkanova, Bozica Kecman, Maja Djordjevic, Ivo Baric, Ksenija Fumic, Ingeborg Barisic, Martin Reboun, Jan Kulhanek, Jiri Zeman, Martin Magner
Mucopolysaccharidosis type II (Hunter syndrome, MPS II, OMIM 309900) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS). We analysed clinical and laboratory data from 44 Slavic patients with this disease. In total, 21 Czech, 7 Slovak, 9 Croatian and 7 Serbian patients (43 M/1 F) were included in the study (median age 11.0 years, range 1.2-43 years). Birth prevalence ranged from 1:69,223 (Serbia) to 1:192,626 (Czech Rep.). In the majority of patients (71%), the disease manifested in infancy...
November 24, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27872089/transcriptional-induction-of-periostin-by-a-sulfatase-2-tgf%C3%AE-1-smad-signaling-axis-mediates-tumor-angiogenesis-in-hepatocellular-carcinoma
#19
Gang Chen, Ikuo Nakamura, Renumathy Dhanasekaran, Eriko Iguchi, Ezequiel Tolosa, Paola Romecin-Duran, Renzo Vera, Luciana L Almada, Alexander Miamen, Roongruedee Chaiteerakij, Mengtao Zhou, Michael Asiedu, Catherine D Moser, Shaoshan Han, Chunling Hu, Bubu Banini, Abdul Oseini, Yichun Chen, Yong Fang, Dongye Yang, Hassan Shaleh, Shaoqing Wang, Dehai Wu, Tao Song, Ju-Seog Lee, Snorri S Thorgeirsson, Eric Chevet, Vijay H Shah, Martin E Fernandez-Zapico, Lewis Roberts
Existing anti-angiogenic approaches to treat metastatic hepatocellular carcinoma (HCC) are weakly effectual, prompting further study of tumor angiogenesis in this disease setting. Here we report a novel role for the sulfatase 2 (SULF2) in driving HCC angiogenesis. Sulf2-deficient mice (Sulf2 KO) exhibited resistance to diethylnitrosamine-induced HCC and did not develop metastases like wild-type mice (Sulf2 WT). The smaller and less numerous tumors formed in Sulf2 KO mice exhibited a markedly lower microvascular density...
November 21, 2016: Cancer Research
https://www.readbyqxmd.com/read/27871476/steroid-sulfatase-is-increased-in-the-placentas-and-whole-blood-of-women-with-early-onset-preeclampsia
#20
Amy M Gratton, Louie Ye, Fiona C Brownfoot, Natalie J Hannan, Clare Whitehead, Ping Cannon, Minh Deo, Peter J Fuller, Stephen Tong, Tu'uhevaha J Kaitu'u-Lino
INTRODUCTION: Preeclampsia is a serious complication of pregnancy affecting 5% of pregnancies. Our team identified 137 genes highly expressed in placenta relative to other human tissues. Here, we have explored a role for steroid sulfatase (STS) in preeclampsia by characterising STS expression and the functional effects of STS on primary placental trophoblasts. METHODS: Characterisation of STS was performed on preterm preeclamptic and gestation-matched normotensive preterm controls who delivered at <34 weeks gestation...
December 2016: Placenta
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