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Topic: Uridine monophosphate synthetase deficiency

	Publications
		Norberg, J., and Nilsson, L. Comment on "Free energy calculations for DNA base stacking by replica-exchange umbrella sampling" by Katsumi Murata, Yuji Sugita, Yuko Okamoto.
		Elofsson, A., and Nilsson, L. A 1.2 ns Molecular Dynamics Simulation of the Ribonuclease T-1-3'-Guanosine Monophosphate Complex.
		Norberg, J., and Nilsson, L. Potential of Mean Force Calculations of the Stacking Unstacking Process in Single-Stranded Deoxyribodinucleoside Monophosphates.
	www.biosci.ki.se /users/md/publications.html (2583 words)

	Encyclopedia (Site not responding. Last check: 2007-11-06)
		The purine nucleotide monophosphates are degraded to nucleosides by 5′-nucleotidase.
		Adenylosuccinase deficiency is associated with a secondary increase in purine nucleotide synthesis and/or a decrease in degradation.
		The pyrimidine nucleotide monophosphates are degraded to the nucleosides cytidine, uridine, and thymidine by 5′-nucleotidase.
	www.eamg-med.com /members/encyclopedia/11/11_4.shtml (8213 words)

	Uridine monophosphate synthetase (Site not responding. Last check: 2007-11-06)
		Uridine monophosphate synthetase is the enzyme that catalyses the formation of uridine monophosphate (UMP), an energy carrying molecule in many important biosynthetic pathways.
		In humans, the gene that codes for this enzyme is located on the long arm of chromosome 3 (3q13).
		Deficiency of this enzyme is an inherited autosomal recessive trait in Holstein cattle, and it will cause death before birth.
	www.encyclopedia-1.com /u/ur/uridine_monophosphate_synthetase.html (75 words)

	UMPS - Uridine 5'-monophosphate synthase
		Uridine monophosphate (UMP) synthase is a bifunctional enzyme catalyzing the last two steps of de novo pyrimidine biosynthesis, orotate phosphoribosyltransferase (OPRT) and orotidine-5'-monophosphate decarboxylase (ODC).
		Using this targeted cell fusion approach the nutritional markers, uridine monophosphate synthetase (UMPS), mapped onto human chromosome 3 (HSA3), phosphoribosylglycinamide synthetase, and phosphoribosylaminoimidazole synthetase (GART) (HSA21), are reported to be located on sheep chromosome 1q; and phosphoribosyl pyrophosphate amidotransferase (PPAT) (HSA4) has been assigned to sheep chromosome 6.
		Orotate phosphoribosyl transferase (OPRT), thymidine phosphorylase (TP), uridine phosphorylase (UP), dihydropyrimidine dehydrogenase (DPD), and thymidylate synthetase (TS) are enzymes which analyze the salvage synthesis within the biosynthesis of the nucleic acid route of colon cancer.
	www.pdg.cnb.uam.es /UniPub/iHOP/gg/93007.html (1585 words)

	thyA - (Site not responding. Last check: 2007-11-06)
		Isolation of the thymidylate synthetase gene (TMP1) by complementation in Saccharomyces cerevisiae.
		Chymotrypsin, trypsin, thymidine phosphorylase, uridine phosphorylase, thymidylate synthetase, cytosine nucleoside deaminase, dihydrofolate reductase, malate dehydrogenase, glutamate dehydrogenase, lactate dehydrogenase, and glyceraldehyde-phosphate dehydrogenase.
		The inducibility of the umuC gene by 5-FU, the metabolite of which inhibits thymidylate synthetase, was abolished in cultures containing deoxythymidine monophosphate which is converted from deoxyuridine monophosphate by thymidylate synthetase.
	www.pdg.cnb.uam.es /UniPub/iHOP/gg/172065.html (1385 words)

	UMPS - Uridine 5'-monophosphate synthase
		UMP synthase in extracts from deficient cells is more readily denatured by heat and is stabilized after growth of cells in 6-azauridine.
		The activities of orotate phosphoribosyltransferase (OPRT), cytidine triphosphate (CTP) synthetase, deoxycytidine monophosphate (dCMP) deaminase, thymidine monophosphate (dTMP) kinase, uridine (Urd) kinase, thymidine (dThd) kinase, Urd and dThd phosphorylases, and DNA polymerase were examined in the eight human lung squamous cell carcinomas and five lung adenocarcinomas, and five tumor-adjacent normal lung tissues.
		Monophosphates of both AZUrd and PF competitively inhibit orotidine-5'-monophosphate decarboxylase (ODCase) activity of the UMP synthase multifunctional enzyme.
	www.pdg.cnb.uam.es /UniPub/iHOP/gi/93007.html (2038 words)

	Disorders of Red Blood Cells - New Treatments, January 15, 2005
		AD deficiency has been associated with immune deficiency states and a 40 to 70 fold increased activity of the enzyme has been associated with chronic hemolytic anemia.
		The enzyme activity is measured by the decrease in optical density due to the conversion of adenosine to inosine at 265 nm.
		Deficiency of this enzyme causes a mild congenital hemolytic anemia associated with myopathy, neuropathy, spinocerebellar degeneration, and psychosis developing in early adulthood.
	www.ccspublishing.com /journals5a/rbc_disorders.htm (965 words)

	Games Fresh : Article 'Uridine' (Site not responding. Last check: 2007-11-06)
		Uridine is a molecule (known as a nucleoside) that is formed when uracil is attached to a ribose ring (also known as a ribofuranose) via a β-N1-glycosidic bond.
		Uridine monophosphate synthetase is the enzyme (EC 4.1.1.23 (http://www.expasy.org/cgi-bin/nicezyme.pl?4.1.1.23)) that catalyses the formation of uridine monophosphate (UMP), an energy carrying molecule in many important biosynthetic pathways.
		Uridine 5'-triphosphate is uridine esterified with triphosphoric acid at its 5'-position.
	www.games-fresh.net /DisplayArticle104347.html (230 words)

	Prevention and Therapy of Cancer: Glossary Letters T,U,V,W,X,Y & Z
		T cells - lymphocytes derived from the thymus gland that are characterized by the surface markers they express; function in secretion of proinflammatory mediators and cytotoxic response to cells containing foreign or altered membrane antigens, and in the augmentation or suppression of immune responses by secretion of specific helper or suppressor molecules.
		Thymidylate synthetase - enzyme that catalyzes the formation of thymidine monophosphate by methylation of uridine monophosphate; the methyl group by which uracil and thymine differ is obtained from 5,10-methylene tetrahydrofolate.
		Wilson's disease - hereditary disease due to a deficiency in ceruloplasmin causing a pathological increase in the copper content of all tissues, particularly in the brain and liver.
	www.gailsbooks.com /glossTZ.htm (4065 words)

	Purine and pyrimidine disorders (Site not responding. Last check: 2007-11-06)
		Genetic deficiencies of several other enzymes with no currently apparent clinical consequence have been identified, either in the erythrocytes of seemingly healthy subjects or during therapy with purine analogues, or investigation for another disorder [2].
		An example is the human erythrocyte, which lacks adenylosuccinate synthetase and thus cannot use synthesis or salvage to maintain its ATP levels, requiring adenosine for this [2].
		They comprise genetic deficiencies of uridine monophosphate synthase (UMPS), dihydropyrimidine dehydrogenase (DHPD), dihydropyrimidinase (DHPA) and uridine monophosphate hydrolase 1 (UMPH1); the genetic basis for CDP choline phosphotransferase (CDPC-P) deficiency is proposed but not proven [4].
	www.amg.gda.pl /~essppmm/ppd/ppd_intr.html (1140 words)

	Nucleotide Metabolism (Site not responding. Last check: 2007-11-06)
		treated by administering oral uridine, which is used by salvage pathways in preference to de-novo biosynthesis of pyrimidines.
		uridine and thymidine are catabolized to malonyl CoA and methylmalonyl CoA, respectively.
		Adenosine deaminase deficiency - crucial in degradation of adenine nucleotides.
	seqcore.brcf.med.umich.edu /mcb500/nucsyl/nucmetab.html (886 words)

	Purine and pyrimidine disorders (Site not responding. Last check: 2007-11-06)
		Genetic deficiencies of several other enzymes with no currently apparent clinical consequence have been identified, either in the erythrocytes of seemingly healthy subjects or during therapy with purine analogues, or investigation for another disorder [Stone and Simmonds, 1991].
		An example is the human erythrocyte, which lacks adenylosuccinate synthetase and thus cannot use synthesis or salvage to maintain its ATP levels, requiring adenosine for this [Stone and Simmonds, 1991].
		Additionally, XDH deficiency may be associated with myopathy, which is the presenting symptom in myoadenylate deaminase (AMPDA) deficiency.
	www.amg.gda.pl /~essppmm/disorders.html (1299 words)

	Uridine monophosphate synthetase - Wikipedia, the free encyclopedia
		Wikimedia needs your help in its 21-day fund drive.
		Uridine monophosphate synthetase is the enzyme (EC 4.1.1.23) that catalyses the formation of uridine monophosphate (UMP), an energy carrying molecule in many important biosynthetic pathways.
		This page was last modified 11:12, 1 July 2005.
	en.wikipedia.org /wiki/Uridine_monophosphate_synthetase (119 words)

	UMP synthase deficiency (Site not responding. Last check: 2007-11-06)
		UMP synthase deficiency news vertical portal can now be syndicated quickly and easily using our new Really Simple Syndication feeds.
		NtcA represses transcription of gifA and gifB, genes that encode inhibitors of glutamine synthetase andhellip;
		For any further understanding that could lead to the prevention, treatment, and/or cure of the disorders, we recommend that affected individuals seek the advice or counsel of his or her own personal physician(s).
	ump-synthase-deficiency.diseasemap.com (441 words)

	[No title]
		If vitamin B12 is deficient, then all the folate in the body will eventually become trapped as N5-methyl THF whose sole purpose is to participate in the creation of s-adenosylmethionine.
		The UTP -> CTP reaction is catalyzed by CTP synthetase, and is a one-way reaction.
		Regulation of pyrimidine biosynthesis CPS II is the major point of regulation; it is inhibited by pyrmidine di- and triphosphates, and is stimulated by ATP and PRPP.
	www-personal.umich.edu /~spark/notes/M1/mcb/20011113-mcb.doc (2183 words)

	Glossary
		In glutamine metabolism, by contrast, the activity of its key enzyme, glutamine synthetase, is regulated by the two systems of interconvertible enzyme cycles, which are tightly linked.
		coli, the activity of glutamine synthetase is regulated by both feedback inhibition and the bicyclic cascade system, which makes it extremely responsive to the cell's nitrogen requirements.
		The most distinctive clinical feature of dietary selenium deficiency is myopathy, a disorder of muscle tissue.
	history.nih.gov /exhibits/stadtman/glossary.htm (2196 words)

	Hereditary orotic aciduria (Site not responding. Last check: 2007-11-06)
		CP may be synthesised by CP synthetase 1 (CPS 1), an enzyme present in the mitochrondria, which is essential for the urea cycle and confined almost exclusively to the liver, with low activity in kidney, intestinal mucosa and leucocytes.
		CP may also be synthesised by CPS 2, a cytosolic enzyme widely distributed throughout the body which forms a multienzyme complex with the next two enzymes of pyrimidine biosynthesis, and is subject to complex feedback regulatory processes (Fig.
		Qumsiyeh MB, Valentine MB, Suttle DP 1989 Localisation of the gene for uridine monophosphate synthase to human chromosome region 3q13 by in situ hybridization.
	www.amg.gda.pl /~essppmm/ppd/ppd_py_umps.html (1448 words)

	Human protein: P11172 - Uridine 5'-monophosphate synthase (UMP synthase) [Includes: Orotate phosphoribosyltransferase ...
		Upstream genomic sequence for Uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase)
		Uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase) (UMPS)
		Uridine 5'-monophosphate synthase (UMP synthase) [Includes: Orotate phosphoribosyltransferase (EC 2.4.2.10) (OPRtase); Orotidine 5'- phosphate decarboxylase (EC 4.1.1.23) (OMPdecase)].
	harvester.embl.de /harvester/P111/P11172.htm (1180 words)

	Bovine Infert
		DUMPS (Deficiency of Uridine MonoPhosphate Synthetase) Holstein) which is an autosomal recessive gene that results in fetal death in first 2 months gestation.
		A reported XXX karyotype is associated with infertility in Holsteins.
		Vit D deficiency suppresses signs of estrus and delays ovulation.
	www.vetmed.lsu.edu /eiltslotus/Theriogenology-5361/bovine_infert.htm (1058 words)

	[No title]
		uridine monophosphate kinase.UK; UMK; UCK2; TSA903.uridine monophosphate kinase.
		IMP (inosine monophosphate) dehydrogenase 2.IMPD2.IMP (inosine monophosphate) dehydrogenase 2.
		SCO cytochrome oxidase deficient homolog 2 (yeast).SCO1L.cytochrome oxidase deficient homolog 2.
	robotics.stanford.edu /~erans/cancer/lists/module_538_full_genes.html (3767 words)

	Animal Sciences: About Us: Faculty & Staff: Details
		Incidence and inheritance of deficiency for uridine monophosphate
		Embryonic mortality attributed to inherited deficiency of uridine
		Deficiency of uridine monophosphate synthase among Holstein cattle.
	www.ansci.uiuc.edu /aboutus/faculty/details.cfm?ID=25 (1027 words)

	[No title]
		IMAGE:273546 (92%) [IMAGE:273546: 103802 PAICS phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase Hs.117950 N33274 ADE2H1 encoding SAICAR synthetase and AIR carboxylase of the 10606 ] 11.
		IMAGE:344243 (87%) [IMAGE:344243: 107148 UMPK uridine monophosphate kinase Hs.95734 W69906 7371 ] 33.
		IMAGE:760344 (77%) [IMAGE:760344: 99585 UMPS uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase) Hs.2057 AA426227 7372 ] 145.
	barkai-serv.weizmann.ac.il /ComparativeAnalysis/HomologueModules/refined_modules_4,6.txt (4554 words)

	Top HSPs
		IMP (inosine monophosphate) dehydrogenase 2; IMP (inosine 4 gbAAA35750.1
		uridine monophosphate synthetase [Mus musculus] 2 refNP_007231.1COX3_10587 cytochrome c oxidase subunit III [Rattus norvegicus] 2 refXP_232073.1
		phosphoribosyl pyrophosphate synthetase 1 [Homo sapiens] 1 refNP_004447.2
	enterprise.bio.tamu.edu /rat2003_0320to0610/rat2003_0320to0610_freq.html (13299 words)

	Dr. Mazin Qumsiyeh
		Localization of the gene for uridine monophosphate synthase to human chromosome region 3q13 by in situ hybridization.
		Localization of the adenosine deaminase, transferrin, and UMP synthetase genes on Chinese hamster chromosomes 4 and 6 by
		Unconjugated estriol as an indication for prenatal diagnosis of steroid sulfatase deficiency by in situ hybridization.
	www.wildlife-pal.org /dr__mazin_qumsiyeh.htm (2275 words)

	[No title]
		An inborn error of pyrimidine metabolism characterized by an enzyme deficiency resulting in hematological and neurological manifestations.
		Type II- deficiency of the OMP-DC portion of UMP synthetase
		deficiency of orotidylic acid pyrophosphorylase and/or decarboxylase activities in leukocytes, erythrocytes, hepatic cells and cultured skin fibroblasts
	www.mednote.co.kr /Ped-Dic/OROTIC%20ACIDURIA.htm (143 words)

	[No title] (Site not responding. Last check: 2007-11-06)
		1.511220031q21-q23APOA2CApolipoprotein A-II107670REa, A, Fd, REApolipoprotein A-II deficiency (3); Hypercholesterolemia, familial,modification of, 143890 (3)

		61982p23.3POMCCProopiomelanocortin (adrenocorticotropin/beta-lipotropin)176830REa, AACTH deficiency (1); Obesity, adrenal insufficiency, and redhair (3)

		516032p21-p16.3MCFD2PMultiple coagulation factor deficiency protein 2607788REcFactor V and factor VIII, combined deficiency of, 227300 (3)
	www.infobiogen.fr /db/omim/genemap (7012 words)

	Articles - List of rare diseases/Uridine monophosphate synthetase deficiency (Site not responding. Last check: 2007-11-06)
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	www.mainearth.com /articles/List_of_rare_diseases/Uridine_monophosphate_synthetase_deficiency (170 words)

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