A mutation in adenylosuccinate lyase associated with mental retardation and autistic features
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A high-coverage genome sequence from an archaic Denisovan individualThe characterization of mutant Bacillus subtilis adenylosuccinate lyases corresponding to severe human adenylosuccinate lyase deficienciesThe structure of phosphate-bound Escherichia coli adenylosuccinate lyase identifies His171 as a catalytic acidSubstrate and Product Complexes of Escherichia coli Adenylosuccinate Lyase Provide New Insights into the Enzymatic MechanismThe isolation and characterization of Saccharomyces cerevisiae mutants that constitutively express purine biosynthetic genes.Yeast AMP pathway genes respond to adenine through regulated synthesis of a metabolic intermediate.Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequenceIdentification of His141 in the active site of Bacillus subtilis adenylosuccinate lyase by affinity labeling with 6-(4-bromo-2,3-dioxobutyl)thioadenosine 5'-monophosphateRole of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelinesMolecular cloning, characterization and expression analysis of adenylosuccinate lyase gene in grass carp (Ctenopharyngodon idella).Exploring metabolic pathway disruption in the subchronic phencyclidine model of schizophrenia with the Generalized Singular Value DecompositionNeurologic aspects of adenylosuccinate lyase deficiency.The genetics of autism.Adenylosuccinate lyase deficiency.The purine synthesis gene Prat2 is required for Drosophila metamorphosis, as revealed by inverted-repeat-mediated RNA interference.Crystallization and preliminary structural analysis of Bacillus subtilis adenylosuccinate lyase, an enzyme implicated in infantile autismZebrafish mutations in gart and paics identify crucial roles for de novo purine synthesis in vertebrate pigmentation and ocular development.Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach.Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism?Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man.Metabolic intermediates selectively stimulate transcription factor interaction and modulate phosphate and purine pathways.Activation of methionine synthase by insulin-like growth factor-1 and dopamine: a target for neurodevelopmental toxins and thimerosal.Identification of mRNAs that show modulated expression during colon carcinoma cell differentiation.Association of CAG repeat loci on chromosome 22 with schizophrenia and bipolar disorder.Identifying pathway modules of tuberculosis in children by analyzing multiple different networks.Pathophysiology of autism: current opinions.Prenatal diagnosis in adenylosuccinate lyase deficiency.Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum DisordersPlausibility of the zebrafish embryos/larvae as an alternative animal model for autism: A comparison study of transcriptome changes
P2860
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P2860
A mutation in adenylosuccinate lyase associated with mental retardation and autistic features
description
1992 nî lūn-bûn
@nan
1992 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
A mutation in adenylosuccinate ...... ardation and autistic features
@ast
A mutation in adenylosuccinate ...... ardation and autistic features
@en
A mutation in adenylosuccinate ...... ardation and autistic features
@nl
type
label
A mutation in adenylosuccinate ...... ardation and autistic features
@ast
A mutation in adenylosuccinate ...... ardation and autistic features
@en
A mutation in adenylosuccinate ...... ardation and autistic features
@nl
prefLabel
A mutation in adenylosuccinate ...... ardation and autistic features
@ast
A mutation in adenylosuccinate ...... ardation and autistic features
@en
A mutation in adenylosuccinate ...... ardation and autistic features
@nl
P2093
P2860
P356
P1433
P1476
A mutation in adenylosuccinate ...... ardation and autistic features
@en
P2093
B A Barshop
G Van den Berghe
P2860
P2888
P356
10.1038/NG0492-59
P407
P577
1992-04-01T00:00:00Z
P5875
P6179
1049051171