Chondroitinsulfatases: A group of enzymes that catalyze the hydrolysis of various sulfate bonds of chondroitin sulfate. EC 3.1.6.-.Search Engine: Software used to locate data or information stored in machine-readable form locally or at a distance such as an INTERNET site.Multilingualism: The ability to speak, read, or write several languages or many languages with some facility. Bilingualism is the most common form. (From Random House Unabridged Dictionary, 2d ed)Dictionaries, MedicalDictionaries as Topic: Lists of words, usually in alphabetical order, giving information about form, pronunciation, etymology, grammar, and meaning.Language: A verbal or nonverbal means of communicating ideas or feelings.Vocabulary: The sum or the stock of words used by a language, a group, or an individual. (From Webster, 3d ed)ReadingHistone-Lysine N-Methyltransferase: An enzyme that catalyzes the methylation of the epsilon-amino group of lysine residues in proteins to yield epsilon mono-, di-, and trimethyllysine. EC 2.1.1.43.Methylation: Addition of methyl groups. In histo-chemistry methylation is used to esterify carboxyl groups and remove sulfate groups by treating tissue sections with hot methanol in the presence of hydrochloric acid. (From Stedman, 25th ed)Receptor, Epidermal Growth Factor: A cell surface receptor involved in regulation of cell growth and differentiation. It is specific for EPIDERMAL GROWTH FACTOR and EGF-related peptides including TRANSFORMING GROWTH FACTOR ALPHA; AMPHIREGULIN; and HEPARIN-BINDING EGF-LIKE GROWTH FACTOR. The binding of ligand to the receptor causes activation of its intrinsic tyrosine kinase activity and rapid internalization of the receptor-ligand complex into the cell.Protein Processing, Post-Translational: Any of various enzymatically catalyzed post-translational modifications of PEPTIDES or PROTEINS in the cell of origin. These modifications include carboxylation; HYDROXYLATION; ACETYLATION; PHOSPHORYLATION; METHYLATION; GLYCOSYLATION; ubiquitination; oxidation; proteolysis; and crosslinking and result in changes in molecular weight and electrophoretic motility.Lysine: An essential amino acid. It is often added to animal feed.Carcinoma, Squamous Cell: A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)Protein Methyltransferases: Enzymes that catalyze the methylation of amino acids after their incorporation into a polypeptide chain. S-Adenosyl-L-methionine acts as the methylating agent. EC 2.1.1.

The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region. (1/36)

Deficiency of lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS) leads to mucopolysaccharidosis IV A (MPS IV A), for which there is no definitive treatment so far. Although a number of mutations of the GALNS gene of MPS IV A patients have been described, pathogenesis of the disorder still remains elusive. In order to facilitate in vivo studies using model animals for MPS IV A, we isolated and performed molecular characterization of the mouse homolog of human GALNS. The 2.3-kb cDNA contains a 1560-bp open reading frame encoding 520 amino acid residues. The coding region has 84% similarity to the human GALNS cDNA at amino acid level. The mouse Galns gene was mapped by interspecific backcross analysis to the distal region of chromosome 8 where it co-segregates with Aprt. Northern blot analysis showed a wide expression of a single-copy gene, being higher especially in liver and kidney. The Galns gene was isolated from S129vJ genomic library and its genomic organization was characterized. The mouse Galns gene was about 50-kb long and organized into 14 exons and 13 introns. All intron-exon splice junctions conformed to the GT/AG consensus sequence except exon 8/intron 8 junction. Primer extension shows multiple transcription initiation sites between -44 and -75 although major transcription initiation site was observed at -90 bp from the ATG codon. The 5'-flanking region lacks canonical TATA and CAAT box sequences, but is G+C rich with 10 GC boxes (potential Sp1 binding sites), characteristic of a housekeeping gene promoter.  (+info)

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes. (2/36)

Mucopolysaccharidosis IVA (MPS IVA; OMIM#253000), a lysosomal storage disorder caused by a deficiency of N -acetylgalactosamine-6-sulfate sulfatase (GALNS), has variable clinical phenotypes. To date we have identified 65 missense mutations in the GALNS gene from MPS IVA patients, but the correlation between genotype and phenotype has remained unclear. We studied 17 missense mutations using biochemical approaches and 32 missense mutations, using structural analyses. Fifteen missense mutations and two newly engineered active site mutations (C79S, C79T) were characterized by transient expression analysis. Mutant proteins, except for C79S and C79T, were destabilized and detected as insoluble precursor forms while the C79S and C79T mutants were of a soluble mature size. Mutants found in the severe phenotype had no activity. Mutants found in the mild phenotype had a considerable residual activity (1.3-13.3% of wild-type GALNS activity). Sulfatases, including GALNS, are members of a highly conserved gene family sharing an extensive sequence homology. Thus, a tertiary structural model of human GALNS was constructed from the X-ray crystal structure of N -acetylgalacto-samine-4-sulfatase and arylsulfatase A, using homology modeling, and 32 missense mutations were investigated. Consequently, we propose that there are at least three different reasons for the severe phenotype: (i) destruction of the hydrophobic core or modification of the packing; (ii) removal of a salt bridge to destabilize the entire conformation; (iii) modification of the active site. In contrast, mild mutations were mostly located on the surface of the GALNS protein. These studies shed further light on the genotype-phenotype correlation of MPS IVA and structure-function relationship in the sulfatase family.  (+info)

Enzymatic-assisted vitrectomy. (3/36)

PURPOSE: This paper discusses the approach of enzymatic vitrectomy and potential applications. METHODS: A description of available agents for enzymatic vitreous surgery will be given and the techniques that have been suggested. RESULTS: Both animal and human results will be presented in this article regarding trials of enzymatic vitreous surgery. CONCLUSION: Enzymatic vitreous surgery may be a useful adjunct or additional agent to treat several vitreoretinal diseases.  (+info)

Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease. (4/36)

Mucopolysaccharidosis IVA is an autosomal recessive disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), a lysosomal enzyme required for the stepwise degradation of keratan sulfate (KS) and chondroitin-6-sulfate (C6S). To generate a model for studies of the pathophysiology and of potential therapies, we disrupted exon 2 of Galns, the homologous murine gene. Homozygous Galns-/- mice have no detectable GALNS enzyme activity and show increased urinary glycosaminoglycan (GAGs) levels. These mice accumulate GAGs in multiple tissues including liver, kidney, spleen, heart, brain and bone marrow. At 2 months old, lysosomal storage is present primarily within reticuloendothelial cells such as Kupffer cells and cells of the sinusoidal lining of the spleen. Additionally, by 12 months old, vacuolar change is observed in the visceral epithelial cells of glomeruli and cells at the base of heart valves but it is not present in parenchymal cells such as hepatocytes and renal tubular epithelial cells. In the brain, hippocampal and neocortical neurons and meningeal cells had lysosomal storage. KS and C6S were more abundant in the cytoplasm of corneal epithelial cells of Galns-/- mice compared with wild-type mice by immunohistochemistry. Radiographs revealed no change in the skeletal bones of mice up to 12 months old. Thus, targeted disruption of the murine Galns gene has produced a murine model, which shows visceral storage of GAGs but lacks the skeletal features. The complete absence of GALNS in mutant mice makes them useful for studies of pharmacokinetics and tissue targeting of recombinant GALNS designed for enzyme replacement.  (+info)

Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases. (5/36)

Mucopolysaccharidosis type IVA (MPS IVA) results from a genetic deficiency of N-acetylgalactosamine-6-sulfate (Gal-NAc6S) sulfatase. We have identified two different exonic mutations causing GalNAc6S sulfatase deficiency in two unrelated Japanese families, in one patient with classical Morquio disease, and in two brothers with a mild form of MPS IVA. The nucleotide sequence of the full-length cDNA derived from a patient with classical Morquio disease revealed a two-base deletion at nucleotide position 1343-1344 (1344-1345 or 1345-1346) that altered the reading frame (designated 1342delCA). This mutation, inherited from the proband's consanguineous parents, was revealed by TaqI restriction analysis of a cDNA fragment amplified by the polymerase chain reaction. In the proband with the mild form of the disease, a C to G transversion at nucleotide 667 predicted the substitution of Lys for Asn204 (N204K). Since a new AluI site was created by the N204K mutation, restriction analysis indicated that the affected brothers were homozygous for this mutation, as confirmed by the finding that both their parents had this lesion. Transient expression in GalNAc6S sulfatase deficient fibroblasts of these two mutant alleles showed completely deficient or markedly decreased enzyme activities, thereby indicating that these two mutations were responsible for the enzyme deficiency.  (+info)

Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase. (6/36)

Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disease caused by N-acetylgalactosamine-6-sulfate sulfatase (GALNS) deficiency. In recent studies of enzyme replacement therapy for animal models with lysosomal storage diseases, cellular and humoral immune responses to the injected enzymes have been recognized as major impediments to effective treatment. To study the long-term effectiveness and side effects of therapies in the absence of immune responses, we have developed an MPS IVA mouse model, which has many similarities to human MPS IVA and is tolerant to human GALNS protein. We used a construct containing both a transgene (cDNA) expressing inactive human GALNS in intron 1 and an active site mutation (C76S) in adjacent exon 2 and thereby introduced both the inactive cDNA and the C76S mutation into the murine Galns by targeted mutagenesis. Affected homozygous mice have no detectable GALNS enzyme activity and accumulate glycosaminoglycans in multiple tissues including visceral organs, brain, cornea, bone, ligament and bone marrow. At 3 months, lysosomal storage is marked within hepatocytes, reticuloendothelial Kupffer cells, and cells of the sinusoidal lining of the spleen, neurons and meningeal cells. The bone storage is also obvious, with lysosomal distention in osteoblasts and osteocytes lining the cortical bone, in chondrocytes and in the sinus lining cells in bone marrow. Ubiquitous expression of the inactive human GALNS was also confirmed by western blot using the anti-GALNS monoclonal antibodies newly produced, which resulted in tolerance to immune challenge with human enzyme. The newly generated MPS IVA mouse model should provide a good model to evaluate long-term administration of enzyme replacement.  (+info)

Enzymatic and hemolytic activities of Candida dubliniensis strains. (7/36)

Candida dubliniensis is an opportunistic yeast that has been recovered from several body sites in many populations; it is most often recovered from the oral cavities of human immunodeficiency virus-infected patients. Although extensive studies on epidemiology and phylogeny of C. dubliniensis have been performed, little is known about virulence factors such as exoenzymatic and hemolytic activities. In this study we compared proteinase, hyaluronidase, chondroitin sulphatase and hemolytic activities in 18 C. dubliniensis and 30 C. albicans strains isolated from AIDS patients. C. albicans isolates produced higher amounts of proteinase than C. dubliniensis (p < 0.05). All the tested C. dubliniensis strains expressed hyaluronidase and chondroitin sulphatase activities, but none of them were significantly different from those observed with C. albicans (p > 0.05). Hemolytic activity was affected by CaCl2; when this component was absent, we did not notice any significant difference between C. albicans and C. dubliniensis hemolytic activities. On the contrary, when we added 2.5 g% CaCl2, the hemolytic activity was reduced on C. dubliniensis and stimulated on C. albicans tested strains (p < 0.05).  (+info)

N-acetylgalactosamine-6-sulfate sulfatase in human placenta: purification and characteristics. (8/36)

N-Acetylgalactosamine-6-sulfate sulfatase from human placenta was purified 33,600-fold using beta-N-acetyl-D-galactosamine 6-sulfate-(1----4)-beta-D-glucuronic acid-(1----3)-N-acetyl-D-[3H]galactosaminitol 6-sulfate as the substrate. This enzyme is an oligomer with a molecular mass of 120 kDa and consists of polypeptides of 40 and 15 kDa. The 15 kDa polypeptide is a glycoprotein. This purified protein has activities of N-acetylgalactosamine-6-sulfate sulfatase and galactose-6-sulfate sulfatase. Rabbit antiserum was raised against the purified protein. The antibody titrated N-acetylgalactosamine-6-sulfate sulfatase and galactose-6-sulfate sulfatase. The size of the precursor of the enzyme is 60 kDa, as determined by cell-free translation. The optimal pH values of the N-acetylgalactosamine-6-sulfate sulfatase and galactose-6-sulfate sulfatase activities are pH 3.8-4.0, and the Kms are 8 and 13 microM, respectively. Sulfate and phosphate ions are potent competitive inhibitors for the enzyme and their inhibition constants are 35 and 200 microM, respectively. Cross-reactive materials of 40 and 15 kDa were detected by immunoblot analysis, in the placenta, liver, and normal fibroblasts, but not in fibroblasts from a patient with Morquio disease.  (+info)

Complete information for GALNS gene (Protein Coding), Galactosamine (N-Acetyl)-6-Sulfatase, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
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Accepted name: iduronate-2-sulfatase. Reaction: Hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin. Other name(s): chondroitinsulfatase; idurono-2-sulfatase; iduronide-2-sulfate sulfatase; L-iduronosulfatase; L-idurono sulfate sulfatase; iduronate sulfatase; sulfo-L-iduronate sulfatase; L-iduronate 2-sulfate sulfatase; sulfoiduronate sulfohydrolase; 2-sulfo-L-iduronate 2-sulfatase; iduronate-2-sulfate sulfatase; iduronate sulfate sulfatase. Systematic name: L-iduronate-2-sulfate 2-sulfohydrolase. Links to other databases: BRENDA, EXPASY, KEGG, Metacyc, CAS registry number: 50936-59-9. References:. 1. Archer, I.M., Harper, P.S. and Wusteman, F.S. Multiple forms of iduronate 2-sulphate sulphatase in human tissues and body fluids. Biochim. Biophys. Acta 708 (1982) 134-140. [PMID: 6816283]. 2. Bach, J., Eisenberg, F., Cantz, M. and Neufeld, E.C. The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc. Natl. ...
N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene. This gene encodes N-acetylgalactosamine-6-sulfatase, which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans keratan sulfate and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. GRCh38: Ensembl release 89: ENSG00000141012 - Ensembl, May 2017 GRCm38: Ensembl release 89: ENSMUSG00000015027 - Ensembl, May 2017 "Human PubMed Reference:". "Mouse PubMed Reference:". Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y, et al. (Jan 1992). "Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase". Biochem Biophys Res Commun. 181 (2): 677-83. ...
...NOVATO Calif. Nov. 29 2011 /- BioMarin Pharmaceut... We expect this study to build our knowledge base in enzyme replacemen...The primary objective of the Phase 2 open-label multinational clinic... About BioMarinBioMarin develops and commercializes innovative bioph...,BioMarin,Initiates,Phase,2,Study,for,GALNS,in,Patients,Under,Five,Years,of,Age,With,MPS,IVA,medicine,advanced medical technology,medical laboratory technology,medical device technology,latest medical technology,Health
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This multicenter, open-label extension study is designed to assess long-term efficacy and safety of 2.0 milligrams (mg)/kilogram(kg)/week of BMN 110 in patients diagnosed with Mucopolysaccharidosis IVA (MPS IVA). Patients with MPS IVA, who enrolled in a prior BioMarin sponsored clinical study of BMN 110 (NCT00884949; Study Identification Number MOR-002), were eligible to enroll in this study (except patients who enrolled in NCT01275066; Study Identification Number MOR-004 ...
This multicenter, open-label extension study is designed to assess long-term efficacy and safety of 2.0 milligrams (mg)/kilogram(kg)/week of BMN 110 in patients diagnosed with Mucopolysaccharidosis IVA (MPS IVA). Patients with MPS IVA, who enrolled in a prior BioMarin sponsored clinical study of BMN 110 (NCT00884949; Study Identification Number MOR-002), were eligible to enroll in this study (except patients who enrolled in NCT01275066; Study Identification Number MOR-004 ...
Morquio syndrome is an autosomal recessive mucopolysaccharidosis characterized by short trunk dwarfism, fine corneal opacities, skeletal changes, and normal intelligence. Morquio syndromes A (MPS4A; {253000}) and B (MPS4B; {253010}) are caused by mutations in the N-acetylglucosamine-6-sulfate sulfatase (GALNS; {612222}) and beta-galactosidase (GLB1; {611458}) genes, respectively. MPS4A and MPS4B are characterized biochemically by increased urinary excretion of keratan sulfate ({1:Beck et al., 1986}). There is some evidence of an additional form of Morquio syndrome, referred to here as type C, in which urinary excretion of keratan sulfate is absent. However, {5:McKusick (1972)} suggested that the nonkeratosulfate- excreting Morquio syndrome may be allelic to other forms of Morquio syndrome ...
Morquio A syndrome (or mucopolysaccharidosis IVa) is an ultra-rare multi-organ disease, resulting in significantly impaired functional capacity, mobility and quality of life (QoL). This patient-reported outcomes survey evaluated the global burden of Morquio A among adults (≥18 years, N = 27) and children (7-17 years, N = 36), including the impact on mobility, QoL, pain and fatigue. QoL was assessed using the general Health-Related Quality of Life (HRQoL) questionnaire (the EuroQol [EQ]-5D-5L). Pain and pain interference with daily activities were assessed using the Brief Pain Inventory Short Form (BPI-SF) in adults and the Adolescent Pediatric Pain Tool (APPT) in children. Fatigue was assessed by questioning the patients on the number of evenings in a week they felt extremely tired. The clinical data showed a wide heterogeneity in clinical manifestations between patients, with the majority of patients showing differing levels of endurance, short stature, bone and joint abnormalities, abnormal gait and
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Abdul Mueed Bidchol, Ashwin Dalal, Hitesh Shah, Suryanarayana S, Sheela Nampoothiri, Madhulika Kabra, Neerja Gupta, Sumita Danda, Kalpana Gowrishankar, Shubha R Phadke, Seema Kapoor, Mahesh Kamate, IC Verma, Ratna Dua Puri, VH Sankar, A Radha Rama Devi, SJ Patil, Prajnya Ranganath, S Jamal Md Nurul Jain, Meenal Agarwal, Ankur Singh, Pallavi Mishra, Parag M Tamhankar, Puthiya Mundyat Gopinath, Nagarajaram HA, Kapaettu Satyamoorthy, Katta Mohan Girisha (2014) GALNS Mutations in Indian Patients with Mucopolysaccharidosis IVA Am J Med Genet Part A 164A:2793- ...
Qubbaj et al. (2008) performed preimplantation genetic diagnosis for a couple with three children affected with Morquio disease, having homozygous W159C mutation in GALNS gene. The couple were first cousins, and had a 14-year-old affected daughter and twin affected sisters. Both twins presented with dysmorphic features, spondyloepiphyseal abnormalities, short stature, and cardiac valvular involvement. One of the twins died at the age of 4-years due to chest infection. Performing ovarian stimulation, oocyte retrieval, intracytoplasmic sperm injection procedure, embryo biopsy, cell lysis, and multiple displacement amplification, three embryos out of seven were genotypically normal and two were transferred back to the mother on day 4. Pregnancy ensued and a carrier healthy male infant was delivered. The misdiagnosis was explained by allele dropout (ADO) of the mutant allele in embryo 3.. Moammar et al. (2010) reviewed all patients diagnosed with inborn errors of metabolism (IEM) from 1983 to 2008 ...
Objectives To identify changes in the expression patterns of enzymes involved in chondroitin sulfate (CS) glycosaminoglycan (GAG) metabolism in articular cartilage proteoglycan (PG) isolated from adolescent patients with Kashin-Beck disease (KBD). Methods Samples of articular cartilage were divided into two groups: Control samples (from five normal children), and KBD samples (from five KBD children) aged 3-12 years old. The morphology and pathology of hand joint cartilage were examined by histochemical staining. The localization and expression patterns of enzymes involved in CS GAG metabolism (i.e., PAPS synthetase 2 (PAPSS2), PAPS transporter 1 (PAPST1), Carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferases 15 (CHST15), Arylsulfatase B (ARSB) and N-acetylgalactosamine-6-sulfate sulfatase (GALNS)) were performed using immuno-histochemical analyses. Positive immunostaining in articular cartilage was semi-quantified. Results Reduced aggrecan staining was observed in KBD samples ...
MONDAY, Feb. 17, 2014 (HealthDay News) -- Vimizim (elosulfase alfa) has been approved by the U.S. Food and Drug Administration to treat a rare childhood disorder called Mucopolysaccharidosis Type IVA, also known as Morquio A syndrome.. The disorder is caused by a missing metabolic enzyme that leads to problems with bone development, growth and movement, the agency said in a news release. It affects about 800 people in the United States.. Vimizim replaces the missing enzyme, known as GALNS. The drugs safety and effectiveness were established in clinical trials involving 176 people, ranging in age from 5 to 57. The most common side effects included fever, vomiting, headache, nausea, abdominal pain, chills and fatigue, the FDA said.. The drugs safety and effectiveness werent evaluated in children under age 5 years, the agency added. Vimizims label will include a boxed warning to include the risk of anaphylaxis, an allergic-like reaction that could be life threatening.. Vimizim was the first ...
SAN RAFAEL, Calif., Nov. 23, 2015-- BioMarin Pharmaceutical Inc. today announced that the The National Institute for Health and Care Excellence, NHS England and BioMarin have reached an agreement on a Managed Access Agreement, which provides a basis for access for clinically suitable mucopolysaccharidosis type IVA patients to Vimizim ® treatment for the next...
Author(s): Shunji Tomatsu, Kazuki Sawamoto, Carlos J Alméciga-Díaz, Tsutomu Shimada, Michael B Bober, Yasutsugu Chinen, Hiromasa Yabe, Adriana M Montaño, Roberto Giugliani, Francyne Kubaski, Eriko Yasuda, Alexander Rodríguez-López, Angela J Espejo-Mojica, Oscar F Sánchez, Robert W Mason, Luis A Barrera, William G Mackenzie, Tadao Orii. Journal: ...
DEAR DADS - A Special Message from an Adventure Guides Dad The YMCA of Orange County recently received an email from one of the dads who participates in our Adventure Guides program alongside his two extraordinary daughters. Both of his girls have a rare form of dwarfism called Morquio Syndrome and have used the past year…. ...
Looking for online definition of Morquio, Louis in the Medical Dictionary? Morquio, Louis explanation free. What is Morquio, Louis? Meaning of Morquio, Louis medical term. What does Morquio, Louis mean?
Anterior vertebral body beaking occurs in a number of conditions and may eminate from the central portion or the lower third of the vertebral body. Middle third Morquio syndrome 1 (middle for Morquio) Lower third Hurler syndrome 2 achondropl...
-Leerink Global Healthcare Conference on February 12. SAN RAFAEL, Calif., Feb. 4, 2015-- BioMarin Pharmaceutical Inc., today announced that Jean-Jacques Bienaimé will participate in the Leerink Global Healthcare Conference on February 12, 2015 at 8:55am ET in New York. Approved products include VIMIZIM ® for MPS IVA, a product wholly developed and...
A friend of mine called this week to tell me she was pregnant. While excited for her, I understand that this was not planned and what she was feeling. I felt the same way with Aaron and was in denial for months. If I would tell someone they would be So excited and I would just cringe, because I was not. I knew when he was born I would feel differently, but at the same time I just was not happy to be pregnant. My friend is feeling the same way. This was not planned and when you are over 35 that brings new risks and worries. I told her it was OK to not be happy. She has the right to feel that way. I wish for her that others will respect that. I know I would have appreciated it. I know when she has her baby she will feel so differently. I know I never would have traded Aaron for anything. He is my baby and he gets so excited to see me when I come home. Makes me forget everything else in the world ...
(li so sōm) A spherical membranous eucaryotic organelle that contains hydrolytic enzymes and is responsible for the intracellular digestion of substances
About BioMarin. BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions. The companys product portfolio comprises four approved products and multiple clinical and pre-clinical product candidates. Approved products include Naglazyme® (galsulfase) for mucopolysaccharidosis VI (MPS VI), a product wholly developed and commercialized by BioMarin; Aldurazyme® (laronidase) for mucopolysaccharidosis I (MPS I), a product which BioMarin developed through a 50/50 joint venture with Genzyme Corporation; Kuvan® (sapropterin dihydrochloride) Tablets, for phenylketonuria (PKU), developed in partnership with Merck Serono, a division of Merck KGaA of Darmstadt, Germany; and Firdapse® (amifampridine), which has been approved by the European Commission for the treatment of Lambert Eaton Myasthenic Syndrome (LEMS). Product candidates include Vimizim (N-acetylgalactosamine 6-sulfatase), formally referred to as GALNS, which successfully completed Phase III ...
In our continuing quest to design efficient inhibitors of estrone sulfatase activity and to assess the recognition of estrone sulfate surrogates by estrone sulfatase, we synthesized and evaluated several sulfonate derivatives of 5,6,7,8-tetrahydronaphth-2-ol and estrone. 5,6,7,8-Tetrahydronaphth-2-methanesulfonate (11), and 5,6,7,8-tetrahydronaphth-2-(p-toluene)sulfonate (12) were found not to inhibit estrone sulfatase activity; estrone-3-methane-sulfonate (5), estrone-3-ethanesulfonate (6), estrone-3-butanesulfonate (7), and estrone-3-[(+)10-camphor]sulfonate (8) all weakly inhibited estrone sulfatase, and the best inhibitor, from this class of compounds, was estrone-3-(p-toluene)sulfonate (9). At 10 microM, it inhibited estrone sulfatase activity by 91%. These results emphasize some of the requirements needed for high-affinity binding to the enzyme.
Sulfatase 2兔多克隆抗体(ab101057)可与人样本反应并经WB, ICC/IF实验严格验证。中国75%以上现货,所有产品均提供质保服务,可通过电话、电邮或微信获得本地专属技术支持。
Mouse anti Human Sulfatase 2 (C-Terminal) antibody, clone 2B4 recognizes an epitope within the C-terminal (CT) subunit of Sulfatase 2 (Sul
Abcam provides specific protocols for Anti-Iduronate 2 sulfatase antibody (ab85701) : Western blot protocols, Immunohistochemistry protocols
... - Informative & researched article on Kstnavrtteh abhijatasya iva maneh grahitr grahana grahyesu tatstha tadahjanata samapattih from Indianetzone, the largest free encyclopedia on India.
Mucopolysaccharidosis VI: Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).
The MPS share many clinical features, although in variable degrees. These include a chronic and progressive course, multisystem involvement, organomegaly, dysostosis multiplex, and abnormal facies. Hearing, vision, airway, cardiovascular function, and joint mobility may be affected. Profound mental retardation is characteristic of MPS IH (Hurler syndrome), the severe form of MPS II (Hunter syndrome), and all subtypes of the MPS III (Sanfilippo syndrome), but normal intellect may be retained in other MPS. The bony lesions of MPS IV (Morquio syndrome) are specific to that disorder. There is clinical similarity between different enzyme deficiencies, and, conversely, a wide spectrum of clinical severity within any one enzyme deficiency. Supportive management-with particular attention to respiratory and cardiovascular complications, loss of hearing and vision, communicating hydrocephalus, and spinal cord compression-can greatly improve the quality of life for patients and their families.. ...
BGA : Aiding in the diagnosis of GM1 gangliosidosis, Morquio B disease, and galactosialidosis   This test is not suitable for carrier detection.
Steroid sulfatase兔多克隆抗体(ab62219)可与人样本反应并经WB, IHC实验严格验证,被1篇文献引用。所有产品均提供质保服务,中国75%以上现货。
... chondroitinsulfatases MeSH D08.811.277.352.827.180.175.060 --- n-acetylgalactosamine-4-sulfatase MeSH D08.811.277.352.827.180. ...
Chondroitinsulfatases/chemistry. *Chondroitinsulfatases/deficiency. *Chondroitinsulfatases/genetics*. *Chondroitinsulfatases/ ...
chondroitinsulfatases plural of chondroitinsulfatase. → Definition and anagrams of chondroitinsulfatases. → Other senses and ...
Chondroitinsulfatases / therapeutic use Actions. * Search in PubMed * Search in MeSH * Add to Search ...
... /chemistry , Chondroitinsulfatases/immunology , Chondroitinsulfatases/isolation & purification , Epitopes ... Base Sequence , Chondroitinsulfatases , Genetics , Female , Genetic Testing , Methods , Humans , Molecular Sequence Data , ... Adult , Base Sequence , Child , Child, Preschool , Chondroitinsulfatases , Genetics , Female , Humans , Male , Molecular ... Amino Acid Sequence , Asian Continental Ancestry Group , Genetics , Base Sequence , Child , Chondroitinsulfatases , Chemistry ...
Chondroitin sulfatases differentially regulate Wnt signaling in prostate stem cells through effects on SHP2, phospho-ERK1/2, ... Chondroitin sulfatases differentially regulate Wnt signaling in prostate stem cells through effects on SHP2, phospho-ERK1/2, ...
Chondroitin sulfatases differentially regulate Wnt signaling in prostate stem cells through effects on SHP2, phospho-ERK1/2, ... The chondroitin sulfatases N-acetylgalactosamine-4-sulfatase (ARSB) and galactosamine-N-acetyl-6-sulfatase (GALNS) remove ...
Chondroitinsulfatases. *Enzymes. *Enzymes and Coenzymes. *Esterases. *Hydrolases. *Hydrolytic Lysosomal Glycosaminoglycan- ...
A List with 711 English Words With ULF - Words: ACESULFAME - ZIRCOSULFATE -- -- WordMine.info is a search engine for finding words. The searches can be done in a lots of different languages. Search Type:
A List with 117 English Words With 21 Letters With SE - Words: ABEQUOSYLTRANSFERASES - URETEROHYDRONEPHROSES -- -- WordMine.info is a search engine for finding words. The searches can be done in a lots of different languages. Search Type: Crossword Solver, Words that starts with, Words Ending in, Words with, Palindrome Words Matching, Anagrams of, Words From Letters, Words In the Word, Words Matching Pattern,
Abstract 344: Chondroitin sulfatases regulate Wnt signaling through effects on Shp2, phospho-Erk1,2, c-Myc, and histone ...
Chondroitinsulfatases/therapeutic use. *Clinical Protocols. *Enzyme Replacement Therapy. *Humans. *Mucopolysaccharidosis IV/ ...
Chondroitinsulfatases. *GALNS protein, human. LinkOut - more resources. Full Text Sources. *BioMed Central ...
Chondroitinsulfatases. *GALNS protein, human. Grant support. *P20 RR020173/RR/NCRR NIH HHS/United States ...
Base Sequence , Chondroitinsulfatases , Genetics , Female , Genetic Testing , Methods , Humans , Molecular Sequence Data , ... Adult , Base Sequence , Child , Child, Preschool , Chondroitinsulfatases , Genetics , Female , Humans , Male , Molecular ... Amino Acid Sequence , Asian Continental Ancestry Group , Genetics , Base Sequence , Child , Chondroitinsulfatases , Chemistry ... Adolescent , Amino Acid Sequence , Asian Continental Ancestry Group , Genetics , Chondroitinsulfatases , Genetics , Metabolism ...
Humans , Candida/enzymology , Chondroitinsulfatases/biosynthesis , Hemolysin Proteins/biosynthesis , Hyaluronoglucosaminidase/ ...
Candida albicans/enzymology , Chondroitinsulfatases/metabolism , Hyaluronoglucosaminidase/metabolism , Phospholipases/ ...
Adult , Base Sequence , Child , Child, Preschool , Chondroitinsulfatases , Genetics , Female , Humans , Male , Molecular ...
Bacteria, Anaerobic/enzymology , beta-Lactamases/analysis , Chondroitinsulfatases/analysis , Deoxyribonucleases/analysis , ...
Bacteria, Anaerobic/enzymology , beta-Lactamases/analysis , Chondroitinsulfatases/analysis , Deoxyribonucleases/analysis , ...
Chondroitinsulfatases , Genetics , Metabolism , DNA Mutational Analysis , Female , Genotype , Haplotypes , Humans , Infant , ...
This study investigated the efficacy and tolerability of elosulfase alfa [BMN 110; BioMarin Pharmaceutical], administered weekly versus every other week, in
chI, Ch D, Ch B, CH, Online Electronic Medical Dictionary Terminology, Articles, Glossary

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