keyword
MENU ▼
Read by QxMD icon Read
search

Sulfatase

keyword
https://www.readbyqxmd.com/read/27909074/sulfatase-activities-are-regulated-by-the-interaction-of-the-sulfatase-modifying-factor-1-with-sumf2
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/27857809/delayed-speech-hyperactivity-and-coarse-facies-does-sanfilippo-syndrome-come-to-mind
#6
Ayşe Kartal
Mucopolysaccharidosis Type IIIA (MPS IIIA) or Sanfilippo-A syndrome is caused by a deficiency in lysosomal a-heparan N-sulfatase. Its clinical manifestations include progressive dementia, hyperactivity, and aggressive behavior. Unlike other mucopolysaccharide disorders, the diagnosis of MPS IIIA is challenging in both adults and children. This diagnostic challenge has been associated with the high incidence of false negative results encountered on urinary screening tests. We herein describe Sanfilippo-A syndrome in a pediatric patient who presented with progressive hyperactivity, delayed language, and developmental delay and a negative urine screening test...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27855521/elosulfase-alfa-bmn-110-for-the-treatment-of-mucopolysaccharidosis-iva-morquio-a-syndrome
#7
Christian J Hendriksz
Morquio A syndrome is a rare, autosomal recessive, lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). In 2014, the use of recombinant human GALNS, elosulfase alfa, was approved in the European Union, Canada, the United States, Australia, and Brazil for the treatment of Morquio A syndrome. Elosulfase alfa is administered intravenously once-weekly at a dose of 2.0 mg/kg. Areas covered: This is a review of the efficacy, safety and tolerability, pharmacokinetics and pharmacodynamics, and other outcomes of elosulfase alfa treatment of patients with Morquio A...
November 23, 2016: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/27837218/detailed-molecular-characterization-of-a-novel-ids-exonic-mutation-associated-with-multiple-pseudoexon-activation
#8
L Grodecká, T Kováčová, M Kramárek, S Seneca, K Stouffs, C De Laet, F Majer, T Kršjaková, P Hujová, K Hrnčířová, P Souček, W Lissens, E Buratti, Tomas Freiberger
: Mutations affecting splicing underlie the development of many human genetic diseases, but rather rarely through mechanisms of pseudoexon activation. Here, we describe a novel c.1092T>A mutation in the iduronate-2-sulfatase (IDS) gene detected in a patient with significantly decreased IDS activity and a clinical diagnosis of mild mucopolysaccharidosis II form. The mutation created an exonic de novo acceptor splice site and resulted in a complex splicing pattern with multiple pseudoexon activation in the patient's fibroblasts...
November 12, 2016: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/27829684/comparative-study-of-idursulfase-beta-and-idursulfase-in-vitro-and-in-vivo
#9
Chihwa Kim, Jinwook Seo, Yokyung Chung, Hyi-Jeong Ji, Jaehyeon Lee, Jongmun Sohn, Byoungju Lee, Eui-Cheol Jo
Hunter syndrome is an X-linked lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS), leading to the accumulation of glycosaminoglycans (GAGs). Two recombinant enzymes, idursulfase and idursulfase beta are currently available for enzyme replacement therapy for Hunter syndrome. These two enzymes exhibited some differences in various clinical parameters in a recent clinical trial. Regarding the similarities and differences of these enzymes, previous research has characterized their biochemical and physicochemical properties...
November 10, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27826022/functional-characterization-of-arylsulfatase-b-mutations-in-indian-patients-with-maroteaux-lamy-syndrome-mucopolysaccharidosis-type-vi
#10
Anusha Uttarilli, Divya Pasumarthi, Prajnya Ranganath, Ashwin B Dalal
MPS VI is an autosomal recessive disorder which occurs due to the deficiency of N-acetyl galactosamine-4-sulfatase (Arylsulfatase B - ARSB) involved in catabolism of dermatan sulfate resulting from disease-causing variations in the ARSB gene. Human Gene Mutation Database (HGMD) search revealed 200 different mutations in ARSB worldwide. In the present study we carried out molecular and functional analyses to characterize the mutations reported by us in Indian population. Mutation analysis of 19 MPS VI patients revealed presence of a total of 15 different mutations of which twelve were novel [p...
November 5, 2016: Gene
https://www.readbyqxmd.com/read/27825773/four-novel-mutations-in-the-n-acetylgalactosamine-6-sulfate-sulfatase-gene-among-egyptian-patients-with-morquio-a-disease
#11
Ekram M Fateen, Hanan Abd El Mawgoud, Noura R Eissa, Mona M Ibrahim, Mona S Aglan, Mona L Essawi
Morquio A disease (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS) encoded by the GALNS gene. This deficiency leads to a decreased ability to degrade the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate, thereby causing their accumulation within the lysosomes and consequently prominent skeletal and visceral abnormalities. Clinical evaluation and biochemical GALNS enzyme activity determination were carried out for the patients from four unrelated Egyptian families...
November 4, 2016: Gene
https://www.readbyqxmd.com/read/27817780/-identification-of-gene-mutation-and-prenatal-diagnosis-in-a-family-with-x-linked-ichthyosis
#12
Ji-Wei Huang, Ning Tang, Wu-Gao Li, Zhe-Tao Li, Shi-Qiang Luo, Jing-Wen Li, Jun Huang, Ti-Zhen Yan
X-linked ichthyosis (XLI) is a metabolic disease with steroid sulfatase deficiency and often occurs at birth or shortly after birth. The encoding gene of steroid sulfatase, STS, is located on the short arm of the X chromosome, and STS deletion or mutation can lead to the development of this disease. This study collected the data on the clinical phenotype from a family, and the proband, a boy aged 11 years with full-term vaginal delivery, had dry and rough skin and black-brown scaly patches, mainly in the abdomen and extensor aspect of extremities...
November 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27806323/human-sulfatase-1-exerts-anti-tumor-activity-by-inhibiting-the-akt-cdk4-signaling-pathway-in-melanoma
#13
Xiaoli Lou, Bin Sun, Jianxing Song, Yicun Wang, Junhao Jiang, Yang Xu, Zeqiang Ren, Changqing Su
Human sulfatase 1 (hSulf-1) has aryl sulfatase activity. It can reduce the sulfation of cell surface heparan sulfate proteoglycan (HSPG) and inhibit various growth factor receptor-mediated signaling pathways. In most cancers, hSulf-1 is inactivated, which endows cancer cells with increasesed cell proliferation and metastatic activities, inhibition of apoptosis, and decreased sensitivity to radio- and chemotherapy. In this study, we found that hSulf-1 overexpression in melanoma cells can inhibit cell proliferation and induce cell cycle arrest and apoptosis by decreasing the protein kinase B (AKT) phosphorylation and limiting CDK4 nuclear import...
October 31, 2016: Oncotarget
https://www.readbyqxmd.com/read/27803481/improved-therapeutic-efficacy-in-bone-and-joint-disorders-by-targeted-drug-delivery-to-bone
#14
Tatsuo Takahashi
 Site-specific drug delivery to bone is considered achievable using acidic amino acid (L-Asp or L-Glu) homopeptides known as acidic oligopeptides. We found that fluorescence-labeled acidic oligopeptides containing six or more residues bound strongly to hydroxyapatite, which is a major component of bone, and were selectively delivered to and retained in bone after systemic administration. We explored the applicability of this result for drug delivery by conjugation of estradiol and levofloxacin with an L-Asp hexapeptide...
2016: Yakugaku Zasshi: Journal of the Pharmaceutical Society of Japan
https://www.readbyqxmd.com/read/27797586/novel-mutations-including-a-large-deletion-in-the-arsb-gene-causing-mucopolysaccharidosis-type-vi
#15
Chupong Ittiwut, Sukanya Boonbuamas, Chalurmpon Srichomthong, Rungnapa Ittiwut, Kanya Suphapeetiporn, Vorasuk Shotelersuk
OBJECTIVE: Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome), a rare autosomal recessive lysosomal storage disease, is caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, or ARSB) gene, resulting in a deficiency of ARSB activity. This study aimed to characterize the clinical and molecular features of four unrelated Thai patients with MPS VI. Two were products of consanguineous marriages. MATERIALS AND METHODS: The diagnosis was confirmed by biochemical and genetic tests...
October 31, 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27789401/generation-of-human-induced-pluripotent-stem-cell-ipsc-line-from-an-unaffected-female-carrier-of-mucopolysaccharidosis-type-ii-mps-ii-disorder
#16
Eszter Varga, Csilla Nemes, Eszter Kovács, István Bock, Norbert Varga, Anita Fehér, András Dinnyés, Julianna Kobolák
Peripheral blood was collected from a 39-year-old unaffected female carrier of an X-linked recessive mutation of Iduronate 2-sulfatase gene (NM_000202.7(IDS):c.85C>T) causing MPS II (OMIM 309900). Peripheral blood mononuclear cells (PBMCs) were reprogrammed by lentiviral delivery of a self-silencing hOKSM polycistronic vector. The pluripotency of iPSC line was confirmed by the expression of pluripotency-associated markers and in vitro spontaneous differentiation towards the 3 germ layers. The iPSC showed normal karyotype...
October 3, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27789399/generation-of-mucopolysaccharidosis-type-ii-mps-ii-human-induced-pluripotent-stem-cell-ipsc-line-from-a-1-year-old-male-with-pathogenic-ids-mutation
#17
Eszter Varga, Csilla Nemes, István Bock, Norbert Varga, Anita Fehér, András Dinnyés, Julianna Kobolák
Peripheral blood was collected from a 1-year-old male patient with an X-linked recessive mutation of Iduronate 2-sulfatase (IDS) gene (NM_000202.7(IDS):c.85C>T) causing MPS II (OMIM 309900). Peripheral blood mononuclear cells (PBMCs) were reprogrammed by lentiviral delivery of a self-silencing hOKSM polycistronic vector. The pluripotency of the iPSC line was confirmed by the expression of pluripotency-associated markers and in vitro spontaneous differentiation towards the 3 germ layers. The iPSC line showed normal karyotype...
October 1, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27789398/generation-of-mucopolysaccharidosis-type-ii-mps-ii-human-induced-pluripotent-stem-cell-ipsc-line-from-a-3-year-old-male-with-pathogenic-ids-mutation
#18
Eszter Varga, Csilla Nemes, István Bock, Norbert Varga, Anita Fehér, Julianna Kobolák, András Dinnyés
Peripheral blood was collected from a 3-year-old male patient with an X-linked recessive mutation of Iduronate 2-sulfatase (IDS) gene (NM_000202.7(IDS):c.85C>T) causing MPS II (OMIM 309900). Peripheral blood mononuclear cells (PBMCs) were reprogrammed by lentiviral delivery of a self-silencing hOKSM polycistronic vector. The pluripotency of the iPSC line was confirmed by the expression of pluripotency-associated markers and in vitro spontaneous differentiation towards the 3 germ layers. The iPSC line showed normal karyotype...
October 1, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27789394/generation-of-mucopolysaccharidosis-type-ii-mps-ii-human-induced-pluripotent-stem-cell-ipsc-line-from-a-7-year-old-male-with-pathogenic-ids-mutation
#19
Eszter Varga, Csilla Nemes, István Bock, Norbert Varga, Anita Fehér, Julianna Kobolák, András Dinnyés
Peripheral blood was collected from a 7-year-old male patient with an X-linked recessive mutation of Iduronate 2-sulfatase (IDS) gene (NM_000202.7(IDS):c.182C>T) causing MPS II (OMIM 309900). Peripheral blood mononuclear cells (PBMCs) were reprogrammed by lentiviral delivery of a self-silencing hOKSM polycistronic vector. The pluripotency of the iPSC line was confirmed by the expression of pluripotency-associated markers and in vitro spontaneous differentiation towards the 3 germ layers. The iPSC line showed normal karyotype...
October 1, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27768819/habitat-and-taxon-as-driving-forces-of-carbohydrate-catabolism-in-marine-heterotrophic-bacteria-example-of-the-model-algae-associated-bacterium-zobellia-galactanivorans-dsij-t
#20
Tristan Barbeyron, François Thomas, Valérie Barbe, Hanno Teeling, Chantal Schenowitz, Carole Dossat, Alexander Goesmann, Catherine Leblanc, Frank Oliver Glöckner, Mirjam Czjzek, Rudolf Amann, Gurvan Michel
The marine flavobacterium Zobellia galactanivorans Dsij(T) was isolated from a red alga and by now constitutes a model for studying algal polysaccharide bioconversions. We present an in-depth analysis of its complete genome and link it to physiological traits. Z. galactanivorans exhibited the highest gene numbers for glycoside hydrolases, polysaccharide lyases and carbohydrate esterases and the second highest sulfatase gene number in a comparison to 125 other marine heterotrophic bacteria (MHB) genomes. Its genome contains 50 polysaccharide utilization loci, 22 of which contain sulfatase genes...
October 21, 2016: Environmental Microbiology
keyword
keyword
102370
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"