Adenylosuccinate Lyase
Adenylosuccinate Synthase
Lyases
Aminoimidazole Carboxamide
Purines
Inosine Monophosphate
Ribonucleotides
Adenosine Monophosphate
Thermotoga maritima
A rod-shaped bacterium surrounded by a sheath-like structure which protrudes balloon-like beyond the ends of the cell. It is thermophilic, with growth occurring at temperatures as high as 90 degrees C. It is isolated from geothermally heated marine sediments or hot springs. (From Bergey's Manual of Determinative Bacteriology, 9th ed)
Mutation, Missense
Molecular Sequence Data
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Amino Acid Sequence
Lesch-Nyhan Syndrome
An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
Purine-Nucleoside Phosphorylase
Metabolome
Metabolomics
Capillary electrophoresis for detection of inherited disorders of purine and pyrimidine metabolism. (1/51)
BACKGROUND: Measurement of purine and pyrimidine metabolites presents complex problems for separations currently performed by HPLC and thin-layer chromatography in clinical practice. We developed a novel capillary electrophoresis method for this purpose. METHODS: Separations were performed in 60 mmol/L borate-2-amino-2-methyl-1-propanol-80 mmol/L sodium dodecyl sulfate (pH 9.6) at 35 degrees C. RESULTS: The conditions reported allowed separation of all diagnostic metabolites from major urinary constituents in an analysis time of 3 min and with a separation efficiency of 220 000 theoretical plates/m. The clinically important metabolites were detectable at concentrations of 0.85-4.28 micromol/L. The method was linear over the range 5-500 micromol/L (r >0.99). The within-run and intra- and interday imprecision (CV) was <5%. Characteristic abnormalities were detected in the electropherograms of urine samples from patients with purine and pyrimidine enzyme deficiencies. We provide the electrophoretic and spectral characteristics of many intermediates in purine and pyrimidine metabolism and describe common artifacts from medication and ultraviolet-absorbing compounds. CONCLUSION: Capillary electrophoresis is a valuable screening tool in the detection of inborn errors of purine and pyrimidine metabolism. (+info)The structure of adenylosuccinate lyase, an enzyme with dual activity in the de novo purine biosynthetic pathway. (2/51)
BACKGROUND: Adenylosuccinate lyase is an enzyme that plays a critical role in both cellular replication and metabolism via its action in the de novo purine biosynthetic pathway. Adenylosuccinate lyase is the only enzyme in this pathway to catalyze two separate reactions, enabling it to participate in the addition of a nitrogen at two different positions in adenosine monophosphate. Both reactions catalyzed by adenylosuccinate lyase involve the beta-elimination of fumarate. Enzymes that catalyze this type of reaction belong to a superfamily, the members of which are homotetramers. Because adenylosuccinate lyase plays an integral part in maintaining proper cellular metabolism, mutations in the human enzyme can have severe clinical consequences, including mental retardation with autistic features. RESULTS: The 1.8 A crystal structure of adenylosuccinate lyase from Thermotoga maritima has been determined by multiwavelength anomalous dispersion using the selenomethionine-substituted enzyme. The fold of the monomer is reminiscent of other members of the beta-elimination superfamily. However, its active tetrameric form exhibits striking differences in active-site architecture and cleft size. CONCLUSIONS: This first structure of an adenylosuccinate lyase reveals that, along with the catalytic base (His141) and the catalytic acid (His68), Gln212 and Asn270 might play a vital role in catalysis by properly orienting the succinyl moiety of the substrates. We propose a model for the dual activity of adenylosuccinate lyase: a single 180 degrees bond rotation must occur in the substrate between the first and second enzymatic reactions. Modeling of the pathogenic human S413P mutation indicates that the mutation destabilizes the enzyme by disrupting the C-terminal extension. (+info)Succinylpurinemic autism: increased sensitivity of defective adenylosuccinate lyase towards 4-hydroxy-2-nonenal. (3/51)
We studied the effect of trans-4-hydroxy-2-nonenal on the wild-type human adenylosuccinate lyase and on the enzyme from a patient compound-heterozygous for two missense mutations (P75A/D397Y; McKusick 103050.0003/103050.0004). Both the enzymes were inhibited by 10-50 microM trans-4-hydroxy-2-nonenal in a concentration-dependent manner by means of a mixed-type co-operative mechanism. A significantly stronger inhibition was noticed in the presence of the defective enzyme. Nonanal and trans-2,3-nonenal inhibited the enzymes to a less extent and at about 10-times higher concentrations. Hydroxylamine reversed the inhibition by trans-4-hydroxy-2-nonenal, trans-2,3-nonenal or nonanal in the case of the wild-type enzyme, but it was ineffective to reverse the inhibition by trans-4-hydroxy-2-nonenal on the defective enzyme. Dithiothreitol slightly decreased the inhibition exerted by trans-4-hydroxy-2-nonenal on both the wild-type and the defective adenylosuccinate lyase, while it did not produce practically any change in the presence of trans-2,3-nonenal or nonanal. (+info)Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. (4/51)
Adenylosuccinate lyase (ADSL) is a bifunctional enzyme acting in de novo purine synthesis and purine nucleotide recycling. ADSL deficiency is a selectively neuronopathic disorder with psychomotor retardation and epilepsy as leading traits. Both dephosphorylated enzyme substrates, succinylaminoimidazole-carboxamide riboside (SAICAr) and succinyladenosine (S-Ado), accumulate in the cerebrospinal fluid (CSF) of affected individuals with S-Ado/SAICAr concentration ratios proportional to the phenotype severity. We studied the disorder at various levels in a group of six patients with ADSL deficiency. We identified the complete ADSL cDNA and its alternatively spliced isoform resulting from exon 12 skipping. Both mRNA isoforms were expressed in all the tissues studied with the non-spliced form 10-fold more abundant. Both cDNAs were expressed in Escherichia coli and functionally characterized at the protein level. The results showed only the unspliced ADSL to be active. The gene consists of 13 exons spanning 23 kb. The promotor region shows typical features of the housekeeping gene. Eight mutations were identified in a group of six patients. The expression studies of the mutant proteins carried out in an attempt to study genotype-phenotype correlation showed that the level of residual enzyme activity correlates with the severity of the clinical phenotype. All the mutant enzymes studied in vitro displayed a proportional decrease in activity against both of their substrates. However, this was not concordant with strikingly different concentration ratios in the CSF of individual patients. This suggests either different in vivo enzyme activities against each of the substrates and/or their different turnover across the CSF-blood barrier, which may be decisive in determining disease severity. (+info)Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. (5/51)
Adenylosuccinate lyase (ADSL) deficiency (MIM 103050) is an autosomal recessive inborn error of purine synthesis characterized by the accumulation in body fluids of succinylaminoimidazolecarboxamide (SAICA) riboside and succinyladenosine (S-Ado), the dephosphorylated derivatives of the two substrates of the enzyme. Because ADSL-deficient patients display widely variable degrees of psychomotor retardation, we have expressed eight mutated ADSL enzymes as thioredoxin fusions and compared their properties with the clinical and biochemical characteristics of 10 patients. Three expressed mutated ADSL enzymes (M26L, R426H and T450S) were thermolabile, four (A2V, R141W, R303C and S395R) were thermostable and one (del206-218), was inactive. Thermolabile mutations decreased activities with SAICA ribotide (SAICAR) and adenylosuccinate (S-AMP) in parallel, or more with SAICAR than with S-AMP. Patients homozygous for one of these mutations, R426H, displayed similarly decreased ADSL activities in their fibroblasts, S-Ado:SAICA riboside ratios of approximately 1 in their cerebrospinal fluid and were profoundly retarded. With the exception of A2V, thermostable mutations decreased activity with S-AMP to a much more marked extent than with SAICAR. Two unrelated patients homozygous for one of the thermostable mutations, R303C, also displayed a much more marked decrease in the activity of fibroblast ADSL with S-AMP than with SAICAR, had S-Ado:SAICA riboside ratios between 3 and 4 in their cerebrospinal fluid and were mildly retarded. These results suggest that, in some cases, the genetic lesion of ADSL determines the ratio of its activities with S-AMP versus SAICAR, which in turn defines the S-Ado:SAICA riboside ratio and the patients' mental status. (+info)Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency. (6/51)
Adenylosuccinate lyase (ADSL; also called "adenylosuccinase") catalyzes two steps in the synthesis of purine nucleotides: (1) the conversion of succinylaminoimidazolecarboxamide ribotide into aminoimidazolecarboxamide ribotide and (2) the conversion of adenylosuccinate into adenosine monophosphate. ADSL deficiency, a recessively inherited disorder, causes variable-but most often severe-mental retardation, frequently accompanied by epilepsy and/or autism. It is characterized by the accumulation, in body fluids, of succinylaminoimidazolecarboxamide riboside and succinyladenosine, the dephosphorylated derivatives of the two substrates of the enzyme. Analysis of the ADSL gene of three unrelated patients with ADSL deficiency, in whom one of the ADSL alleles displayed a normal coding sequence, revealed a -49T-->C mutation in the 5' untranslated region of this allele. Measurements of the amount of mRNA transcribed from the latter allele showed that it was reduced to approximately 33% of that transcribed from the alleles mutated in their coding sequence. Further investigations showed that the -49T-->C mutation provokes a reduction to 25% of wild-type control of promoter function, as evaluated by luciferase activity and mRNA level in transfection experiments. The mutation also affects the binding of nuclear respiratory factor 2 (NRF-2), a known activator of transcription, as assessed by gel-shift studies. Our findings indicate that a mutation of a regulatory region of the ADSL gene might be an unusually frequent cause of ADSL deficiency, and they suggest a role for NRF-2 in the gene regulation of the purine biosynthetic pathway. (+info)Splicing graphs and EST assembly problem. (7/51)
MOTIVATION: The traditional approach to annotate alternative splicing is to investigate every splicing variant of the gene in a case-by-case fashion. This approach, while useful, has some serious shortcomings. Recent studies indicate that alternative splicing is more frequent than previously thought and some genes may produce tens of thousands of different transcripts. A list of alternatively spliced variants for such genes would be difficult to build and hard to analyse. Moreover, such a list does not show the relationships between different transcripts and does not show the overall structure of all transcripts. A better approach would be to represent all splicing variants for a given gene in a way that captures the relationships between different splicing variants. RESULTS: We introduce the notion of the splicing graph that is a natural and convenient representation of all splicing variants. The key difference with the existing approaches is that we abandon the linear (sequence) representation of each transcript and replace it with a graph representation where each transcript corresponds to a path in the graph. We further design an algorithm to assemble EST reads into the splicing graph rather than assembling them into each splicing variant in a case-by-case fashion. (+info)The characterization of mutant Bacillus subtilis adenylosuccinate lyases corresponding to severe human adenylosuccinate lyase deficiencies. (8/51)
Adenylosuccinate lyase is a homotetramer that catalyzes two discrete reactions in the de novo synthesis of purines: the cleavage of adenylosuccinate and succinylaminoimidazole carboxamide ribotide (SAICAR). Several point mutations in the gene encoding the enzyme have been implicated in human disease. Bacillus subtilis adenylosuccinate lyase was used as a model system in which mutations were constructed corresponding to those mutations associated with severe human adenylosuccinate lyase deficiency. Site-directed mutagenesis was utilized to construct amino acid substitutions in B. subtilis adenylosuccinate lyase; Met(10), Ile(123), and Thr(367) were replaced by Leu, Trp, and Arg, respectively, and the altered enzymes were expressed in Escherichia coli. These purified enzymes containing amino acid substitutions were found to have substantial catalytic activity and exhibit relatively small changes in their kinetic parameters. The major deviations from the wild-type-like behavior were observed upon biophysical characterization. All of these enzymes with amino acid replacements are associated with marked thermal instability. I123W adenylosuccinate lyase exhibits notable changes in the circular dichroism spectra, and a native gel electrophoresis pattern indicative of some protein aggregation. T367R also exhibits alterations at the quarternary level, as reflected in native gel electrophoresis. Experimental results, combined with homology modeling, suggest that the altered enzymes are primarily structurally impaired. The enzyme instability was found to be lessened by subunit complementation with the wild-type enzyme, under mild conditions; these studies may have implications for the in vivo behavior of adenylosuccinate lyase in heterozygous patients. Residues Met(10), Ile(123), and Thr(367) appear to be located in regions of the enzyme important for maintaining the structural integrity required for a stable, functional enzyme. (+info)
RCSB PDB - 2VD6: Human adenylosuccinate lyase in complex with its substrate N6-(1,2- Dicarboxyethyl)-AMP, and its products AMP...
Natural cure for Adenylosuccinate lyase deficiency and alternative treatments
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"Adenylosuccinate Lyase: Novel Intersubunit Active Sites". National Institute of Diabetes and Digestive and Kidney Diseases ( ...
Nucleotide
This step is catalyzed by adenylosuccinate lyase. Inosine monophosphate is converted to guanosine monophosphate by the ... First, GTP hydrolysis fuels the addition of aspartate to IMP by adenylosuccinate synthase, substituting the carbonyl oxygen for ... a nitrogen and forming the intermediate adenylosuccinate. Fumarate is then cleaved off forming adenosine monophosphate. ...
Bacillus subtilis
Adenylosuccinate lyase deficiency Extremophile Guthrie test YlbH leader.. Euzéby JP (2008). "Bacillus". List of Prokaryotic ...
Morpheein
... of a Mutant Bacillus subtilis Adenylosuccinate Lyase Equivalent to a Mutant Enzyme Found in Human Adenylosuccinate Lyase ... "Evaluation of Types of Interactions in Subunit Association in Bacillus subtilis Adenylosuccinate Lyase". Biochemistry. 47 (9): ...
Purine metabolism
GMP back into IMP adenylosuccinate synthase converts IMP to adenylosuccinate adenylosuccinate lyase converts adenylosuccinate ... CAIR + L-Aspartate + ATP → SAICAR + ADP + Pi The eight is catalyzed by adenylosuccinate lyase. SAICAR → AICAR + Fumarate The ...
GMP synthase
IMP may also be generated into AMP by adenylosuccinate synthetase and then adenylosuccinate lyase. GMP synthase is also ...
Nucleotide salvage
... this is subsequently acted upon by adenylosuccinate synthase and adenylosuccinate lyase, in a two step process, to convert it ... kinetic and catalytic mechanism of adenylosuccinate lyase from Plasmodium falciparum". Biochimica et Biophysica Acta (BBA) - ...
GABPB2
... untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency". Am. J. Hum. Genet. 71 (1): 14- ...
List of diseases (A)
... anemia due to Adenylosuccinate lyase deficiency Adie syndrome Adiposis dolorosa, aka Dercum's disease Adolescent benign focal ...
Angelman syndrome
Autism spectrum Cerebral palsy Rett syndrome Mowat-Wilson syndrome Adenylosuccinate lyase deficiency Pitt-Hopkins syndrome ...
SAICA
... a molecule whose appearance is characteristic of the disease adenylosuccinate lyase deficiency Saica may refer to: Saica (bug ...
Purine nucleotide cycle
Adenylosuccinate + GDP + Pi Finally, adenylosuccinate is cleaved by the enzyme adenylosuccinate lyase to release fumarate and ... to sustain mitochondrial membrane potential during anoxic stress by utilizing fumarate produced by adenylosuccinate lyase as an ... NH4+ The second stage is the formation of adenylosuccinate from IMP and the amino acid aspartate, which is coupled to the ... regenerate the starting material of AMP: Adenylosuccinate → AMP + Fumarate A recent study showed that activation of HIF-1α ...
Causes of autism
... deficiency X-linked creatine transporter defect 6-N-trimethyllysine dioxygenase deficiency Adenylosuccinate lyase deficiency ...
Adenylosuccinate
... lyase deficiency Purine nucleotide cycle Figures 20.4 and 20.7 in Textbook of Biochemistry, with clinical ... Adenylosuccinate is an intermediate in the interconversion of purine nucleotides inosine monophosphate (IMP) and adenosine ... monophosphate (AMP). The enzyme adenylosuccinate synthase carries out the reaction by the addition of aspartate to IMP and ...
Fumarate lyase
Adenylosuccinase, EC 4.3.2.2 (adenylosuccinate lyase), which catalyzes the eighth step in the de novo biosynthesis of purines, ... Fumarate lyase is a substrate of the lyase class of enzymes. It been shown to share a short conserved sequence around a ... Aspartate ammonia-lyase, EC 4.3.1.1 (aspartase), which catalyzes the reversible conversion of aspartate to fumarate and ammonia ... Delta-crystallin shares around 90% sequence identity with arginosuccinate lyase, showing that it is an example of a 'hijacked' ...
Adenylosuccinate lyase
... (or adenylosuccinase) is an enzyme that in humans is encoded by the ADSL gene. Adenylosuccinate lyase ... Mutated adenylosuccinate lyase (ASL) causes clinical disease in patients that is referred to as adenylosuccinate lyase ... "The characterization of mutant Bacillus subtilis adenylosuccinate lyases corresponding to severe human adenylosuccinate lyase ... of a mutant Bacillus subtilis adenylosuccinate lyase equivalent to a mutant enzyme found in human adenylosuccinate lyase ...
Adenylosuccinate lyase deficiency
"adenylosuccinate lyase deficiency". Genetics Home Reference. Retrieved 18 December 2016. "Adenylosuccinate lyase deficiency". ... Adenylosuccinate Adenylosuccinate lyase List of genetic disorders Online Mendelian Inheritance in Man (OMIM): 103050 " ... Treatment of adenylosuccinate lyase deficiency can be done via epilepsy management with anticonvulsive drugs. Additionally the ... Adenylosuccinate lyase deficiency is a rare autosomal recessive metabolic disorder characterized by the appearance of ...
List of MeSH codes (D08)
... tyrosine phenol-lyase MeSH D08.811.520.232.300 - amidine-lyases MeSH D08.811.520.232.300.200 - adenylosuccinate lyase MeSH ... chondroitin lyases MeSH D08.811.520.241.700.350.500.500 - chondroitin abc lyase MeSH D08.811.520.241.700.512 - heparin lyase ... ammonia-lyases MeSH D08.811.520.232.400.200 - aspartate ammonia-lyase MeSH D08.811.520.232.400.350 - ethanolamine ammonia-lyase ... lyase MeSH D08.811.520.241.300 - hydro-lyases MeSH D08.811.520.241.300.050 - aconitate hydratase MeSH D08.811.520.241.300.050. ...
List of EC numbers (EC 4)
... argininosuccinate lyase EC 4.3.2.2: adenylosuccinate lyase EC 4.3.2.3: ureidoglycolate lyase EC 4.3.2.4: purine imidazole-ring ... pectin lyase EC 4.2.2.11: guluronate-specific alginate lyase EC 4.2.2.12: xanthan lyase EC 4.2.2.13: exo-(1→4)-α-D-glucan lyase ... chondroitin AC lyase EC 4.2.2.6: oligogalacturonide lyase EC 4.2.2.7: heparin lyase EC 4.2.2.8: heparin-sulfate lyase EC 4.2. ... alliin lyase EC 4.4.1.5: lactoylglutathione lyase EC 4.4.1.6: Now included in EC 4.4.1.13, cysteine-S-conjugate β-lyase EC 4.4. ...
List of EC numbers (EC 6)
... lyase] ligase EC 6.2.1.23: dicarboxylate-CoA ligase EC 6.2.1.24: phytanate-CoA ligase EC 6.2.1.25: benzoate-CoA ligase EC 6.2. ... adenylosuccinate synthase EC 6.3.4.5: argininosuccinate synthase EC 6.3.4.6: urea carboxylase EC 6.3.4.7: ribose-5-phosphate- ...
Ligase - Wikipédia
... lyase] ligase EC 6.2.1.23 dicarboxylate-CoA ligase EC 6.2.1.24 phytanate-CoA ligase EC 6.2.1.25 benzoate-CoA ligase EC 6.2.1.26 ... EC 6.3.4.3 formate-tetrahydrofolate ligase EC 6.3.4.4 adenylosuccinate synthase EC 6.3.4.5 argininosuccinate synthase EC 6.3. ...
Code System Concept
... lyase ligase (substance) {130907003 , SNOMED-CT } Citrate--CoA ligase (substance) {130903004 , SNOMED-CT } Cystathionine beta- ... Adenylosuccinate synthase (substance) {37346006 , SNOMED-CT } Alanine-transfer ribonucleic acid ligase (substance) {68429002 , ...
Code System Concept
Adenylosuccinate lyase deficiency (disorder) {15285008 , SNOMED-CT } Adult polyglucosan body disease (disorder) {721099001 , ... Deficiency of histidine ammonia-lyase (disorder) {124628005 , SNOMED-CT } Deficiency of hydroxymethylglutaryl-CoA lyase ( ... Argininosuccinate lyase deficiency (disorder) {41013004 , SNOMED-CT } Arterial tortuosity syndrome (disorder) {458432002 , ...
MedlinePlus: Genes
ADSL: adenylosuccinate lyase. *AFF2: ALF transcription elongation factor 2. *AFF4: ALF transcription elongation factor 4 ...
Code System Concept
Adenylosuccinate lyase (substance). Code System Preferred Concept Name. Adenylosuccinate lyase (substance). Concept Status. ... Enzyme (substance) {90668006 , SNOMED-CT } Substance with lyase mechanism of action (substance) {21533003 , SNOMED-CT } ...
Adenylosuccinate lyase deficiency: MedlinePlus Genetics
Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to ... medlineplus.gov/genetics/condition/adenylosuccinate-lyase-deficiency/ Adenylosuccinate lyase deficiency. ... All forms of adenylosuccinate lyase deficiency are caused by mutations in the ADSL gene. This gene provides instructions for ... Adenylosuccinate lyase deficiency type I (also known as the severe form) is the most common. The signs and symptoms of this ...
Code System Concept
Adenylosuccinate lyase measurement (procedure). Code System Preferred Concept Name. Adenylosuccinate lyase measurement ( ...
MedlinePlus: Genes
ADSL: adenylosuccinate lyase. *AFF2: ALF transcription elongation factor 2. *AFF4: ALF transcription elongation factor 4 ...
MedlinePlus: Genetic Conditions: S
Succinylpurinemic autism, see Adenylosuccinate lyase deficiency. *Sucrase-isomaltase deficiency, see Congenital sucrase- ...
Code System Concept
Adenylosuccinate lyase measurement (procedure) {104476008 , SNOMED-CT } Alanine aminopeptidase measurement (procedure) { ... Histidine ammonia lyase measurement (procedure) {104729003 , SNOMED-CT } Hydroxymethylglutaryl-coenzyme A lyase measurement ( ... Argininosuccinate lyase measurement (procedure) {104534002 , SNOMED-CT } Argininosuccinate synthase measurement (procedure) { ...
Adenylosuccinate lyase deficiency: MedlinePlus Genetics
Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to ... medlineplus.gov/genetics/condition/adenylosuccinate-lyase-deficiency/ Adenylosuccinate lyase deficiency. ... All forms of adenylosuccinate lyase deficiency are caused by mutations in the ADSL gene. This gene provides instructions for ... Adenylosuccinate lyase deficiency type I (also known as the severe form) is the most common. The signs and symptoms of this ...
Adenylosuccinate lyase - Wikipedia
Adenylosuccinate lyase (or adenylosuccinase) is an enzyme that in humans is encoded by the ADSL gene. Adenylosuccinate lyase ... Mutated adenylosuccinate lyase (ASL) causes clinical disease in patients that is referred to as adenylosuccinate lyase ... "The characterization of mutant Bacillus subtilis adenylosuccinate lyases corresponding to severe human adenylosuccinate lyase ... of a mutant Bacillus subtilis adenylosuccinate lyase equivalent to a mutant enzyme found in human adenylosuccinate lyase ...
Adenylosuccinate Lyase Deficiency | MedLink Neurology
Adenylosuccinate lyase (ADSL) deficiency is an autosomal recessive defect of purine metabolism, affecting purinosome assembly ... Type I adenylosuccinate lyase deficiency (severe). Most patients reported so far have adenylosuccinate lyase deficiency type I ... Adenylosuccinate lyase deficiency. Adenylosuccinate lyase deficiency, the first enzyme deficiency reported in the DNPS pathway ... Adenylosuccinate lyase deficiency in a Malaysian patient with novel adenylosuccinate lyase gene mutations. J Inherit Metab Dis ...
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CATH Superfamily 1.10.40.30
Human Metabolome Database: Showing metabocard for Deoxyribose 1-phosphate (HMDB0001351)
Pathway specific effects of ADSL deficiency on neurodevelopment | eLife
HOMD :: SEQF2753
HOMD :: SEQF2867
Table - Borrelia burgdorferi Sensu Stricto DNA in Field-Collected Haemaphysalis longicornis Ticks, Pennsylvania, United States ...
HOMD :: SEQF3145
Desempenho, características de carcaça, qualidade de carne, expressão gênica e perfil proteômico do músculo em bovinos f1 Angus...
Code System Concept
Human HAL(Histidine Ammonia Lyase) ELISA Kit - ELISA Kits
Description: A competitive ELISA for quantitative measurement of Human Adenylosuccinate lyase(ADSL) in samples from blood, ... Human HAL(Histidine Ammonia Lyase) ELISA Kit. Human HAL(Histidine Ammonia Lyase) ELISA Kit. Contact us: [email protected] ... Description: A competitive ELISA for quantitative measurement of Human Adenylosuccinate lyase(ADSL) in samples from blood, ... Description: A competitive ELISA for quantitative measurement of Human Adenylosuccinate lyase(ADSL) in samples from blood, ...
Rat CSE(Cystathionine Gamma Lyase) ELISA Kit - The scientist connect
Description: A competitive ELISA for quantitative measurement of Rat Adenylosuccinate lyase(ADSL) in samples from blood, plasma ... Description: A competitive ELISA for quantitative measurement of Rat Adenylosuccinate lyase(ADSL) in samples from blood, plasma ... Description: A competitive ELISA for quantitative measurement of Rat Adenylosuccinate lyase(ADSL) in samples from blood, plasma ... Rat CSE(Cystathionine Gamma Lyase) ELISA Kit. Rat CSE(Cystathionine Gamma Lyase) ELISA Kit ...
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HOMD :: SEQF2546
Fumarate metabolism
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Transimulation
"sequence id","alias","species","description",...
"Adenylosuccinate lyase [Ensembl]. Adenylosuccinate lyase C-terminal [Interproscan].","protein_coding" "CRN97292","nuoB"," ... "pyruvate formate-lyase 4/2-ketobutyrate formate-lyase [Ensembl]. Glycine radical, Pyruvate formate lyase-like [Interproscan ... Adenylosuccinate lyase C-terminus [Interproscan].","protein_coding" "CRO09433","oprM_2","Pseudomonas aeruginosa","Outer ... ","aspartate ammonia-lyase [Ensembl]. Lyase, Fumarase C C-terminus [Interproscan].","protein_coding" "EDJ91600","CGSHi22421_ ...
Protein 8500725 in Desulfovibrio vulgaris Miyazaki F
Network Portal - Gene BC0324
Network Portal - Gene RSP 2258
Model Search | BioModels
Associated with Adenylosuccinate lyase defi1
- Neurologic symptoms are the most common and prominent clinical problems associated with adenylosuccinate lyase deficiency. (medlink.com)
PurB1
- Ts (BL1504), a transcription elongation factor (NusA) (BL1615), an UDP-galactopyranose mutase (GalE) (BL1644) and the adenylosuccinate lyase (PurB, BL1800). (srcpathway.com)
ADSL4
- All forms of adenylosuccinate lyase deficiency are caused by mutations in the ADSL gene. (medlineplus.gov)
- Adenylosuccinate lyase (or adenylosuccinase) is an enzyme that in humans is encoded by the ADSL gene. (wikipedia.org)
- Adenylosuccinate Lyase (ADSL) functions in de novo purine biosynthesis (DNPS) and the purine nucleotide cycle. (elifesciences.org)
- As proteínas Adenylosuccinate lyase (ADSL) e Alpha-enolase (ENO1), foram observadas apenas em amostras de animais castrados. (unesp.br)
Deficiency is a rare1
- Adenylosuccinate lyase deficiency is a rare, autosomal recessive defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through both de novo purine synthesis (DNPS) and purine nucleotide recycling pathways. (medlink.com)
Adenylosuccinase1
- Adenylosuccinase (EC 4.3.2.2 ) (adenylosuccinate lyase) [ 3 ], which catalyzes the eight step in the de novo biosynthesis of purines, the formation of 5'-phosphoribosyl-5-amino-4-imidazolecarboxamide and fumarate from 1-(5- phosphoribosyl)-4-(N-succino-carboxamide). (expasy.org)
Bacillus4
- Adenylosuccinate lyase in humans and Bacillus subtilis can be competitively inhibited by the substrate analog adenosine phosphonobutyric acid 2'(3'), 5'-diphosphate (APBADP). (wikipedia.org)
- Gln212, Asn270, and Arg301 are critical for catalysis by adenylosuccinate lyase from Bacillus subtilis. (jefferson.edu)
- Characterization of a mutant Bacillus subtilis adenylosuccinate lyase equivalent to a mutant enzyme found in human adenylosuccinate lyase deficiency: asparagine 276 plays an important structural role. (jefferson.edu)
- Effect of a new non-cleavable substrate analog on wild-type and serine mutants in the signature sequence of adenylosuccinate lyase of Bacillus subtilis and Homo sapiens. (jefferson.edu)
Mutants2
- Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. (medlineplus.gov)
- Adenylosuccinate lyase mutants can have considerably reduced activity whether the mutation is in or away from the active site. (wikipedia.org)
Enzyme7
- This gene provides instructions for making an enzyme called adenylosuccinate lyase, which performs two steps in the process that produces purine nucleotides. (medlineplus.gov)
- Most of the mutations involved in adenylosuccinate lyase deficiency change single protein building blocks (amino acids) in the adenylosuccinate lyase enzyme, which impairs its function. (medlineplus.gov)
- Adenylosuccinate lyase (ASL) is an enzyme that catalyzes two reactions in the de novo purine biosynthetic pathway. (wikipedia.org)
- Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Histidine Ammonia Lyase (HAL) in Tissue homogenates, cell lysates and other biological fluids. (myelisakit.com)
- Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Human Histidine Ammonia Lyase (HAL) in samples from Tissue homogenates, cell lysates and other biological fluids with no significant corss-reactivity with analogues from other species. (myelisakit.com)
- That enzyme can also catalyzes the formation of fumarate and AMP from adenylosuccinate. (expasy.org)
- En biochimie , une ligase est une enzyme qui catalyse la jonction de deux molécules (en anglais ligation ) par de nouvelles liaisons covalentes avec hydrolyse concomitante de l' ATP ou d'autres molécules similaires. (wikipedia.org)
ELISA Kit1
- Description: A sandwich ELISA kit for detection of Histidine Ammonia Lyase from Human in samples from blood, serum, plasma, cell culture fluid and other biological fluids. (myelisakit.com)
Catalysis1
- It was previously thought that the mechanism of action for adenylosuccinate lyase was a concerted catalysis where the hydrogen on the β-carbon (with respect to the leaving nitrogen) was abstracted by the catalytic base at the same time that the leaving nitrogen was protonated by the catalytic acid for E2 elimination. (wikipedia.org)
Succinyladenosine3
- Adenylosuccinate lyase converts a molecule called succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and converts succinyladenosine monophosphate (SAMP) to adenosine monophosphate (AMP). (medlineplus.gov)
- AICAR proceeds through three more reactions before it becomes adenylosuccinate (also called succinyladenosine monophosphate or SAMP), which ASL then splits into adenosine monophosphate (AMP) and fumarate. (wikipedia.org)
- In addition, we offer CSF sialic acid analysis for disorders of sialic acid metabolism, succinyladenosine as a specific marker for adenylosuccinate lyase deficiency, lactate , pyruvate , glucose for disorders that disrupt cellular energetics, and neopterin as a marker for central nervous system immune system stimulation. (labcorp.com)
Adenosine monophosphate1
- In the ASL-catalyzed reaction splitting adenylosuccinate into adenosine monophosphate (AMP) and fumarate, the AMP must rotate slightly after the reaction is complete and before fumarate is released in order for both products to fit in the active site. (wikipedia.org)
Synthase1
- En fait la synthase forme et défait les doubles liaisons d'une protéine. (wikipedia.org)
Converts1
- Adenylosuccinate lyase converts adenylosuccinate to AMP and fumarate as part of the purine nucleotide cycle. (wikipedia.org)
DNPS2
- The purinosome is a multienzyme complex of DNPS enzymes (including adenylosuccinate lyase) that cells transiently assemble in their cytosol to address both depletion of and increased demand for purines. (medlink.com)
- Adenylosuccinate lyase deficiency can be diagnosed by detection of elevated metabolites along the DNPS pathway (succinylpurines) in body fluids. (medlink.com)
SAICAr2
- Studies suggest that the amount of SAICAr relative to S-Ado reflects the severity of adenylosuccinate lyase deficiency. (medlineplus.gov)
- ASL cleaves adenylosuccinate into AMP and fumarate, and cleaves SAICAR into AICAR and fumarate. (wikipedia.org)
Fumarate2
- Aspartate ammonia-lyase (EC 4.3.1.1 ) (aspartase), which catalyzes the reversible conversion of aspartate to fumarate and ammonia. (expasy.org)
- Arginosuccinase (EC 4.3.2.1 ) (argininosuccinate lyase), which catalyzes the formation of arginine and fumarate from argininosuccinate, the last step in the biosynthesis of arginine. (expasy.org)
Biochemical1
- Detection of succinylpurines in body fluids by high-performance liquid chromatography or liquid chromatography-tandem mass spectrometry is the preferred biochemical test for adenylosuccinate lyase deficiency. (medlink.com)
Seizures1
- Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. (medlineplus.gov)
Tissue1
- damage to brain tissue caused by one or both of these substances likely underlies the neurological problems that occur in adenylosuccinate lyase deficiency. (medlineplus.gov)
Severe form2
- Adenylosuccinate lyase deficiency type I (also known as the severe form) is the most common. (medlineplus.gov)
- Clinically, adenylosuccinate lyase deficiency is generally categorized into three phenotypes: a fatal neonatal form, a severe form (type I), and a milder form (type II). (medlink.com)
Manifestations2
- The clinical presentation of adenylosuccinate lyase deficiency varies greatly with respect to age of onset, clinical manifestations, and rate of disease progression. (medlink.com)
- Corinna's research uses C. elegans with a reduced adenylosuccinate lyase activity to study neurobehavioral manifestations associated with the human disease adenylosuccinate lyase deficiency (ASLD). (psu.edu)
Biological fluids1
- Description: A sandwich ELISA for quantitative measurement of Human L Phenylalanine ammonia lyase in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. (myelisakit.com)
Symptoms3
- Adenylosuccinate lyase deficiency is classified into three forms based on the severity of the signs and symptoms. (medlineplus.gov)
- Point mutations in adenylosuccinate that cause lowered enzymatic activity cause clinical symptoms that mark the condition adenylosuccinate lyase deficiency. (wikipedia.org)
- Patients with adenylosuccinate lyase deficiency can present with nonspecific symptoms, such as developmental delay, autism spectrum disorder, or epilepsy, including infantile spasms. (medlink.com)
Type1
- In individuals with adenylosuccinate lyase deficiency type II (also known as the moderate or mild form), development is typically normal for the first few years of life but then slows. (medlineplus.gov)
Studies1
- APBADP is a competitive inhibitor for both of the reactions catalyzed by adenylosuccinate lyase, and kinetic studies with APBADP show that the substrates for both reactions use the same active site. (wikipedia.org)
Specific1
- No specific FDA-approved treatment is available for adenylosuccinate lyase deficiency. (medlink.com)