asparagine and Intellectual Disability

asparagine has been researched along with Intellectual Disability in 14 studies

Research

Studies (14)

TimeframeStudies, this research(%)All Research%
pre-19906 (42.86)18.7374
1990's1 (7.14)18.2507
2000's1 (7.14)29.6817
2010's2 (14.29)24.3611
2020's4 (28.57)2.80

Authors

AuthorsStudies
Cheng, G; Cui, S; Dong, Y; Du, K; Li, H; Li, Y; Liu, L; Ren, C; Wang, H; Wang, J; Xia, L; Xu, Y; Yang, B; Zhang, X; Zhu, C1
Bloom, LB; Chang, MC; Collins Ruff, K; Franz, DN; Kilberg, MS; McKenna, R; Merritt, ME; Qian, Z; Staklinski, SJ; Yu, F1
Bekri, S; Guerrot, AM; Kilberg, MS; Lecoquierre, F; Snanoudj, S; Staklinski, SJ; Vanhulle, C1
Chang, MC; Kilberg, MS; Malut, VR; Merritt, ME; Pierre, GL; Staklinski, SJ1
Agrawal, PB; Dudenhausen, EE; El Achkar, CM; Genetti, CA; Kilberg, MS; Lomelino, CL; McKenna, R; Olson, HE; Rodan, L; Sacharow, SJ1
Buckley, MF; Bye, A; Cardamone, M; Cowley, MJ; Dias, KR; Dinger, ME; Hayner, J; Kandula, T; Kilberg, MS; Kirk, EP; Macintosh, R; Miller, D; Morris, P; Palmer, EE; Roscioli, T; Sachdev, R; Tao, J; Zhu, Y1
BESSMAN, SP; MEISTER, A; UDENFRIEND, S1
Fischer, U; Keidel, EM; Laggerbauer, B; Ostareck, D; Ostareck-Lederer, A1
Borud, O; Torp, KH1
Bardet, J; de Blois, MC; Kamoun, P; Lejeune, J; Parvy, P; Peeters, M; Rabier, D; Rethoré, MO1
Jenner, FA; Merskey, H; Pollitt, RJ1
Pollitt, RJ; Pretty, KM1
Durey, D; Landry, M1
Hirsch, W; Mex, A; Vogel, F1

Trials

1 trial(s) available for asparagine and Intellectual Disability

ArticleYear
[Results of clinical experimentation with arginine N-acetyl-asparaginate (C.E. 387) in 2 groups of mentally deficient children (double blind study)].
    Revue de neuropsychiatrie infantile et d'hygiene mentale de l'enfance, 1966, Volume: 14, Issue:9

    Topics: Arginine; Asparagine; Child; Clinical Trials as Topic; Female; Humans; Intellectual Disability; Male

1966

Other Studies

13 other study(ies) available for asparagine and Intellectual Disability

ArticleYear
An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency.
    Clinica chimica acta; international journal of clinical chemistry, 2022, Jun-01, Volume: 531

    Topics: Amino Acid Metabolism, Inborn Errors; Asparagine; Aspartate-Ammonia Ligase; Drug Resistant Epilepsy; Humans; Intellectual Disability; Microcephaly; Mutation; Neurodegenerative Diseases; Phenotype

2022
Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency.
    The Journal of biological chemistry, 2022, Volume: 298, Issue:9

    Topics: Adenosine Triphosphate; Amino Acid Metabolism, Inborn Errors; Asparagine; Aspartate-Ammonia Ligase; Atrophy; Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor; Child; HEK293 Cells; Humans; Intellectual Disability; Microcephaly; Mutation; Neurodegenerative Diseases

2022
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency.
    International journal of molecular sciences, 2022, Dec-29, Volume: 24, Issue:1

    Topics: Asparagine; Aspartate-Ammonia Ligase; Atrophy; Child; Humans; Intellectual Disability; Microcephaly; Nervous System Malformations; Seizures

2022
Metabolomic Profiling of Asparagine Deprivation in Asparagine Synthetase Deficiency Patient-Derived Cells.
    Nutrients, 2023, Apr-18, Volume: 15, Issue:8

    Topics: Amino Acid Metabolism, Inborn Errors; Asparagine; Aspartate-Ammonia Ligase; Aspartic Acid; Atrophy; Humans; Intellectual Disability; Microcephaly

2023
Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.
    Molecular genetics and metabolism, 2018, Volume: 123, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Asparagine; Aspartate-Ammonia Ligase; Binding Sites; Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor; Child; Child, Preschool; Consanguinity; DNA Mutational Analysis; Female; Fibroblasts; Glutamine; Homozygote; Humans; Intellectual Disability; Male; Models, Molecular; Mutation; Seizures; Siblings

2018
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.
    Molecular genetics and metabolism, 2015, Volume: 116, Issue:3

    Topics: Adenosine Triphosphate; Asparagine; Aspartate-Ammonia Ligase; Binding Sites; Cell Proliferation; Cells, Cultured; Computer Simulation; Culture Media; Exome; Female; Fibroblasts; Humans; Intellectual Disability; Male; Mutation; Sequence Analysis, DNA

2015
Diminished phenylketonuria in phenylpyruvic oligophrenia after administration of L-glutamine, L-glutamate or L-asparagine.
    The Journal of clinical investigation, 1956, Volume: 35, Issue:6

    Topics: Asparagine; Body Fluids; Glutamic Acid; Glutamine; Humans; Intellectual Disability; Ketones; Phenylketonurias; Urine

1956
Evidence that fragile X mental retardation protein is a negative regulator of translation.
    Human molecular genetics, 2001, Feb-15, Volume: 10, Issue:4

    Topics: Animals; Asparagine; Fragile X Mental Retardation Protein; Fragile X Syndrome; Humans; Intellectual Disability; Isoleucine; Microinjections; Mutagenesis, Site-Directed; Nerve Tissue Proteins; Oocytes; Peptide Chain Initiation, Translational; Protein Biosynthesis; Rabbits; Repressor Proteins; Ribosomal Proteins; RNA-Binding Proteins; RNA, Messenger; Xenopus laevis; Xenopus Proteins

2001
[Aspartylglucosaminuria. A hereditary disease with unusual high incidence among Finns in northern Norway].
    Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1978, Aug-30, Volume: 98, Issue:24

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Asparagine; Aspartylglucosaminuria; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Female; Finland; Glucosamine; Humans; Infant; Intellectual Disability; Male; Norway

1978
[Cri-du-chat disease: plasma and urinary amino acids].
    Annales de genetique, 1990, Volume: 33, Issue:1

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Asparagine; Aspartic Acid; Child; Child, Preschool; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosome Mapping; Chromosomes, Human, Pair 5; Cri-du-Chat Syndrome; Female; Histidine; Humans; Intellectual Disability; Male; Models, Biological; Purine-Pyrimidine Metabolism, Inborn Errors

1990
Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.
    Lancet (London, England), 1968, Aug-03, Volume: 2, Issue:7562

    Topics: Adult; Asparagine; Aspartic Acid; Female; Glucosamine; Glucosidases; Glycoproteins; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors; Oligosaccharides; Peptide Hydrolases

1968
Glycoasparagines in the urine of patients with aspartylglycosaminuria.
    The Biochemical journal, 1972, Volume: 128, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Asparagine; Aspartic Acid; Chromatography; Chromatography, Ion Exchange; Fucose; Galactose; Humans; Hydrogen-Ion Concentration; Intellectual Disability; Molecular Weight

1972
Metabolic traits in mentally retarded children as compared with normal populations: monoaminodicarboxylic acids and their half amides and total amino acids.
    Journal of mental deficiency research, 1969, Volume: 13, Issue:2

    Topics: Adolescent; Alanine; Amino Acids; Arginine; Asparagine; Aspartic Acid; Child; Child, Preschool; Chromatography; Chromatography, Paper; Female; Glutamates; Glutamine; Glycine; Humans; Intellectual Disability; Male

1969