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
about
Modulation of de novo purine biosynthesis leads to activation of AMPK and results in improved glucose handling and insulin sensitivityMutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiencyThe characterization of mutant Bacillus subtilis adenylosuccinate lyases corresponding to severe human adenylosuccinate lyase deficienciesEffect 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 sapiensMutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)Structural and Biochemical Characterization of Human Adenylosuccinate Lyase (ADSL) and the R303C ADSL Deficiency-Associated MutationTwo novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASLMolecular cloning, characterization and expression analysis of adenylosuccinate lyase gene in grass carp (Ctenopharyngodon idella).Adenylosuccinate lyase deficiency.Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failureTesting for Ancient Selection Using Cross-population Allele Frequency Differentiation.Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiencyCryptococcus neoformans ADS lyase is an enzyme essential for virulence whose crystal structure reveals features exploitable in antifungal drug design.Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.Effect of Sea Buckthorn Leaves on Inosine Monophosphate and Adenylosuccinatelyase Gene Expression in Broilers during Heat Stress.Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency.Self-domestication in Homo sapiens: Insights from comparative genomics.Molecular characterization of five porcine candidate genes for drip loss in pork.Transcriptomic analysis of genes in the nitrogen recycling pathway of meat-type chickens divergently selected for feed efficiency.Identifying pathway modules of tuberculosis in children by analyzing multiple different networks.Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment method.
P2860
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P2860
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
description
2000 nî lūn-bûn
@nan
2000 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Human adenylosuccinate lyase ( ...... DSL deficiency in six patients
@ast
Human adenylosuccinate lyase ( ...... DSL deficiency in six patients
@en
Human adenylosuccinate lyase ( ...... DSL deficiency in six patients
@en-gb
Human adenylosuccinate lyase ( ...... DSL deficiency in six patients
@nl
type
label
Human adenylosuccinate lyase ( ...... DSL deficiency in six patients
@ast
Human adenylosuccinate lyase ( ...... DSL deficiency in six patients
@en
Human adenylosuccinate lyase ( ...... DSL deficiency in six patients
@en-gb
Human adenylosuccinate lyase ( ...... DSL deficiency in six patients
@nl
prefLabel
Human adenylosuccinate lyase ( ...... DSL deficiency in six patients
@ast
Human adenylosuccinate lyase ( ...... DSL deficiency in six patients
@en
Human adenylosuccinate lyase ( ...... DSL deficiency in six patients
@en-gb
Human adenylosuccinate lyase ( ...... DSL deficiency in six patients
@nl
P2093
P50
P921
P3181
P356
P1476
Human adenylosuccinate lyase ( ...... DSL deficiency in six patients
@en
P2093
H Hartmannová
M Zikánová
P304
P3181
P356
10.1093/HMG/9.10.1501
P407
P577
2000-06-01T00:00:00Z