Phosphoenolpyruvate synthase elisa and antibody
Shop Phosphoenolpyruvate synthase ELISA Kit, Recombinant Protein and Phosphoenolpyruvate synthase Antibody at MyBioSource. Custom ELISA Kit, Recombinant Protein and Antibody are available.
Inositol polyphosphate multikinase mediates extinction of fear memory<...
TY - JOUR. T1 - Inositol polyphosphate multikinase mediates extinction of fear memory. AU - Park, Jina. AU - Longo, Francesco. AU - Park, Seung Ju. AU - Lee, Seulgi. AU - Bae, Mihyun. AU - Tyagi, Richa. AU - Han, Jin Hee. AU - Kim, Seyun. AU - Santini, Emanuela. AU - Klann, Eric. AU - Snyder, Solomon H. PY - 2019/2/12. Y1 - 2019/2/12. N2 - Inositol polyphosphate multikinase (IPMK), the key enzyme for the biosynthesis of higher inositol polyphosphates and phosphatidylinositol 3,4,5-trisphosphate, also acts as a versatile signaling player in regulating tissue growth and metabolism. To elucidate neurobehavioral functions of IPMK, we generated mice in which IPMK was deleted from the excitatory neurons of the postnatal forebrain. These mice showed no deficits in either novel object recognition or spatial memory. IPMK conditional knockout mice formed cued fear memory normally but displayed enhanced fear extinction. Signaling analyses revealed dysregulated expression of neural genes accompanied by ...
Carbohydrate-deficient glycoprotein syndrome 1b: a new answer to an old diagnostic dilemma
A patient with carbohydrate-deficient glycoprotein syndrome type 1b (CDGS1b) is reported. The patient presented at 5 months of age with failure to thrive, prolonged diarrhoea, hepatomegaly and elevated serum liver transaminases. Liver biopsy showed steatosis. A low serum albumin and elevated serum liver transaminases persisted throughout childhood during which he had repeated infectious illnesses. From the age of 10 years he had oesophageal and duodenal ulceration together with recurrent bacterial cholangitis. Liver biopsy demonstrated hepatic fibrosis. CDGS1b was suspected, supported by the finding of a protein-losing enteropathy and finally confirmed by showing a reduced phosphomannoseisomerase activity. This case illustrates a rare condition with a wide range of presentations. [on SciFinder (R)]
Kelly, D. F.; Boneh, A.; Pitsch, S.; Gold, H.; Fietz, M.; Nelson, P.; Oliver, M. R.
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration. | IRIS Università...
Pantothenate kinase-associated neurodegeneration is a form of neurodegeneration with brain iron accumulation, characterized by a progressive movement disorder and prominent iron deposition in the globus pallidus. Formerly referred to as Hallervorden-Spatz syndrome, the disorder was renamed pantothenate kinase-associated neurodegeneration after discovery of the causative gene, PANK2. Although the pathological features of clinically characterized Hallervorden-Spatz syndrome have been described, the literature is confounded by the historical use of this term for nearly all conditions with prominent basal ganglia iron accumulation and by the fact that this term encompasses a genetically heterogeneous group of disorders, now referred to as 'neurodegeneration with brain iron accumulation'. As a result, interpreting reports that precede molecular characterization of specific forms of neurodegeneration with brain iron accumulation is problematic. In the present studies, we describe neuropathological ...
EC 2.7.8.1
Accepted name: ethanolaminephosphotransferase. Reaction: CDP-ethanolamine + 1,2-diacyl-sn-glycerol = CMP + a phosphatidylethanolamine. Other name(s): EPT; diacylglycerol ethanolaminephosphotransferase; CDPethanolamine diglyceride phosphotransferase; phosphorylethanolamine-glyceride transferase; CDP-ethanolamine:1,2-diacylglycerol ethanolaminephosphotransferase. Systematic name: CDP-ethanolamine:1,2-diacyl-sn-glycerol ethanolaminephosphotransferase. Links to other databases: BRENDA, EXPASY, KEGG, Metacyc, CAS registry number: 9026-19-1. References:. 1. Kennedy, E.P. and Weiss, S.B. The function of cytidine coenzymes in the biosynthesis of phospholipides. J. Biol. Chem. 222 (1956) 193-214.. ...
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment | Orphanet Journal of Rare Diseases | Full Text
Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation of drug candidates will require a standardized score of cerebellar dysfunction. We aim to assess the validity of the International Cooperative Ataxia Rating Scale (ICARS) in children and adolescents with genetically confirmed PMM2-CDG deficiency. We compare ICARS results with the Nijmegen Pediatric CDG Rating Scale (NPCRS), neuroimaging, intelligence quotient (IQ) and molecular data. Our observational study included 13 PMM2-CDG patients and 21 control subjects. Ethical permissions and informed consents were obtained. Three independent child neurologists rated PMM2-CDG patients and control subjects using the ICARS. A single clinician administered the NPCRS
Development of protocol for Agrobacterium Tumefaciens mediated transformation of cocoa (Theobroma cacao) - UMS INSTITUTIONAL...
This research describes the optimization of parameters (including pH, temperature, period of co-cultivation and age of callus) for Agrobacterium tumefaciens-mediated genetic transformation of Theobroma cacao L. using staminodes from cocoa buds as explants. The A. tumefaciens strain used was the super avirulent AGLl with the binary vector pGPTV-Kan/Gus. The strain confers aminoglycoside resistance to transformed cells through the neomycin phosphotransferase II (nptII) gene. Callus induction medium contained DKW minerals, glucose, vitamins, 2 mg/L 2,4D and 0.005 mg/L TDZ (0.5nM) pH 5.3. Co-cultivation medium was identical to callus induction medium but contained 0.02mg/L acetosyringone. Experiments were conducted using two clones of cocoa: KKM19 and P22. Staminodes were cultured on callus induction medium in the dark before the transformation process. After 14 days and 21 days on callus induction medium, callus-derived staminodes were co-cultivated with A. tumefaciens on semi-solid co-cultivation ...
Development of Transgenic Tall Fescue Plants from Mature Seed-derived Callus via Agrobacterium-mediated Transformation ...
We have achieved efficient transformation system for forage-type tall fescue plants by Agrobacterium tumefaciens. Mature seed-derived embryogenic calli were infected and co-cultivated with each of three A. tumefaciens strains, all of which harbored a standard binary vector pIG121Hm encoding the neomycin phosphotransferase II (NPTII), hygromycin phosphotransferase (HPT) and intron-containing |TEX|$\beta$|/TEX|-glucuronidase (intron-GUS) genes in the T-DNA region. Transformation efficiency was influenced by the A. tumefaciens strain, addition of the phenolic compound acetosyringone and duration of vacuum treatment. Of the three A. tumefaciens strains tested, EHA101/pIG121Hm was found to be most effective followed by GV3101/pIG121Hm and LBA4404/pIG121Hm for transient GUS expression after 3 days co-cultivation. Inclusion of 100 |TEX|$\mu$|/TEX|M acetosyringone in both the inoculation and co-cultivation media lead to an improvement in transient GUS expression observed in targeted calli. Vacuum treatment
The analysis of starch degradation in Solanaceae species
ENGLISH ABSTRACT: This project involved the analysis of genes in Solanaceae species that have previously been shown to be involved in the phosphorylation of starch or its subsequent dephosphorylation. Both these processes are essential for normal starch mobilization. A tomato conditional mutant lacking the starch phosphorylating enzyme glucan water dikinase was analyzed. It is known that starch accumulates transiently in tomato fruit and is degraded throughout the ripening process. The study aimed to determine the effect of inhibited starch degradation on fruit development. Unfortunately no effect on starch mobilisation was found in the fruit of the mutant. Immunoblot analysis revealed expression of Glucan Water Dikinase (GWD) within the fruit of the tomato mutant indicating that the conditionality of the mutation was compromised. The second set of experiments analyzed the roles of Starch Excess4 (SEX4), Like Sex Four-1 and Like Sex Four-2 (LSF1 and LSF2) in starch degradation in potato and ...
PROSITE
Inteins (for INternal proTEINs) are protein insertion sequences that are embedded in host protein sequences. They are post-translationally excised from the host protein by a self-catalytic protein splicing process, in which the intein sequence is precisely excised, and the flanking host protein sequences (N- and C-exteins) are religated to create a functional protein. Intein and protein splicing may be viewed as the protein equivalent of intron and RNA splicing, respectively. Inteins were initially discovered as translated intervening sequences that were present in the host gene but absent in homologous genes. Inteins occur in organisms spanning all three kingdoms of life (eubacteria, archaea and eukaryote). Although many inteins are in host proteins involved in nucleic acid metabolism, several inteins are located in metabolic enzymes, such as phosphoenolpyruvate synthase, anaerobic ribonucleoside triphosphate reductase, UDP-glucose dehydrogenase, ClpP protease/chaperone, vacuolar ATPase proton ...
Mevalonate kinase deficiency - Genetics Home Reference - NIH
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often.. Mevalonate kinase deficiency has additional signs and symptoms, and the severity depends on the type of the condition. There are two types of mevalonate kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA).. During episodes of fever, people with HIDS typically have enlargement of the lymph nodes (lymphadenopathy), abdominal pain, joint pain, diarrhea, skin rashes, and headache. Occasionally they will have painful sores called aphthous ulcers around their mouth. In females, these may also occur around the vagina. ...
ATTI - Overview: Antithrombin Antigen, Plasma
ATTI : Assessing abnormal results of the antithrombin activity assay (ATTF / Antithrombin Activity, Plasma), which is recommended as the primary (screening) antithrombin assay Diagnosing antithrombin deficiency, acquired or congenital, in conjunction with measurement of antithrombin activity An adjunct in the diagnosis and management of carbohydrate-deficient glycoprotein syndromes
PLANTS AND SEEDS OF HYBRID CORN VARIETY CH939369 - Patent application
0159] Resistance genes for glyphosate (resistance conferred by mutant 5-enolpyruvl-3 phosphikimate synthase (EPSP) and aroA genes, respectively), and hygromycin B phosphotransferase, and to other phosphono compounds such as glufosinate (phosphinothricin acetyl transferase (PAT) and Streptomyces hygroscopicus phosphinothricin-acetyl transferase (bar) genes) may also be used. See, for example, U.S. Pat. No. 4,940,835 to Shah, et al., which discloses the nucleotide sequence of a form of EPSPS which can confer glyphosate resistance. A DNA molecule encoding a mutant aroA gene can be obtained under ATCC accession number 39256, and the nucleotide sequence of the mutant gene is disclosed in U.S. Pat. No. 4,769,061 to Comai. A hygromycin B phosphotransferase gene from E. coli that confers resistance to glyphosate in tobacco callus and plants is described in Penaloza-Vazquez et al. (Plant Cell Reports, 14:482-487, 1995). European patent application No. 0 333 033 to Kumada et al., and U.S. Pat. No. ...
Herpes Simplex Virus Specified Deoxypyrimidine Kinase and the Uptake of Exogenous Nucleosides by Infected Cells | Microbiology...
Summary
Herpes simplex virus can confer to thymidine kinaseless cells the ability to incorporate exogenously supplied thymidine into acid precipitable material. However no incorporation of exogenously supplied deoxycytidine into acid precipitable material can be detected after infection of deoxycytidine kinaseless cells by herpes simplex virus.
This failure to incorporate exogenous deoxycytidine is not due to the failure of the deoxycytidine phosphorylating activity of the virus induced deoxypyrimidine kinase but to a block in the metabolism of deoxycytidine monophosphate in herpes simplex virus infected cells. This block becomes evident with the appearance of the virus induced deoxypyrimidine kinase activity.
Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes | Biochemical...
NBIA (neurodegeneration with brain iron accumulation) comprises a heterogeneous group of neurodegenerative diseases having as a common denominator, iron overload in specific brain areas, mainly basal ganglia and globus pallidus. In the past decade a bunch of disease genes have been identified, but NBIA pathomechanisms are still not completely clear. PKAN (pantothenate kinase-associated neurodegeneration), an autosomal recessive disorder with progressive impairment of movement, vision and cognition, is the most common form of NBIA. It is caused by mutations in the PANK2 (pantothenate kinase 2) gene, coding for a mitochondrial enzyme that phosphorylates vitamin B5 in the first reaction of the CoA (coenzyme A) biosynthetic pathway. A distinct form of NBIA, denominated CoPAN (CoA synthase protein-associated neurodegeneration), is caused by mutations in the CoASY (CoA synthase) gene coding for a bifunctional mitochondrial enzyme, which catalyses the final steps of CoA biosynthesis. These two inborn ...
Mevalonate kinase deficiency: current perspectives - Semantic Scholar
Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of manifestations, including the well-defined clinical phenotypes of hyperimmunoglobulinemia D and periodic fever syndrome and mevalonic aciduria. Patients with MKD have recurrent attacks of hyperinflammation associated with fever, abdominal pain, arthralgias, and mucocutaneous lesions, and more severely affected patients also have dysmorphisms and central nervous system anomalies. MKD is caused by mutations in the gene encoding mevalonate kinase, with the degree of residual enzyme activity largely determining disease severity. Mevalonate kinase is essential for the biosynthesis of nonsterol isoprenoids, which mediate protein prenylation. Although the precise pathogenesis of MKD remains unclear, increasing evidence suggests that deficiency in protein prenylation leads to innate immune activation and systemic hyperinflammation. Given the emerging understanding of MKD as an autoinflammatory disorder,
Carbohydrate-Deficient Transferrin (CDT) during 2 to 3 weeks of Alcohol Misuse in Men and Women and its Significance in View...
Allen JP, Litten RZ, Anton RF, Cross GM: Carbohydrate-deficient transferrin as a measure of immoderate drinking: Remaining issues. Alcohol Clin Exp Res 18,799-812 (1994). Anton RF, Moak DH: Carbohydrate-deficient transferrin and -glutamyltransferase as markers of heavy alcohol consumption. Alcohol Clin Exp Res 18/3,747-754 (1994). Anton R, Bean P: Two methods for measuring carbohydrate-deficient transferrin in inpatient alcoholics and healthy controls compared. Clin Chem 40/3,364-368 (1994). Arndt T, Gressner AM, Kropf J: Labordiagnostik und Kontrolle des Alkoholabusus. Med Welt 45,247-257 (1994). Behrens U, Worner TM, Braly LF et al: Carbohydrate-deficient Transferrin, a Marker for Chronic Alcohol Consumption in Different Ethnic Populations. Alcohol Clin Exp Res 12,427-432 (1988). Behrens UJ, Worner TM, Lieber CS: Changes in Carbohydrate-Deficient Transferrin levels after alcohol withdrawal. Alcohol Clin Exp Res 12,539-542 (1988). Bell H, Tallaksen C, Sjahem T, Weberg R et al: Serum ...
Hereditary erythrocyte adenylate kinase deficiency: A defect of multiple phosphotransferases?<...
TY - JOUR. T1 - Hereditary erythrocyte adenylate kinase deficiency. T2 - A defect of multiple phosphotransferases?. AU - Lachant, N. A.. AU - Zerez, C. R.. AU - Barredo, J.. AU - Lee, D. W.. AU - Savely, S. M.. AU - Tanaka, K. R.. PY - 1991. Y1 - 1991. N2 - Adenylate kinase (AK) modulates the interconversion of adenine nucleotides (AMP + adenosine triphosphate → 2 ADP). We evaluated the fifth kindred with hereditary erythrocyte (RBC) AK deficiency. The proband had chronic hemolytic anemia. Her RBC had undetectable AK activity when measured spectrophotometrically, whereas those of her parents had half-normal AK activity. AK electrophoresis showed only AK-1 in the parents. The activities of pyruvate kinase and phosphoribosylpyrophosphate synthetase were decreased given the young age of the proband's RBC. Despite the absence of spectrophotometric AK activity, the proband's RBC were able to incorporate 14C-adenine into 14C-adenine nucleotides at 50% of the rate expected for her young RBC ...
Frequency of 16S rRNA Methylase and Aminoglycoside-Modifying Enzyme Genes among Clinical Isolates of Acinetobacter baumannii in...
Background & objective: Multidrug-resistant Acinetobacter baumannii (MDR-AB) is an important nosocomial pathogen which is associated with significant morbidity and mortality, particularly in high-risk populations. Aminoglycoside-modifying enzymes (AMEs) and 16S ribosomal RNA (16S rRNA) methylation are two important mechanisms of resistance to aminoglycosides. The aim of this study was to determine the prevalence of 16S rRNA methylase (armA, rmtA, rmtB, rmtC, and rmtD), and the AME genes [aac(6′)-Ib, aac(3)-I, ant(3′′)-I, aph(3′)-I and aac(6')-Id], among clinical isolates of A. baumannii in Tehran, Iran. Methods: Between November 2015 to July 2016, a total of 110 clinical strains of A. baumannii were isolated from patients in two teaching hospitals in Tehran, Iran. Antimicrobial susceptibility testing was performed according to Clinical and Laboratory Standards Institute guidelines. The presence of genes encoding the AMEs and16S rRNA methylases responsible for resis-tance was investigated by
Nutritional therapies in congenital disorders of glycosylation (CDG)<...
TY - JOUR. T1 - Nutritional therapies in congenital disorders of glycosylation (CDG). AU - Witters, Peter. AU - Cassiman, David. AU - Morava-Kozicz, Eva. PY - 2017/11/1. Y1 - 2017/11/1. N2 - Congenital disorders of glycosylation (CDG) are a group of more than 130 inborn errors of metabolism affecting N-linked, O-linked protein and lipid-linked glycosylation. The phenotype in CDG patients includes frequent liver involvement, especially the disorders belonging to the N-linked protein glycosylation group. There are only a few treatable CDG. Mannose-Phosphate Isomerase (MPI)-CDG was the first treatable CDG by high dose mannose supplements. Recently, with the successful use of D-galactose in Phosphoglucomutase 1 (PGM1)-CDG, other CDG types have been trialed on galactose and with an increasing number of potential nutritional therapies. Current mini review focuses on therapies in glycosylation disorders affecting liver function and dietary intervention in general in N-linked glycosylation disorders. We ...
A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early...
Patients with Congenital Disorders of Glycosylation (CDG) have recessive mutations in genes required for protein N-glycosylation, resulting in multi-systemic disease. Despite the well-characterized biochemical consequences in these patients, the underlying cellular defects that contribute to CDG are not well-understood. Synthesis of the lipid-linked oligosaccharide (LLO), which serves as the sugar donor for the N-glycosylation of secretory proteins, requires conversion of fructose-6-phosphate to mannose-6-phosphate via the phosphomannose isomerase (MPI) enzyme. Patients deficient in MPI present with bleeding, diarrhea, edema, gastrointestinal bleeding, and liver fibrosis. MPI-CDG patients can be treated with oral mannose supplements, which is converted to mannose-6-phosphate through a minor complementary metabolic pathway, restoring protein glycosylation and ameliorating most symptoms, although liver disease continues to progress. Since Mpi deletion in mice causes early embryonic lethality and ...
Diacylglycerol cholinephosphotransferase - Wikipedia
In enzymology, a diacylglycerol cholinephosphotransferase (EC 2.7.8.2) is an enzyme that catalyzes the chemical reaction CDP-choline + 1,2-diacylglycerol ⇌ {\displaystyle \rightleftharpoons } CMP + a phosphatidylcholine Thus, the two substrates of this enzyme are CDP-choline and 1,2-diacylglycerol, whereas its two products are CMP and phosphatidylcholine. This enzyme belongs to the family of transferases, specifically those transferring non-standard substituted phosphate groups. The systematic name of this enzyme class is CDP choline:1,2-diacylglycerol cholinephosphotransferase. Other names in common use include: 1-alkyl-2-acetyl-m-glycerol:CDPcholine choline phosphotransferase, 1-alkyl-2-acetyl-sn-glycerol cholinephosphotransferase, 1-alkyl-2-acetylglycerol cholinephosphotransferase, alkylacylglycerol choline phosphotransferase, alkylacylglycerol cholinephosphotransferase, CDP-choline diglyceride phosphotransferase, cholinephosphotransferase, CPT, cytidine diphosphocholine glyceride ...
Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency - Research...
Coenzyme A is an essential metabolite known for its central role in over one hundred cellular metabolic reactions. In cells, Coenzyme A is synthesized de novo in five enzymatic steps with vitamin B5 as the starting metabolite, phosphorylated by pantothenate kinase. Mutations in the pantothenate kinase 2 gene cause a severe form of neurodegeneration for which no treatment is available. One therapeutic strategy is to generate Coenzyme A precursors downstream of the defective step in the pathway. Here we describe the synthesis, characteristics and in vivo rescue potential of the acetyl-Coenzyme A precursor S-acetyl-4'-phosphopantetheine as a possible treatment for neurodegeneration associated with pantothenate kinase deficiency. ...
selenophosphate synthetase Summary Report | CureHunter
selenophosphate synthetase: involved in selenium metabolism; gamma-phosphate of ATP is transferred to HSe resulting in formation of monoselenophosphate; amino acid sequence in first source
Neurodegeneration with brain iron accumulation | definition of neurodegeneration with brain iron accumulation by Medical...
Looking for online definition of neurodegeneration with brain iron accumulation in the Medical Dictionary? neurodegeneration with brain iron accumulation explanation free. What is neurodegeneration with brain iron accumulation? Meaning of neurodegeneration with brain iron accumulation medical term. What does neurodegeneration with brain iron accumulation mean?
Low-temperature effects on docosahexaenoic acid biosynthesis in Schizochytrium sp. TIO01 and its proposed underlying mechanism ...
Schizochytrium species are known for their abundant production of docosahexaenoic acid (DHA). Low temperatures can promote the biosynthesis of polyunsaturated fatty acids (PUFAs) in many species. This study investigates low-temperature effects on DHA biosynthesis in Schizochytrium sp. TIO01 and its underlying mechanism. The Schizochytrium fatty acid biosynthesis pathway was evaluated based on de novo genome assembly (contig N50 = 2.86 Mb) and iTRAQ-based protein identification. Our findings revealed that desaturases, involved in DHA synthesis via the fatty acid synthase (FAS) pathway, were completely absent. The polyketide synthase (PKS) pathway and the FAS pathway are, respectively, responsible for DHA and saturated fatty acid synthesis in Schizochytrium. Analysis of fatty acid composition profiles indicates that low temperature has a significant impact on the production of DHA in Schizochytrium, increasing the DHA content from 43 to 65% of total fatty acids. However, the expression levels of PKS
Affinity purification of 5-methylthioribose kinase and 5-methylthioadenosine/S-adenosylhomocysteine nucleosidase from...
Two enzymes in the methionine salvage pathway, 5-methylthioribose kinase (MTR kinase) and 5´-methylthioadenosine/S-adenosylhomocysteine nucleosidase (MTA/SAH nucleosidase) were purified from Klebsiellapneumoniae. Chromatography using a novel 5´-(p-aminophenyl)thioadenosine/5-(p-aminophenyl)thioribose affinity matrix allowed the binding and selective elution of each of the enzymes in pure form. The molecular mass, substrate kinetics and N-terminal amino acid sequences were characterized for each of the enzymes. Purified MTR kinase exhibits an apparent molecular mass of 46-50 kDa by SDS/PAGE and S200HR chromatography, and has a Km for MTR of 12.2 μM. Homogeneous MTA/SAH nucleosidase displays a molecular mass of 26.5 kDa by SDS/PAGE, and a Km for MTA of 8.7 μM. Comparisons of the N-terminal sequences obtained for each of the enzymes with protein-sequence databases failed to reveal any significant sequence similarities to known proteins. However, the amino acid sequence obtained for the ...
PDF] The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body...
Hereditary inclusion body myopathy (HIBM; OMIM 600737) is a unique group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. The autosomal recessive form described in Jews of Persian descent is the HIBM prototype. This myopathy affects mainly leg muscles, but with an unusual distribution that spares the quadriceps. This particular pattern of weakness distribution, termed quadriceps-sparing myopathy (QSM), was later found in Jews originating from other Middle Eastern countries as well as in non-Jews. We previously localized the gene causing HIBM in Middle Eastern Jews on chromosome 9p12-13 (ref. 5) within a genomic interval of about 700 kb (ref. 6). Haplotype analysis around the HIBM gene region of 104 affected people from 47 Middle Eastern families indicates one unique ancestral founder chromosome in this community. By contrast, single non-Jewish families from India,
Comparative secretome analysis of Trichoderma asperellum S4F8 and Trichoderma reesei Rut C30 during solid-state fermentation on...
Clear differences in the number and nature of GH proteins secreted by S4F8 and Rut C30 were evident, with S4F8 expressing a larger range of GH families (32 versus 24 GH families in S4F8 and Rut C30, respectively), and more protein representatives per GH family (Figure 3). More proteins belonging to GH families 3 (β-glucosidase/β-xylosidase), 5 (various), 11 (endoxylanase), 16 (transglycosylase and glucanosyltransferase), 28 (polygalacturonase), 31 (α-glucosidase/α-xylosidase), 62 (α-L/N-arabinofuranosidase), 72 (glucanosyltransglycosylase) and 92 (mannosidase) were detected for S4F8. Representatives of GH families 10 (endoxylanase), 12 (endoglucanase), 15 (starch-related), 17 (glucan 1,3-β-glucosidase), 18 (chitinase), 43 (xylosidase), 47 (α-mannosidase), 79 (glucoronidase), 93 (exo-arabinase) and 95 (fucosidase) were unique to S4F8, whereas only representatives of GH families 30 (β-glucocerebrosidase) and 61 (endoglucanases, recently reclassified as copper-dependent lytic monooxygenases ...
Characterization of glycerol uptake and glycerol kinase activity in rat hepatocytes cultured under different hormonal...
Glycerol uptake and glycerol kinase activity were studied in primary cultures of rat hepatocytes in the presence of either 1 nM insulin, 1 nM glucagon, or 100 nM dexamethasone, alone or in combination in
Geneticin/Kanamycin; interchangeable?
In article ,Pine.SOL.3.96.970711115134.16570A-100000 at ascc.artsci.wustl.edu,, Alex Brands ,abbrands at artsci.wustl.edu, wrote: , I was planning to use kanamycin resistance as a selectable marker in , yeast, and I aquired a construct from another lab that has a kanamycin , resistance cassette. However, my negative control plates revealed that , the parent yeast (w303) was not sensitive to the kanamycin. After talking , to the other lab, I found out that they use something called Geneticin, , (that name is a registered trademark of GIBCO) which is about 20 times , more expensive than kanamycin. , , So, is my kanamycin simply expired, or are yeast not sensitive to , kanamycin? Am I stuck with Geneticin? , , , All help is appreciated very much! , , Alex Brands , Washington University Sorry, you're stuck with the Geneticin (also known as G418). Although the kanamycin resistance factor inactivates both kanamycin and G418, only the latter antibiotic is effective against eukaryotic cells. Steve ...
Gambian in Western Division - Mandinka [GWD]
Population Description. These cell lines and DNA samples were prepared from blood samples collected in the Western District of Gambia from individuals who identified themselves as Mandinka. All parents in the trios identified themselves as having Mandinka parents of at least two generations.. Referring to Populations. It is important to include a reference to the "Mandinka in Western Division of Gambia" when describing the source of these samples. This reinforces the point that the sample set, while not genetically "atypical", does not necessarily represent all Mandinka people or all Gambian people, whose population history is complex. The population should not be described merely as "African", "Sub-Saharan African", "West African", or "Gambian", since each of those designators encompasses many populations with different geographic ancestries.. The full population descriptor is Gambian in Western Division - Mandinka. The shorthand label is Gambian Mandinka and the abbreviation is GWD.. It may be ...
Congenital disorder of glycosylation type IIc - Wikipedia
Congenital disorder of glycosylation type IIc or Leukocyte adhesion deficiency-2 (LAD2) is a type of leukocyte adhesion deficiency attributable to the absence of neutrophil sialyl-LewisX, a ligand of P- and E-selectin on vascular endothelium. It is associated with SLC35C1. This disorder was discovered in two unrelated Israeli boys 3 and 5 years of age, each the offspring of consanguineous parents. Both had severe mental retardation, short stature, a distinctive facial appearance, and the Bombay (hh) blood phenotype, and both were secretor- and Lewis-negative. They both had had recurrent severe bacterial infections similar to those seen in patients with LAD1, including pneumonia, peridontitis, otitis media, and localized cellulitis. Similar to that in patients with LAD1, their infections were accompanied by pronounced leukocytosis (30,000 to 150,000/mm3) but an absence of pus formation at sites of recurrent cellulitis. In vitro studies revealed a pronounced defect in neutrophil motility. Because ...
A few amino acid substitutions can convert deoxyribonucleoside kinase specificity from pyrimidines to purines | The EMBO Journal
Deoxyribonucleoside kinases catalyze the phosphorylation of deoxyribonucleosides to the corresponding deoxyribonucleoside monophosphates (dNMPs). They are the key enzymes in the salvage of deoxyribonucleosides originating from extra‐ or intracellular breakdown of DNA. Subsequently, dNMPs are phosphorylated into diphosphates (dNDPs) and triphosphates (dNTPs), which are the precursors of DNA. Deoxyribonucleoside kinases play a key role in the chemotherapeutic treatment of cancer and viral diseases, as they catalyze the first, and often rate‐limiting step of nucleoside analog activation by phosphorylation (Arnér and Eriksson, 1995). Native and genetically engineered deoxyribonucleoside kinases from different organisms are also attractive candidates for use in cancer gene therapy as suicide enzymes (Christians et al., 1999; Kokoris et al., 1999; Knecht et al., 2000a; Zheng et al., 2000). The basic concept here is to transduce cancer or virus‐infected cells with a gene encoding a ...
The increase of adenylate kinase activity in the blood can control aggregation of platelets in coronary or peripheral arterial...
Activation and aggregation of blood platelets is crucial for hemostasis and thrombosis. In the vascular system adenine nucleotides are important signaling molecules playing a key role in hemostasis. ADP was the first low molecular weight agent recognized to cause blood platelets activation and aggregation. NTPDases and adenylate kinase (AK) are the main enzymes involved in metabolism of extracellular adenine nucleotides. The majority of studies concentrated on the role of NTPDase1 (apyrase) in the inhibition of platelets aggregation. Up to now, there are still insufficient data concerning the role of AK in this process. We found that adenylate kinase activity in the serum of patients with myocardial infarction is significantly increased when compared to the healthy volunteers. The elevated activity of AK is connected to appearance of another isoform of that enzyme, expressed in patients with myocardial infarction. The influence of AK on the pig blood platelets aggregation induced by 20 μM ADP or 7.5
Results for cd06636
Catalytic domain of the Protein Serine/Threonine Kinases, Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4 and 6. Serine/threonine kinases (STKs), mitogen-activated protein kinase (MAPK) kinase kinase kinase 4 (MAPKKKK4 or MAP4K4) and MAPKKKK6 (or MAP4K6) subfamily, catalytic (c) domain. STKs catalyze the transfer of the gamma-phosphoryl group from ATP to serine/threonine residues on protein substrates. The MAP4K4/MAP4K6 subfamily is part of a larger superfamily that includes the catalytic domains of other protein STKs, protein tyrosine kinases, RIO kinases, aminoglycoside phosphotransferase, choline kinase, and phosphoinositide 3-kinase. Members of this subfamily contain an N-terminal catalytic domain and a C-terminal citron homology (CNH) regulatory domain. MAP4Ks (or MAPKKKKs) are involved in MAPK signaling pathways that are important in mediating cellular responses to extracellular signals by activating a MAPK kinase kinase (MAPKKK or MAP3K or MKKK). Each MAPK cascade is activated ...
Reduced sphingosine kinase 1 activity in dengue virus type-2 infected cells can be mediated by the 3′ untranslated region of...
Sphingosine kinase 1 (SphK1) is a lipid kinase with important roles including regulation of cell survival. We have previously shown reduced SphK1 activity in cells with an established dengue virus type-2 (DENV-2) infection. In this study, we examined the effect of alterations in SphK1 activity on DENV-2 replication and cell death and determined the mechanisms of the reduction in SphK1 activity. Chemical inhibition or overexpression of SphK1 after established DENV-2 infection had no effect on infectious DENV-2 production, although inhibition of SphK1 resulted in enhanced DENV-2-induced cell death. Reduced SphK1 activity was observed in multiple cell types, regardless of the ability of DENV-2 infection to be cytopathic, and was mediated by a post-translational mechanism. Unlike bovine viral diarrhea virus, where SphK1 activity is decreased by the NS3 protein, SphK1 activity was not affected by DENV-2 NS3 but, instead, was reduced by expression of the terminal 396 bases of the 3′ UTR of DENV-2 RNA. We
Sampling of major histocompatibility complex class I-associated peptidome suggests relatively looser global association of HLA...
We have analyzed peptides associated with six human major histocompatibility complex (MHC) class I allomorphs expressed by the U937 cell line. Peptides were isolated by mild acid elution or by MHC class I immunoprecipitation by using W6/32 monoclonal antibody. Eighty-five peptides were sequenced by mass spectrometry, and their putative binding alleles were assigned using bioinformatic tools. Only three peptides isolated by the two approaches were identical, suggesting that the approaches may yield distinct partially overlapping peptide populations. Mild acid treatment-derived peptides manifested overall characteristics suggestive of relatively lower affinity of binding for MHC class I. Interestingly, a large proportion of putative HLA-B*5101-binding peptides was evident among the mild acid treatment-eluted peptides, and to a lesser degree in the affinity-purified peptide pool. These results suggest that HLA-B*5101 may bind a potentially large pool of peptides with relatively lower affinity. We suggest
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Alg12-Congenital Disorder of Glycosylation disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Genetics Home Reference : 25 ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as congenital disorder of glycosylation type Ig) is an inherited disorder with varying signs and symptoms that can affect several body systems. Individuals with ALG12-CDG typically develop signs and symptoms of the condition during infancy. They may have problems feeding and difficulty growing and gaining weight at the expected rate (failure to thrive). In addition, affected individuals often have intellectual disability, delayed development, and weak muscle tone (hypotonia), and some develop seizures ...
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The cassava was modified for resistance to Cassava mosaic disease (CMD) by introducing an RNA interference cassette that targets African cassava mosaic virus (ACMV) replication associated disease AC1. The production of hairpin RNA by the host cells trigger an RNAi response that is expected to target viral transcripts and prevent viral replication and thus further infection. Due to conservation between AC1 sequences in ACMV and East african cassava mosaic virus, the modified cassava is expected to resistant to both viruses, which are the causal agents of CMD. A selectable marker, Escherichia coli hygromycin B phosphotransferase, was additionally included for hygromycin selection during transformation ...
Structural basis for the catalysis and substrate specificity of homoserine kinase<...
TY - JOUR. T1 - Structural basis for the catalysis and substrate specificity of homoserine kinase. AU - Krishna, S. S.. AU - Zhou, T.. AU - Daugherty, M.. AU - Osterman, A.. AU - Zhang, H.. N1 - Copyright: Copyright 2011 Elsevier B.V., All rights reserved.. PY - 2001/9/11. Y1 - 2001/9/11. N2 - Homoserine kinase (HSK), the fourth enzyme in the aspartate pathway of amino acid biosynthesis, catalyzes me pnosphorylanon of L-homoserine (Hse) to L-homoserine phosphate, an intermediate in the production of L-threonine, L-isoleucine, and in higher plants, L-methionine. The high-resolution structures of Methanococcus jannaschii HSK ternary complexes with its amino acid substrate and ATP analogues have been determined by X-ray crystallography. These structures reveal the structural determinants of the tight and highly specific binding of Hse, which is coupled with local conformational changes that enforce the sequestration of the substrate. The δ-hydroxyl group of bound Hse is only 3.4 Å away from the ...
Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation | IRIS Università degli Studi di...
We investigated the metabolic defect(s) of four children who presented with isolated cryptogenic chronic liver disease, coagulopathy, and abnormalities of several unrelated serum glycoproteins. Analysis of the patients' serum glycoproteins and fibroblasts suggest they have a novel congenital disorder of glycosylation (CDG). All had abnormal transferrin (Tf) isoelectric focusing (IEF) profiles. More detailed analysis of Tf by electrospray ionization mass spectrometry (ESI-MS) showed a plethora of abnormal glycosylations that included loss of 1-2 sialic acids and 1-2 galactose units, typical of Group II defects. Tf from two patients also lacked 1-2 entire oligosaccharide chains, typical of Group One disorders. Total serum N-glycans were analyzed by HPLC and matrix-assisted laser desorption/ionization mass spectrometry and also showed increased proportion of neutral glycan chains lacking sialic acids and galactose units. Analysis of patient fibroblasts eliminated CDG-Ia, through CDG-Ih, -IL and ...
An affinity label for the regulatory dithiol of ribulose-5-phosphate kinase from maize (Zea mays) | Biochemical Journal
Ribulose-5-phosphate kinase from maize (Zea mays) can exist in either a reduced, active form or an oxidized, inactive form. Reduced ribulose-5-phosphate kinase is rapidly and irreversibly inactivated by the dichlorotriazine dye Reactive Red 1 (Procion Red MX-2B), but the irreversible inactivation of the oxidized form of ribulose-5-phosphate kinase occurs at only 0.05% of this rate. The rate of inactivation of the reduced enzyme by Reactive Red 1 (apparent bimolecular rate constant 10(4)M-1 X s-1 at pH 7.4 and 25 degrees C) is several orders of magnitude greater than previous estimates of the rates of dye-mediated inactivation of other enzymes. The dye-dependent inactivation of the reduced enzyme is inhibited by Hg2+ or p-mercuribenzoate (thiol reagents that reversibly inhibit ribulose-5-phosphate kinase activity), or by ATP and ADP, the nucleotide substrates of the enzyme. Hydrolysed Reactive Red 1, which does not inactivate the enzyme, is a reversible inhibitor of ribulose-5-phosphate kinase. ...
Crystal structure of an essential enzyme in seed starch degradation - barley limit dextrinase in complex with cyclodextrins -...
Barley limit dextrinase [Hordeum vulgare limit dextrinase (HvLD)] catalyzes the hydrolysis of α-1,6 glucosidic linkages in limit dextrins. This activity plays a role in starch degradation during germination and presumably in starch biosynthesis during grain filling. The crystal structures of HvLD in complex with the competitive inhibitors α-cyclodextrin (CD) and β-CD are solved and refined to 2.5 Å and 2.1 Å, respectively, and are the first structures of a limit dextrinase. HvLD belongs to glycoside hydrolase 13 family and is composed of four domains: an immunoglobulin-like N-terminal eight-stranded β-sandwich domain, a six-stranded β-sandwich domain belonging to the carbohydrate binding module 48 family, a catalytic (β/α)8-like barrel domain that lacks α-helix 5, and a C-terminal eight-stranded β-sandwich domain of unknown function. The CDs are bound at the active site occupying carbohydrate binding subsites + 1 and + 2. A glycerol and three water molecules mimic a glucose residue at ...
Monoclonal antibody against kanamycin was ready, and competitive direct ELISA and - Evolving Approaches to Metastatic Breast...
Monoclonal antibody against kanamycin was ready, and competitive direct ELISA and immunochromatographic assay were developed using the antibody to detect kanamycin in animal plasma and milk. kanamycin residues in veterinary medicine. Screened positives can be confirmed using a more sensitive laboratory method such as competitive direct ELISA. Therefore, the assays developed in this study could be used to complement each other as well as other laboratory findings. Moreover, instead of slaughtering the animals to obtain test samples, these methods could be applied to determine kanamycin concentration in the plasma of live animals. spp., and spp. [16], and is known to perturb protein synthesis in Gram-negative bacteria by binding to the 30 S subunit of ribosomal RNA, which causes misreading of the genetic code and inhibits translation [6,15]. Kanamycin is a mixture of 3 isomers: kanamycin A, kanamycin B, and kanamycin C. Since the kanamycin components differ markedly in their toxicity, commercial ...
Publication : USDA ARS
Citation: Malnoy, M., Boresjza-Wysocka, E., Norelli, J.L., Flaishman, M., Gidoni, D., Aldwinckle, H.S. 2010. Genetic transformation of apple (Malus x domestica) without use of a selectable marker gene. Tree Genetics and Genomes. 6:423-433. Interpretive Summary: Antibiotic and herbicide resistance genes are widely used as selectable markers to facilitate the efficient transformation of crop plants. Due to the negative public connotations associated with the use of selectable markers, a completely marker-free transformation technology would be desirable for the commercialization of genetically transformed plants. With this goal in mind, a technique was developed to genetically transform apple without the use of selectable marker genes. The technique takes advantage of the apple's capacity for high efficiency transformation and allows for the generation of marker-free transgenic plants without the need for repeated transformation or sexual crossing. When two different marker-gene free vectors ...
A crucial role of Flagellin in the induction of airway mucus production by Pseudomonas aeruginosa • Research - Institut Pasteur
Pseudomonas aeruginosa is an opportunistic pathogen involved in nosocomial infections. Flagellin is a P. aeruginosa virulence factor involved in host response
Biosynthesis of beta-glucans by cell-free extracts from Saccharomyces cerevisiae.
Cell-free extracts from Saccharomyces cerevisiae catalyzed the incorporation of glucosyl residues from UDP-[U-14C]glucose into beta-1,3-glucans which contained a significant proportion of beta-1,6-glycosidic linkages. When GDP-[U-14C]glucose was used
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