Page last updated: 2024-09-03

n-acetylglucosaminylasparagine and acetylglucosamine

n-acetylglucosaminylasparagine has been researched along with acetylglucosamine in 110 studies

Compound Research Comparison

Studies
(n-acetylglucosaminylasparagine)
Trials
(n-acetylglucosaminylasparagine)
Recent Studies (post-2010)
(n-acetylglucosaminylasparagine)
Studies
(acetylglucosamine)
Trials
(acetylglucosamine)
Recent Studies (post-2010) (acetylglucosamine)
111035,674312,001

Protein Interaction Comparison

ProteinTaxonomyn-acetylglucosaminylasparagine (IC50)acetylglucosamine (IC50)
Cytochrome P450 3A4Homo sapiens (human)1.9953
Cannabinoid receptor 1Rattus norvegicus (Norway rat)2.5119
Killer cell lectin-like receptor subfamily B member 1ARattus norvegicus (Norway rat)2.2536

Research

Studies (110)

TimeframeStudies, this research(%)All Research%
pre-199041 (37.27)18.7374
1990's53 (48.18)18.2507
2000's12 (10.91)29.6817
2010's3 (2.73)24.3611
2020's1 (0.91)2.80

Authors

AuthorsStudies
Borud, O; Lie, SO; Strömme, JH; Torp, KH1
Maury, P1
Kärkkäinen, J; Maury, P1
Dilling, LA; Haworth, JC; Seargeant, LE1
Ikonen, E; Peltonen, L1
Bonnaure, M; Jezequel, C; Le Berre, C; Loiseau-Corvez, MN1
Aula, P; Bengtström, M; Ikonen, E; Manninen, T; Peltonen, L; Söderlund, H; Syvänen, AC1
Aula, P; Grön, K; Halila, R; Ikonen, E; Manninen, T; Peltonen, L; Syvänen, AC; Tollersrud, O1
Hirabayashi, Y; Ikeda, S; Tsuji, S; Yamauchi, T; Yanagisawa, N; Yoshida, K1
Aronson, NN; Fisher, KJ; Park, H1
Airaksinen, E; Matilainen, R; Mononen, I; Mononen, T1
Aronson, NN; Fisher, KJ2
Apiou, J; Bonnaure-Mallet, M; Goasguen, J; Jezequel, C; Loiseau-Corvez, MN1
Kaartinen, V; Mononen, I3
Arvio, M; Autio, S; Humaloja, K; Palo, J; Salaspuro, M; Salmela, K1
Alhadeff, JA; Argade, SP; Daves, GD; Van Halbeek, H1
Mononen, TK1
Schmidt, H; Sewell, AC; Ullrich, K; von Lengerke, JH; Weglage, J; Ziegler, R1
Heino, J; Larjava, H; Näntö-Salonen, K; Pelliniemi, LJ; Penttinen, R; Säämanen, AM; Tammi, M1
Kaartinen, V; Mononen, I; Mononen, T2
Rudy, JL1
Chitayat, D; Goldman, HS; Hahm, SY; Marion, RW; Nakagawa, S; Sachs, GS1
Alfthan, G; Halme, T; Langevelde, FV; Näntö-Salonen, K; Penttinen, R; Vis, RD1
Mononen, I; Mononen, T; Parviainen, M; Penttilä, I1
Aalto, M; Kivimäki, T; Larjava, H; Näntö-Salonen, K1
Allen, JT; Goodall, R; Henderson, MJ; Holton, JB1
Bendiak, B; Cumming, DA1
Haltia, M; Maury, CP; Palo, J1
Suzuki, Y1
O'Brien, JS; Warner, TG1
Autio, S; Härö, E; Kivimäki, T; Koskela, SL; Näntö, V; Näntö-Salonen, K; Penttinen, R1
Ammälä, P; Aula, P; Rapola, J; von Koskull, H1
Caprari, P; Di Dio, R; Musumeci, S; Salvati, A; Salvo, G; Schiliró, G1
Autio, S; Kivimäki, T; Näntö-Salonen, K; Pelliniemi, LJ; Penttinen, R; Rapola, J1
Autio, S; Simell, O; Sipilä, I1
Shimizu, S; Takahashi, N; Yamada, K1
Becker, C; Gehler, J; Hartmann, J; Sewell, AC; Spranger, J2
Maury, CP3
Näntö-Salonen, K; Penttinen, R1
Ishihara, H; Sugiyama, K; Takahashi, N; Tejima, S1
Blumberg, K; Brown, JN; Bush, CA1
Nishibe, H; Takahashi, T1
Carter, RJ; Snyder, FF1
Jeanloz, RW; Kaifu, R; Matsumoto, I; Osawa, T; Walker-Nasir, E1
Maury, P; Palo, J1
Marnela, KM1
Maury, CP; Palo, J1
Ando, S; Hirabayashi, Y; Irie, F; Kon, K; Murakoshi, H; Suzuki, T; Suzuki, Y; Yoshida, K1
Danos, O; Enomaa, N; Jalanko, A; Peltonen, L1
Bardet, J; Candito, M; Chambon, P; Kamoun, P; Mariani, R; Parvy, P; Rabier, D1
Aula, P; Hietala, M; Isoniemi, A; Jalanko, A; Peltonen, L1
Airaksinen, E; Kääriäinen, R; Launiala, K; Matilainen, R; Mononen, T1
Ankener, W; Brainerd, S; Delahunty, CM; Mononen, IT; Nickerson, DA1
Rapola, J1
Dunder, U; Groffen, J; Heisterkamp, N; Kuronen, I; Mononen, I; Noronkoski, T; Romppanen, EL1
Mononen, I; Mononen, T; Savolainen, K; Ylikangas, P1
Borud, O; Nilssen, O; Tollersrud, OK; Tranebjaerg, L2
Aula, P; Gray, GR; Keulemans, JL; Kleijer, WJ; van Diggelen, OP1
Kaartinen, V; Mononen, I; Mononen, T; Savolainen, K; Ylikangas, P1
Järveläinen, HT; Määttä, A; Nelimarkka, LO; Penttinen, RP1
Ikonen, E; Peltonen, L; Syvänen, AC1
Arvio, M; Autio, S; Gaily, E; Oksanen, V; Sainio, K1
Enomaa, N; Halila, R; Ikonen, E; Peltonen, L; Syvänen, AC; Tollersrud, O1
Aronson, NN; Fisher, KJ; Kaartinen, V; Mononen, I1
Yoshida, K1
Kaartinen, VM; Mononen, IT; Williams, JC1
Aronson, NN; Fensom, AH; Fisher, KJ; Park, H; Vettese, MB1
Arvio, M1
Aikawa, J; Kigawa, T; Kirsch, P; Kusunose, N; Ogawa, T; Yokoyama, S1
Aula, P; Hietala, M; Isoniemi, A; Palotie, A; Peltonen, L; Syvänen, AC1
Aronson, NN; Fensom, AH; Park, H; Rossiter, M; Winchester, B1
Gonzalez-Gomez, I; Groffen, J; Heisterkamp, N; Kaartinen, V; Mononen, I; Noronkoski, T; Voncken, JW1
Aula, P; Greenberg, CR; Haworth, JC; Hietala, M; Laitinen, A; Schroeder, ML; Seargeant, LE1
Autti, T; Ginns, EI; Ikonen, S; Jalanko, A; Joensuu, R; LaMarca, ME; Manninen, T; McKinney, CE; Peltonen, L; Rapola, J; Riekkinen, P; Sipilä, I; Tenhunen, K1
Abu-Libdeh, BY; Ben-Neriah, Z; Sury, V; Zeigler, M; Zlotogora, J1
Yamaguchi, S1
Gonzalez-Gomez, I; Groffen, J; Heisterkamp, N; Kaartinen, V; Mononen, I; Noronkoski, T1
Klich, G; Paulsen, H; Schäfer, A; Schreiber, M; Thiem, J1
Arvio, M; Arvio, P; Kero, M; Lukinmaa, PL; Pirinen, S1
Arvio, M; Arvio, P; Marttinen, E; Pirinen, S; Sipilä, I1
Fahlman, C; Jalanko, A; Karlsson, S; Laine, M; Peltonen, L; Rapola, J; Renlund, M; Richter, J1
Mononen, I; Romppanen, EL1
Aronson, NN1
Aro, AR; Aula, P; Hakonen, A; Hietala, M; Niemelä, P; Peltonen, L1
Dunder, U; Groffen, J; Heisterkamp, N; Kaartinen, V; Kosma, VM; Mononen, I; Väänänen, E; Valtonen, P1
Aula, P; Hietala, M; Savontaus, ML; Valkonen, S1
Cooper, A; Forsyth, JM; Guy, R; Morton, RE1
Kaylor, JJ; Risley, JM1
Dunder, U; Mononen, I1
Huang, DH; Kaylor, JJ; Malik, JJ; Risley, JM; Xia, YQ; York, WM1
Huang, DH; Kaylor, JJ; Malik, JJ; Risley, JM; Xia, YQ1
Chabás, A; Coll, MJ; Fernández-Herrera, JM; García-Díez, A; Sánchez-Pérez, J; Vargas-Díez, E1
Annesi, G; Barone, R; Civitelli, D; Fiumara, A; Gambardella, A; Labate, A; Pavone, L; Quattrone, A; Zappia, M1
Malm, G; Månsson, JE; Mosskin, M; Ringdén, O; Winiarski, J1
Arvio, M; Arvio, P; Hurmerinta, K; Pirinen, S; Sillanpää, M1
Heiskala, H; Kaski, M; Kivinen, S; Laakso, ML; Lindblom, N1
Autti, T; Joensuu, R; Lönnqvist, T1
Dunder, U; Kelo, E; Mononen, I; Valtonen, P1
Miyashita, C; Tsukamoto, H; Yamamoto, A1
Arvio, M; Mononen, I1
Couse, MH; de Sain-van der Velden, MGM; Friedman, JM; Gerrits, J; Haijes, HA; Jans, JJM; Prinsen, HCMT; Selby, KA; van der Ham, M; van Hasselt, PM; van Karnebeek, CDM; Verhoeven-Duif, NM; Willems, AP1
Asahina, M; Fujinawa, R; Hirayama, H; Kajii, Y; Suzuki, T; Tozawa, R1

Reviews

12 review(s) available for n-acetylglucosaminylasparagine and acetylglucosamine

ArticleYear
Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease.
    Human mutation, 1992, Volume: 1, Issue:5

    Topics: Acetylglucosamine; Amino Acid Sequence; Aspartylglucosaminuria; Aspartylglucosylaminase; Base Sequence; DNA; DNA Mutational Analysis; Finland; Gene Frequency; Genetic Carrier Screening; Humans; Lysosomal Storage Diseases; Molecular Structure; Phenotype

1992
[Mucopolysaccharidoses and disorders of glycoprotein metabolism].
    Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1984, Volume: 29, Issue:14

    Topics: Acetylglucosamine; Carbohydrate Metabolism, Inborn Errors; Glycoproteins; Glycosaminoglycans; Humans; Mucopolysaccharidoses; Structure-Activity Relationship

1984
Genetic defects in glycoprotein metabolism.
    Annual review of genetics, 1983, Volume: 17

    Topics: Acetylglucosamine; Carbohydrate Metabolism, Inborn Errors; Gangliosidoses; Glycoproteins; Humans; Mannosides; Metabolism, Inborn Errors; Mucolipidoses; Oligosaccharides; Sialic Acids

1983
Aspartylglycosaminuria: an inborn error of glycoprotein catabolism.
    Journal of inherited metabolic disease, 1982, Volume: 5, Issue:4

    Topics: Acetylglucosamine; Brain; Glucosamine; Glycoproteins; Humans; Liver; Metabolism, Inborn Errors

1982
Lysosomal storage diseases in adults.
    Pathology, research and practice, 1994, Volume: 190, Issue:8

    Topics: Acetylglucosamine; Adult; Age of Onset; Aspartylglucosaminuria; G(M2) Ganglioside; Gangliosidoses; Gangliosidosis, GM1; Gaucher Disease; Humans; Leukodystrophy, Metachromatic

1994
Dissection of the molecular pathology of aspartylglucosaminuria provides the basis for DNA diagnostics and future therapeutic interventions.
    Scandinavian journal of clinical and laboratory investigation. Supplementum, 1993, Volume: 213

    Topics: Acetylglucosamine; Aspartylglucosaminuria; Aspartylglucosylaminase; DNA; Finland; Humans; Lysosomal Storage Diseases; Mutation

1993
Aspartylglucosaminuria (AGU): protein and gene structure of normal and mutated aspartylglucosaminidase.
    Biochemical medicine and metabolic biology, 1993, Volume: 50, Issue:1

    Topics: Acetylglucosamine; Animals; Aspartylglucosylaminase; Humans; Mutation

1993
Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation.
    FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 1993, Volume: 7, Issue:13

    Topics: Acetylglucosamine; Amino Acid Sequence; Aminolevulinic Acid; Animals; Aspartylglucosylaminase; Base Sequence; Biological Evolution; Carbohydrate Sequence; DNA, Complementary; Glycoproteins; Humans; Lysosomal Storage Diseases; Molecular Sequence Data; Mutation

1993
[Aspartylglucosaminuria].
    Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2

    Topics: Acetylglucosamine; Aspartylglucosaminuria; Aspartylglucosylaminase; Biomarkers; Diagnosis, Differential; Humans; Lysosomal Storage Diseases; Prognosis

1998
Aspartylglycosaminuria: biochemistry and molecular biology.
    Biochimica et biophysica acta, 1999, Oct-08, Volume: 1455, Issue:2-3

    Topics: Acetylglucosamine; Amino Acid Sequence; Animals; Aspartylglucosylaminase; Base Sequence; Disease Models, Animal; DNA, Complementary; Evolution, Molecular; Finland; Gene Deletion; Gene Rearrangement; Glycoproteins; Humans; Lysosomal Storage Diseases; Lysosomes; Molecular Sequence Data; Mutation; Mutation, Missense

1999
Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria.
    The British journal of dermatology, 2002, Volume: 147, Issue:4

    Topics: Acetylglucosamine; Adult; Aspartylglucosaminuria; Disease Progression; Fabry Disease; Female; Follow-Up Studies; Humans; Macroglossia; Skin Diseases, Genetic

2002
Aspartylglycosaminuria: a review.
    Orphanet journal of rare diseases, 2016, 12-01, Volume: 11, Issue:1

    Topics: Acetylglucosamine; Animals; Aspartylglucosaminuria; Aspartylglucosylaminase; Glycoproteins; Humans; Lysosomal Storage Diseases; Mutation

2016

Other Studies

98 other study(ies) available for n-acetylglucosaminylasparagine and acetylglucosamine

ArticleYear
Aspartylglycosaminuria in Northern Norway in eight patients: clinical heterogeneity and variations with the diet.
    Journal of inherited metabolic disease, 1978, Volume: 1, Issue:3

    Topics: Acetylglucosamine; Adolescent; Adult; Amidohydrolases; Aspartic Acid; Aspartylglucosaminuria; Child; Child, Preschool; Creatinine; Dietary Proteins; Female; Glucosamine; Humans; Intellectual Disability; Male; Mucolipidoses

1978
Quantitative determination of 4-N-2-acetamido-2-deoxy-beta-D-glucopyranosyl-L-asparagine in the urine of patients with aspartylglycosaminuria by gas-liquid chromatography.
    The Journal of laboratory and clinical medicine, 1979, Volume: 93, Issue:5

    Topics: Acetylglucosamine; Adolescent; Adult; Asparagine; Child; Child, Preschool; Chromatography, Gas; Female; Gas Chromatography-Mass Spectrometry; Glucosamine; Humans; Male; Mucolipidoses

1979
Identification of 4-N-2-acetamido-2-deoxy-beta-D-glucopyranosyl-L-asparagine in biological materials by gas chromatography-mass spectrometry.
    Clinica chimica acta; international journal of clinical chemistry, 1979, Jan-01, Volume: 91, Issue:1

    Topics: Acetylglucosamine; Adult; Asparagine; Chromatography, Gas; Female; Glucosamine; Glycopeptides; Humans; Mass Spectrometry; Mucolipidoses; Ovalbumin

1979
Aspartylglycosaminuria presenting with hepatosplenomegaly in early infancy.
    Journal of inherited metabolic disease, 1992, Volume: 15, Issue:6

    Topics: Acetylglucosamine; Amino Acid Metabolism, Inborn Errors; Female; Hepatomegaly; Humans; Infant, Newborn; Splenomegaly

1992
[Diagnosis of aspartylglycosaminuria in a nine year-old girl admitted to pediatric psychiatry].
    Pediatrie, 1992, Volume: 47, Issue:3

    Topics: Acetylglucosamine; Child; Child Psychiatry; Female; Humans; Mental Disorders; Metabolism, Inborn Errors

1992
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.
    Genomics, 1992, Volume: 12, Issue:3

    Topics: Acetylglucosamine; Alleles; Aspartylglucosylaminase; Base Sequence; DNA; Finland; Gene Frequency; Genetic Carrier Screening; Genetic Techniques; Humans; Leukocytes; Lysosomal Storage Diseases; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; Polymerase Chain Reaction; Prevalence

1992
Spectrum of mutations in aspartylglucosaminuria.
    Proceedings of the National Academy of Sciences of the United States of America, 1991, Dec-15, Volume: 88, Issue:24

    Topics: Acetylglucosamine; Adolescent; Adult; Alleles; Aspartylglucosaminuria; Aspartylglucosylaminase; Base Sequence; Cell Line; Child; Child, Preschool; Chromosome Deletion; Codon; DNA; DNA Transposable Elements; Fibroblasts; Humans; Infant; Leukocytes; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; Polymerase Chain Reaction; Polymorphism, Genetic; RNA; RNA Splicing

1991
Two Japanese cases with aspartylglycosaminuria: clinical and morphological features.
    Clinical genetics, 1991, Volume: 40, Issue:4

    Topics: Acetylglucosamine; Adult; Angiokeratoma; Aspartylglucosaminuria; Carbohydrate Sequence; Epilepsies, Myoclonic; Female; Humans; Intellectual Disability; Japan; Molecular Sequence Data; Oligosaccharides; Rectum; Skin Neoplasms

1991
Genomic structure of human lysosomal glycosylasparaginase.
    FEBS letters, 1991, Aug-19, Volume: 288, Issue:1-2

    Topics: Acetylglucosamine; Aspartylglucosylaminase; Base Sequence; Binding Sites; Exons; Glycosuria; Humans; Introns; Lysosomes; Molecular Sequence Data; Mutation; Promoter Regions, Genetic; Protein Processing, Post-Translational; TATA Box

1991
High prevalence of aspartylglycosaminuria among school-age children in eastern Finland.
    Human genetics, 1991, Volume: 87, Issue:3

    Topics: Acetylglucosamine; Aspartylglucosaminuria; Child; Finland; Humans; Intellectual Disability; Metabolism, Inborn Errors; Prevalence

1991
Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient.
    FEBS letters, 1991, Aug-19, Volume: 288, Issue:1-2

    Topics: Acetylglucosamine; Amino Acid Sequence; Aspartylglucosaminuria; Aspartylglucosylaminase; Base Sequence; Black People; Child; Chromosome Deletion; Exons; Fluorescent Antibody Technique; Glycosuria; Humans; Male; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Protein Conformation; RNA Splicing

1991
Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits.
    The Journal of biological chemistry, 1991, Jun-25, Volume: 266, Issue:18

    Topics: Acetylglucosamine; Amino Acid Sequence; Aspartylglucosylaminase; Base Sequence; Blotting, Northern; Blotting, Southern; Cysteine; DNA; Fibroblasts; Finland; Humans; Lysosomes; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Protein Biosynthesis; Restriction Mapping; RNA, Messenger; Serine

1991
Gingival biopsy in diagnosis of inborn storage diseases: a case of aspartylglycosaminuria.
    Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 1991, Volume: 20, Issue:5

    Topics: Acetylglucosamine; Acetylglucosaminidase; Biopsy; Child; Female; Gingiva; Humans; Lysosomes; Macroglossia; Mucolipidoses; Tooth Abnormalities; Tooth Eruption

1991
Detection of aspartylglycosaminuria using urine specimens recovered from absorbent filter paper.
    Clinica chimica acta; international journal of clinical chemistry, 1990, Oct-31, Volume: 191, Issue:1-2

    Topics: Acetylglucosamine; Adolescent; Adult; Aspartylglucosaminuria; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Paper; Specimen Handling

1990
Assay of aspartylglycosylaminase by high-performance liquid chromatography.
    Analytical biochemistry, 1990, Volume: 190, Issue:1

    Topics: Acetylglucosamine; Amniotic Fluid; Aspartic Acid; Aspartylglucosylaminase; Brain; Carbocysteine; Chorion; Chromatography, High Pressure Liquid; Female; Humans; Isothiocyanates; Leukocytes; Lung; Pregnancy; Reference Standards; Spectrophotometry, Ultraviolet; Thiocyanates

1990
Elevated levels of serum dolichol in aspartylglucosaminuria.
    Life sciences, 1990, Volume: 47, Issue:7

    Topics: Acetylglucosamine; Adult; alpha-Mannosidosis; Dolichols; Female; Glucosamine; Humans; Male; Metabolism, Inborn Errors; Middle Aged

1990
The effect of alkaline borohydride treatment on N-linked carbohydrates of glycoproteins.
    Glycoconjugate journal, 1989, Volume: 6, Issue:1

    Topics: Acetylglucosamine; Animals; Borohydrides; Carbohydrate Conformation; Carbohydrate Sequence; Cattle; Chromatography, Gel; Chromatography, Thin Layer; Glycoproteins; Indicators and Reagents; Magnetic Resonance Spectroscopy; Molecular Sequence Data; Myoglobin; Oligosaccharides; Pancreas; Ribonuclease, Pancreatic; Ribonucleases; Whales

1989
Aspartylglucosamine excretion in heterozygous carriers of aspartylglycosaminuria.
    Clinica chimica acta; international journal of clinical chemistry, 1989, Mar-15, Volume: 180, Issue:1

    Topics: Acetylglucosamine; Amidohydrolases; Aspartylglucosaminuria; Glucosamine; Heterozygote; Humans

1989
Analysis of aspartylglucosamine at the picomole level by high-performance liquid chromatography.
    Journal of chromatography, 1989, May-30, Volume: 490, Issue:2

    Topics: Acetylglucosamine; Adolescent; Adult; Child; Chromatography, High Pressure Liquid; Glucosamine; Humans; Leukocytes; Spectrophotometry, Ultraviolet

1989
[Aspartylglucosaminuria. Clinical description of 2 German patients].
    Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde, 1989, Volume: 137, Issue:8

    Topics: Abnormalities, Multiple; Acetylglucosamine; Adolescent; Amidohydrolases; Aspartylglucosaminuria; Child; Child Development; Female; Fibroblasts; Humans; Intellectual Disability; Leukocytes; Risk Factors

1989
Abnormal dermal proteoglycan in aspartylglycosaminuria: a possible mechanism for ultrastructural changes of collagen fibrils in a glycoprotein storage disorder.
    Connective tissue research, 1987, Volume: 16, Issue:4

    Topics: Acetylglucosamine; Adolescent; Adult; Amidohydrolases; Aspartylglucosaminuria; Chondroitin Lyases; Chondroitin Sulfates; Collagen; Dermatan Sulfate; Electrophoresis, Polyacrylamide Gel; Female; Glucosamine; Glucuronates; Glucuronic Acid; Heparitin Sulfate; Humans; Male; Microscopy, Electron; Proteoglycans; Skin

1987
Amniotic fluid glycoasparagines in fetal aspartylglycosaminuria.
    Journal of inherited metabolic disease, 1988, Volume: 11, Issue:2

    Topics: Acetylglucosamine; Amidohydrolases; Amniotic Fluid; Aspartylglucosaminuria; Female; Galactose; Glycopeptides; Humans; Pregnancy

1988
Aspartylglycosaminuria diagnosed by routine urine amino acid assay.
    Clinical chemistry, 1988, Volume: 34, Issue:10

    Topics: Acetylglucosamine; Amino Acid Metabolism, Inborn Errors; Diagnostic Tests, Routine; Glucosamine; Glycoside Hydrolases; Humans

1988
Aspartylglucosaminuria in a Puerto Rican family: additional features of a panethnic disorder.
    American journal of medical genetics, 1988, Volume: 31, Issue:3

    Topics: Acetylglucosamine; Adolescent; Amidohydrolases; Aspartylglucosylaminase; Consanguinity; Diseases in Twins; Genes, Recessive; Gonadal Dysgenesis; Humans; Male; Pedigree; Puerto Rico; Spondylolisthesis; Spondylolysis; Testis

1988
Laboratory detection of aspartylglycosaminuria.
    Scandinavian journal of clinical and laboratory investigation. Supplementum, 1988, Volume: 191

    Topics: Acetylglucosamine; Amidohydrolases; Amniotic Fluid; Aspartylglucosaminuria; Genetic Carrier Screening; Glycoproteins; Humans; Metabolism, Inborn Errors

1988
Disturbed metabolism of copper and zinc in aspartylglycosaminuria: possible involvement with connective tissue changes.
    Journal of inherited metabolic disease, 1985, Volume: 8, Issue:4

    Topics: Acetylglucosamine; Adolescent; Adult; Amidohydrolases; Aspartylglucosaminuria; Cells, Cultured; Child; Copper; Female; Fibroblasts; Glucosamine; Hair; Humans; Male; Metabolism, Inborn Errors; Zinc

1985
Liquid-chromatographic detection of aspartylglycosaminuria.
    Clinical chemistry, 1986, Volume: 32, Issue:3

    Topics: Acetylglucosamine; Adolescent; Adult; Amidohydrolases; Aspartylglucosaminuria; Child; Child, Preschool; Chromatography, High Pressure Liquid; Female; Glucosamine; Humans; Infant; Male

1986
Urinary glycosaminoglycans in aspartylglycosaminuria: evidence for disturbed proteoglycan metabolism.
    Clinica chimica acta; international journal of clinical chemistry, 1985, Mar-15, Volume: 146, Issue:2-3

    Topics: Acetylglucosamine; Adolescent; Adult; Chromatography, High Pressure Liquid; Chromatography, Thin Layer; Electrophoresis, Cellulose Acetate; Female; Glucosamine; Glycoproteins; Glycosaminoglycans; Humans; Male; Metabolism, Inborn Errors

1985
Extra heating of amino acids.
    Clinica chimica acta; international journal of clinical chemistry, 1985, Mar-15, Volume: 146, Issue:2-3

    Topics: Acetylglucosamine; Amino Acids; Child, Preschool; Chromatography, Thin Layer; Colorimetry; Fucosidosis; Hot Temperature; Humans; Metabolism, Inborn Errors; Methylhistidines

1985
Hydrazinolysis-N-reacetylation of glycopeptides and glycoproteins. Model studies using 2-acetamido-1-N-(L-aspart-4-oyl)-2-deoxy-beta-D-glucopyranosy lamine.
    Carbohydrate research, 1985, Nov-15, Volume: 144, Issue:1

    Topics: Acetylation; Acetylglucosamine; Chemical Phenomena; Chemistry; Glucosamine; Glycopeptides; Glycoproteins; Hydrazines; Hydrolysis; Indicators and Reagents; Magnetic Resonance Spectroscopy

1985
Regional distribution of glycoasparagine storage material in the brain in aspartylglycosaminuria.
    Journal of the neurological sciences, 1981, Volume: 50, Issue:2

    Topics: Acetylglucosamine; Adult; Asparagine; Aspartic Acid; Axonal Transport; Brain; Capillaries; Endothelium; Glucosamine; Glycopeptides; Humans; Lysosomes; Male; Microscopy, Electron; Nerve Fibers, Myelinated; Neurons

1981
Metabolism of collagen in aspartylglycosaminuria: urinary excretion of hydroxyproline.
    Journal of inherited metabolic disease, 1984, Volume: 7, Issue:3

    Topics: Acetylglucosamine; Adolescent; Adult; Age Factors; Child; Child, Preschool; Collagen; Connective Tissue Diseases; Female; Glucosamine; Humans; Hydroxyproline; Infant; Intellectual Disability; Male; Metabolism, Inborn Errors; Middle Aged; Reference Values

1984
Prenatal diagnosis and fetal pathology of aspartylglucosaminuria.
    American journal of medical genetics, 1984, Volume: 19, Issue:2

    Topics: Acetylglucosamine; Amidohydrolases; Amniotic Fluid; Aspartylglucosaminuria; Aspartylglucosylaminase; Cells, Cultured; Chorionic Villi; Female; Fetus; Glucosamine; Heterozygote; Humans; Lysosomes; Male; Pregnancy; Prenatal Diagnosis

1984
Homozygous NADH-methemoglobin reductase and aspartylglucosaminidase deficiencies in a moderately retarded Sicilian child.
    American journal of medical genetics, 1984, Volume: 19, Issue:4

    Topics: Acetylglucosamine; Adult; Amidohydrolases; Aspartylglucosaminuria; Child; Cytochrome-B(5) Reductase; Female; Humans; Intellectual Disability; Male; Methemoglobinemia; NADH, NADPH Oxidoreductases; Pedigree

1984
Abnormal collagen fibrils in aspartylglycosaminuria. Altered dermal ultrastructure in a glycoprotein storage disorder.
    Laboratory investigation; a journal of technical methods and pathology, 1984, Volume: 51, Issue:4

    Topics: Acetylglucosamine; Adult; Biopsy; Cells, Cultured; Child; Child, Preschool; Collagen; Female; Fibroblasts; Glucosamine; Glycogen Storage Disease; Humans; Male; Microscopy, Electron; Microscopy, Electron, Scanning; Skin

1984
Extra heating of TLC plates detects two lysosomal storage diseases, aspartylglucosaminuria and fucosidosis, during routine urinary amino acid screening.
    Clinica chimica acta; international journal of clinical chemistry, 1983, Sep-30, Volume: 133, Issue:2

    Topics: Acetylglucosamine; alpha-L-Fucosidase; Amidohydrolases; Amino Acids; Aspartylglucosaminuria; Chromatography, Thin Layer; Hot Temperature; Humans

1983
Histochemical demonstration of asparagine-linked oligosaccharides in glycoproteins of human placenta and umbilical cord tissues by means of almond glycopeptidase digestion.
    The Histochemical journal, 1983, Volume: 15, Issue:12

    Topics: 3,3'-Diaminobenzidine; Acetylglucosamine; Amidohydrolases; Concanavalin A; Female; Glycoproteins; Histocytochemistry; Humans; Lectins; Oligosaccharides; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; Periodic Acid-Schiff Reaction; Peroxidases; Placenta; Plant Lectins; Pregnancy; Umbilical Cord

1983
Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family.
    Helvetica paediatrica acta, 1981, Volume: 36, Issue:2

    Topics: Abnormalities, Multiple; Acetylglucosamine; Adult; Amidohydrolases; Aspartic Acid; Aspartylglucosaminuria; Child; Fabry Disease; Facial Bones; Female; Glucosamine; Humans; Intellectual Disability; Italy; Male; Pedigree; Skull

1981
Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics.
    Journal of inherited metabolic disease, 1981, Volume: 4, Issue:4

    Topics: Acetylglucosamine; Adult; Amidohydrolases; Aspartylglucosaminuria; Child; Consanguinity; Female; Glucosamine; Humans; Intellectual Disability; Leukocytes; Male; Oligosaccharides; Pedigree

1981
Metabolism of collagen in aspartylglycosaminuria: decreased synthesis by cultured fibroblasts.
    Journal of inherited metabolic disease, 1982, Volume: 5, Issue:4

    Topics: Acetylglucosamine; Aspartylglucosylaminase; Cells, Cultured; Collagen; Culture Media; Fibroblasts; Glucosamine; Humans; Procollagen; Proline

1982
Demonstration of a new glycopeptidase, from jack-bean meal, acting on aspartylglucosylamine linkages.
    Biochemical and biophysical research communications, 1983, Apr-15, Volume: 112, Issue:1

    Topics: Acetylglucosamine; Amidohydrolases; Ammonia; Asparagine; Chemical Phenomena; Chemistry; Fabaceae; Glucosamine; Hydrolysis; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; Plants, Medicinal; Structure-Activity Relationship

1983
Crystal structure and solution conformation of 1-N-acetyl-beta-D-glucopyranosyl amine: a model for the glycopeptide linkage.
    Biopolymers, 1982, Volume: 21, Issue:10

    Topics: Acetylglucosamine; Carbohydrate Conformation; Glucosamine; Glycopeptides; Solutions

1982
Almond glycopeptidase acting on aspartylglycosylamine linkages. Multiplicity and substrate specificity.
    Biochimica et biophysica acta, 1981, Feb-13, Volume: 657, Issue:2

    Topics: Acetylglucosamine; Amidohydrolases; Aspartic Acid; Glycopeptides; Hydrogen-Ion Concentration; Kinetics; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; Plants; Substrate Specificity

1981
Detection of aspartylglycosaminuria by gas--liquid chromatography.
    Clinical chemistry, 1981, Volume: 27, Issue:12

    Topics: Acetylglucosamine; Adolescent; Adult; Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Aspartylglucosaminuria; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Gas; Glucosamine; Humans; Middle Aged

1981
Measurement of aspartylglucosamine in physiological fluids with an amino acid analyzer: fused peak analysis with dual photometers.
    Analytical biochemistry, 1981, Sep-15, Volume: 116, Issue:2

    Topics: Acetylglucosamine; Amino Acids; Body Fluids; Glucosamine; Humans; Mathematics; Spectrophotometry; Urea

1981
Inhibitory activity of disaccharide-L-asparagine compounds against hemagglutination by various lectins.
    Carbohydrate research, 1981, Dec-01, Volume: 98, Issue:1

    Topics: Acetylglucosamine; Glycopeptides; Hemagglutination; Hemagglutination Inhibition Tests; Humans; Lectins; Oligosaccharides; Species Specificity; Structure-Activity Relationship

1981
Characterization of the storage material of peripheral lymphocytes in aspartylglycosaminuria.
    Clinical science (London, England : 1979), 1980, Volume: 58, Issue:2

    Topics: Acetylglucosamine; Adult; Amidohydrolases; Aspartic Acid; Aspartylglucosaminuria; Female; Gas Chromatography-Mass Spectrometry; Glucosamine; Humans; Lymphocytes; Vacuoles

1980
Automated ion-exchange chromatography in the detection of aspartylglucosaminuria.
    Journal of chromatography, 1980, Jun-13, Volume: 182, Issue:3-4

    Topics: Acetylglucosamine; Amidohydrolases; Aspartic Acid; Aspartylglucosaminuria; Autoanalysis; Chromatography, Ion Exchange; Glucosamine; Humans; Microchemistry

1980
Accumulation of glycoprotein-derived metabolites in neural and visceral tissue in aspartylglycosaminuria.
    The Journal of laboratory and clinical medicine, 1980, Volume: 96, Issue:5

    Topics: Acetylglucosamine; Amidohydrolases; Asparagine; Aspartylglucosaminuria; Glucosamine; Humans; Kidney; Nerve Tissue; Oligosaccharides; Spleen; Thyroid Gland; Tissue Distribution

1980
N-Acetylglucosamine-asparagine levels in tissues of patients with aspartylglycosaminuria.
    Clinica chimica acta; international journal of clinical chemistry, 1980, Dec-08, Volume: 108, Issue:2

    Topics: Acetylglucosamine; Adult; Amidohydrolases; Asparagine; Aspartic Acid; Aspartylglucosaminuria; Endocytosis; Female; Glucosamine; Glycoproteins; Humans; Lysosomes; Male; Tissue Distribution

1980
Characterization of four monosialo and a novel disialo Asn N-glycosides from the urine of a patient with aspartylglycosaminuria.
    Glycoconjugate journal, 1995, Volume: 12, Issue:3

    Topics: Acetylglucosamine; Adult; Carbohydrate Sequence; Chromatography, High Pressure Liquid; Female; Glycosides; Humans; Molecular Sequence Data

1995
Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer.
    Human gene therapy, 1995, Volume: 6, Issue:6

    Topics: Acetylglucosamine; Animals; Aspartylglucosaminuria; Aspartylglucosylaminase; Base Sequence; Cell Line; CHO Cells; Cricetinae; DNA Primers; Endocytosis; Feasibility Studies; Gene Transfer Techniques; Genetic Therapy; Humans; Lysosomal Storage Diseases; Molecular Sequence Data; Neurons; Recombinant Proteins; Retroviridae

1995
[Contribution of ion exchange chromatography of amino acids to the diagnosis of aspartylglucosaminuria].
    Annales de biologie clinique, 1995, Volume: 53, Issue:3

    Topics: Acetylglucosamine; Amino Acids; Aspartylglucosaminuria; Chromatography, Ion Exchange; Humans; Infant, Newborn; Urine

1995
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.
    Human mutation, 1995, Volume: 5, Issue:4

    Topics: Acetylglucosamine; Amino Acid Sequence; Aspartylglucosaminuria; Aspartylglucosylaminase; Base Sequence; Chromosome Mapping; DNA Mutational Analysis; Exons; Female; Finland; Humans; Lysosomal Storage Diseases; Male; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Sequence Deletion

1995
A population-based study on the causes of mild and severe mental retardation.
    Acta paediatrica (Oslo, Norway : 1992), 1995, Volume: 84, Issue:3

    Topics: Acetylglucosamine; Age Factors; Asphyxia Neonatorum; Case-Control Studies; Cerebral Hemorrhage; Child; Down Syndrome; Female; Fetal Alcohol Spectrum Disorders; Fetal Diseases; Finland; Fragile X Syndrome; Humans; Hypoglycemia; Infant, Newborn; Infections; Intellectual Disability; Male

1995
Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay.
    Clinical chemistry, 1995, Volume: 41, Issue:1

    Topics: Acetylglucosamine; Alleles; Aspartylglucosaminuria; Base Sequence; DNA Ligases; Finland; Heterozygote; Homozygote; Humans; Lysosomal Storage Diseases; Molecular Sequence Data; Mutation; Oligonucleotides; Polymerase Chain Reaction; Templates, Genetic

1995
Recombinant glycosylasparaginase and in vitro correction of aspartylglycosaminuria.
    FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 1995, Volume: 9, Issue:5

    Topics: 3T3 Cells; Acetylglucosamine; Amino Acid Metabolism, Inborn Errors; Animals; Aspartylglucosylaminase; Biological Transport; Cell Line, Transformed; Humans; Lymphocytes; Mice; Recombinant Proteins

1995
Neonatal detection of aspartylglycosaminuria.
    Lancet (London, England), 1994, May-21, Volume: 343, Issue:8908

    Topics: Acetylglucosamine; Aspartylglucosylaminase; Female; Fetal Blood; Finland; Humans; Infant, Newborn; Lysosomal Storage Diseases; Mass Screening

1994
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.
    Journal of medical genetics, 1994, Volume: 31, Issue:5

    Topics: Acetylglucosamine; Adult; Aspartylglucosaminuria; Aspartylglucosylaminase; Base Sequence; DNA Primers; Female; Finland; Genes, Recessive; Humans; Lysosomal Storage Diseases; Male; Middle Aged; Molecular Epidemiology; Molecular Sequence Data; Norway; Pedigree; Point Mutation; Polymorphism, Genetic; White People

1994
Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuria.
    Journal of inherited metabolic disease, 1993, Volume: 16, Issue:6

    Topics: Acetylglucosamine; Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Aspartylglucosylaminase; Chorionic Villi; Female; Fibroblasts; Fluorometry; Genetic Carrier Screening; Humans; Leukocytes; Pregnancy; Prenatal Diagnosis; Substrate Specificity

1993
Enzymatic diagnosis of aspartylglycosaminuria by fluorometric assay of glycosylasparaginase in serum, plasma, or lymphocytes.
    Clinical chemistry, 1994, Volume: 40, Issue:3

    Topics: Acetylglucosamine; Adolescent; Adult; Aged; Aspartylglucosylaminase; Child; Chromatography, High Pressure Liquid; DNA; Finland; Fluorometry; Humans; Hydrogen-Ion Concentration; Lymphocytes; Lysosomal Storage Diseases; Middle Aged; Mutation; Polymerase Chain Reaction; Reference Values

1994
Fibroblast expression of collagens and proteoglycans is altered in aspartylglucosaminuria, a lysosomal storage disease.
    Biochimica et biophysica acta, 1994, Feb-22, Volume: 1225, Issue:3

    Topics: Acetylglucosamine; Aspartylglucosaminuria; Cells, Cultured; Collagen; Extracellular Matrix; Fibroblasts; Humans; Lysosomal Storage Diseases; Procollagen; Proteoglycans; RNA, Messenger; Skin; Sulfur Radioisotopes

1994
Epileptic seizures in aspartylglucosaminuria: a common disorder.
    Acta neurologica Scandinavica, 1993, Volume: 87, Issue:5

    Topics: Acetylglucosamine; Adolescent; Adult; Anticonvulsants; Cerebral Cortex; Child; Chromosome Aberrations; Chromosome Disorders; Dose-Response Relationship, Drug; Electroencephalography; Epilepsies, Partial; Evoked Potentials; Female; Follow-Up Studies; Genes, Recessive; Humans; Lysosomal Storage Diseases; Male; Middle Aged; Neuropsychological Tests

1993
[Molecular analysis of the aspartylglucosaminidase gene in Japanese patients with aspartylglucosaminuria].
    Nihon rinsho. Japanese journal of clinical medicine, 1993, Volume: 51, Issue:9

    Topics: Acetylglucosamine; Asian People; Aspartylglucosaminuria; Aspartylglucosylaminase; Base Sequence; DNA; Female; Gene Amplification; Homozygote; Humans; Japan; Male; Molecular Sequence Data; Mutation

1993
A fluorometric assay for glycosylasparaginase activity and detection of aspartylglycosaminuria.
    Analytical biochemistry, 1993, Feb-01, Volume: 208, Issue:2

    Topics: Acetylglucosamine; Aspartylglucosaminuria; Aspartylglucosylaminase; Evaluation Studies as Topic; Fibroblasts; Fluorometry; Humans; Leukocytes; Metabolism, Inborn Errors; Sensitivity and Specificity

1993
Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.
    The Biochemical journal, 1993, Mar-15, Volume: 290 ( Pt 3)

    Topics: Acetylglucosamine; Alleles; Amino Acid Sequence; Aspartylglucosaminuria; Aspartylglucosylaminase; Base Sequence; Cell Line; DNA; Female; Fluorescent Antibody Technique; Gene Deletion; Heterozygote; Humans; Male; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Transfection; United Kingdom; United States

1993
A simple and rapid PCR based method for AGU(Fin) determination.
    Human molecular genetics, 1993, Volume: 2, Issue:4

    Topics: Acetylglucosamine; Base Sequence; DNA; Female; Finland; Humans; Lysosomal Storage Diseases; Male; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction

1993
Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions.
    Acta paediatrica (Oslo, Norway : 1992), 1993, Volume: 82, Issue:5

    Topics: Acetylglucosamine; Adolescent; Adult; Aspartylglucosaminuria; Case-Control Studies; Child; Child Development; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Intellectual Disability; Intelligence Tests; Lysosomal Storage Diseases; Male; Middle Aged

1993
Synthesis of N-acetylglucosaminyl asparagine-substituted puromycin analogues.
    Bioorganic & medicinal chemistry, 1995, Volume: 3, Issue:12

    Topics: Acetylglucosamine; Anti-Bacterial Agents; Escherichia coli; Glycosylation; Magnetic Resonance Spectroscopy; Molecular Structure; Protein Synthesis Inhibitors; Puromycin; Ribosomes; RNA, Transfer, Amino Acyl; Structure-Activity Relationship

1995
DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices.
    Clinical chemistry, 1996, Volume: 42, Issue:9

    Topics: Acetylglucosamine; Base Sequence; Carbohydrate Metabolism, Inborn Errors; DNA; DNA Mutational Analysis; DNA Primers; Female; Genetic Testing; Heterozygote; Humans; Male; Maternal-Child Health Centers; Molecular Sequence Data; Pilot Projects; Pregnancy; Sensitivity and Specificity

1996
Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin.
    Journal of inherited metabolic disease, 1996, Volume: 19, Issue:1

    Topics: Acetylglucosamine; Adolescent; Amino Acid Sequence; Aspartylglucosylaminase; Base Sequence; Blotting, Western; Exons; Humans; Lysosomal Storage Diseases; Male; Mauritania; Molecular Sequence Data; Polymerase Chain Reaction; Protein Processing, Post-Translational

1996
A mouse model for the human lysosomal disease aspartylglycosaminuria.
    Nature medicine, 1996, Volume: 2, Issue:12

    Topics: Acetylglucosamine; Age Factors; Animals; Aspartylglucosaminuria; Aspartylglucosylaminase; Central Nervous System; Disease Models, Animal; Female; Humans; Lysosomal Storage Diseases; Lysosomes; Male; Mice; Mice, Knockout; Psychomotor Performance; RNA, Messenger; Stem Cells; Urinary Bladder

1996
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.
    Clinical genetics, 1997, Volume: 51, Issue:3

    Topics: Acetylglucosamine; Aspartylglucosaminuria; Aspartylglucosylaminase; Bone Marrow Transplantation; Canada; Female; Humans; Infant, Newborn; Lysosomal Storage Diseases; Pedigree; Point Mutation; Sequence Analysis, DNA

1997
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients.
    Human molecular genetics, 1998, Volume: 7, Issue:2

    Topics: Acetylglucosamine; Animals; Aspartylglucosaminuria; Aspartylglucosylaminase; Brain; Disease Models, Animal; Disease Progression; Gene Targeting; Genes, Recessive; Humans; Intellectual Disability; Liver; Lysosomal Storage Diseases; Magnetic Resonance Imaging; Maze Learning; Mice; Mice, Knockout; Microscopy, Electron; Phenotype

1998
Aspartylglucosaminuria among Palestinian Arabs.
    Journal of inherited metabolic disease, 1997, Volume: 20, Issue:6

    Topics: Acetylglucosamine; Adolescent; Aspartylglucosaminuria; Aspartylglucosylaminase; Child; Fibroblasts; Humans; Israel; Leukocytes; Saudi Arabia

1997
Phenotypic characterization of mice with targeted disruption of glycosylasparaginase gene: a mouse model for aspartylglycosaminuria.
    Journal of inherited metabolic disease, 1998, Volume: 21, Issue:3

    Topics: Acetylglucosamine; Animals; Aspartylglucosylaminase; Disease Models, Animal; Gene Targeting; Lysosomal Storage Diseases; Mice; Phenotype

1998
Synthesis of an N-glucoasparagine analog as a building block for a V3-loop glycopeptide from gp120 of HIV-I.
    Carbohydrate research, 1998, Volume: 313, Issue:2

    Topics: Acetylglucosamine; Amino Acid Sequence; Asparagine; Glucose; Glycosylation; HIV Envelope Protein gp120; HIV-1; Models, Chemical; Molecular Mimicry; Molecular Sequence Data; Peptide Fragments

1998
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria.
    Journal of medical genetics, 1999, Volume: 36, Issue:5

    Topics: Acetylglucosamine; Adolescent; Adult; Angiofibroma; Aspartylglucosaminuria; Aspartylglucosylaminase; Child; Child, Preschool; Face; Facial Neoplasms; Fibroma; Finland; Gingiva; Humans; Immunohistochemistry; Lysosomal Storage Diseases; Middle Aged; Mouth Mucosa; Skin; Skin Neoplasms

1999
Excessive infantile growth and early pubertal growth spurt: typical features in patients with aspartylglycosaminuria.
    The Journal of pediatrics, 1999, Volume: 134, Issue:6

    Topics: Acetylglucosamine; Adolescent; Adult; Child; Child, Preschool; Female; Finland; Growth; Humans; Infant; Infant, Newborn; Lysosomal Storage Diseases; Male; Menarche; Puberty

1999
Correction of peripheral lysosomal accumulation in mice with aspartylglucosaminuria by bone marrow transplantation.
    Experimental hematology, 1999, Volume: 27, Issue:9

    Topics: Acetylglucosamine; Amino Acid Metabolism, Inborn Errors; Animals; Aspartylglucosaminuria; Aspartylglucosylaminase; Bone Marrow Transplantation; Brain; Humans; Intellectual Disability; Kidney; Liver; Lysosomal Storage Diseases; Lysosomes; Mice; Mice, Inbred C57BL; Mice, Knockout; Nerve Tissue Proteins; Organ Specificity; Polymerase Chain Reaction; Radiation Chimera; Specific Pathogen-Free Organisms; Spleen; Vacuoles

1999
PCR-oligonucleotide ligation assay from dried blood spots.
    Clinical chemistry, 1999, Volume: 45, Issue:11

    Topics: Acetylglucosamine; Aspartylglucosylaminase; Blood Specimen Collection; Humans; Mutation; Polymerase Chain Reaction

1999
[Attitudes toward genetic testing in Finland].
    Duodecim; laaketieteellinen aikakauskirja, 1996, Volume: 112, Issue:2

    Topics: Acetylglucosamine; Attitude; Case-Control Studies; Female; Finland; Genetic Diseases, Inborn; Genetic Testing; Humans; Male; Population Surveillance; Predictive Value of Tests; Pregnancy; Prenatal Diagnosis; Sampling Studies; Surveys and Questionnaires

1996
Enzyme replacement therapy in a mouse model of aspartylglycosaminuria.
    FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2000, Volume: 14, Issue:2

    Topics: Acetylglucosamine; Animals; Aspartylglucosylaminase; Half-Life; Kidney; Liver; Lysosomal Storage Diseases; Mice; Mice, Mutant Strains; Spleen; Tissue Distribution

2000
Origin of Finnish mutations causing aspartylglucosaminuria.
    Hereditas, 1999, Volume: 131, Issue:3

    Topics: Acetylglucosamine; Alleles; Aspartylglucosaminuria; Aspartylglucosylaminase; Female; Finland; Haplotypes; Humans; Lysosomal Storage Diseases; Male; Mutation; Pedigree

1999
Co-existence of lysosomal storage diseases in a consanguineous family.
    Child: care, health and development, 2001, Volume: 27, Issue:2

    Topics: Acetylglucosamine; Asia; Child, Preschool; Consanguinity; England; Fabry Disease; Female; Heterozygote; Humans; Infant, Newborn; Lysosomal Storage Diseases; Male; Pedigree

2001
Synthesis of N4-(2-acetamido-2-deoxy-beta-D-glucopyranosyl)-L-asparagine analogues. n-Butyramide, 3-chloropropionamide, 3-aminopropionamide, and isovaleramide analogues.
    Carbohydrate research, 2001, Apr-23, Volume: 331, Issue:4

    Topics: Acetylglucosamine; Amides; Aspartylglucosylaminase; beta-Alanine; Butyrates; Hemiterpenes; Pentanoic Acids; Propionates

2001
Human leukocyte glycosylasparaginase: cell-to-cell transfer and properties in correction of aspartylglycosaminuria.
    FEBS letters, 2001, Jun-15, Volume: 499, Issue:1-2

    Topics: Acetylglucosamine; Aspartylglucosaminuria; Aspartylglucosylaminase; Cell Line, Transformed; Coculture Techniques; Culture Media, Conditioned; Endocytosis; Fibroblasts; Fluorescent Antibody Technique; Herpesvirus 4, Human; Humans; Leukocytes; Lymphocytes; Lysosomal Storage Diseases; Lysosomes; Mannosephosphates; Protein Transport; Receptor, IGF Type 2; Y Chromosome

2001
Glycosylasparaginase activity requires the alpha-carboxyl group, but not the alpha-amino group, on N(4)-(2-Acetamido-2-deoxy-beta-D-glucopyranosyl)-L-asparagine.
    Archives of biochemistry and biophysics, 2001, Jul-15, Volume: 391, Issue:2

    Topics: Acetylglucosamine; Asparagine; Aspartylglucosylaminase; Glucose; Humans; Hydrolysis; Peptide Hydrolases; Statistics as Topic; Substrate Specificity

2001
Glycosylasparaginase inhibition studies: competitive inhibitors, transition state mimics, noncompetitive inhibitors.
    Journal of enzyme inhibition, 2001, Volume: 16, Issue:3

    Topics: Acetylglucosamine; Aspartic Acid; Aspartylglucosylaminase; Cysteine; Enzyme Inhibitors; Humans; Molecular Structure; Propionates; Serine Endopeptidases

2001
Startle epilepsy complicating aspartylglucosaminuria.
    Brain & development, 2004, Volume: 26, Issue:2

    Topics: Acetylglucosamine; Acoustic Stimulation; Adult; Anticonvulsants; Brain; Diagnosis, Differential; Electroencephalography; Electromyography; Epilepsy; Gait Disorders, Neurologic; Humans; Lysosomal Storage Diseases, Nervous System; Magnetic Resonance Imaging; Male; Muscle Contraction; Reflex, Startle; Treatment Outcome

2004
Five-year follow-up of two siblings with aspartylglucosaminuria undergoing allogeneic stem-cell transplantation from unrelated donors.
    Transplantation, 2004, Aug-15, Volume: 78, Issue:3

    Topics: Acetylglucosamine; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Intellectual Disability; Male; Siblings; Stem Cell Transplantation; Time Factors; Tissue Donors; Transplantation, Homologous

2004
Reduction in head size in patients with aspartylglucosaminuria.
    Acta neurologica Scandinavica, 2005, Volume: 112, Issue:5

    Topics: Acetylglucosamine; Adolescent; Adult; Aged; Aspartylglucosaminuria; Aspartylglucosylaminase; Cephalometry; Child; Child, Preschool; Dementia; Disease Progression; Female; Follow-Up Studies; Humans; Lysosomal Storage Diseases; Male; Microcephaly; Reference Values

2005
Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study.
    Journal of inherited metabolic disease, 2006, Volume: 29, Issue:5

    Topics: Acetylglucosamine; Adolescent; Adult; Child; Child, Preschool; Female; Humans; Male; Metabolism, Inborn Errors; Middle Aged; Prevalence; Sleep Wake Disorders; Surveys and Questionnaires

2006
Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria.
    Acta radiologica (Stockholm, Sweden : 1987), 2008, Volume: 49, Issue:6

    Topics: Acetylglucosamine; Adolescent; Adult; Child; Child, Preschool; Female; Humans; Imaging, Three-Dimensional; Lysosomal Storage Diseases; Magnetic Resonance Imaging; Male; Pulvinar; Retrospective Studies; Thalamus

2008
Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice.
    Journal of inherited metabolic disease, 2010, Volume: 33, Issue:5

    Topics: Acetylglucosamine; Age Factors; Animals; Animals, Newborn; Aspartylglucosaminuria; Aspartylglucosylaminase; Biomarkers; Brain; Disease Models, Animal; Dose-Response Relationship, Drug; Drug Administration Schedule; Enzyme Replacement Therapy; Humans; Injections, Intraperitoneal; Injections, Intravenous; Mice; Mice, Knockout; NIH 3T3 Cells; Recombinant Proteins; Time Factors; Transfection

2010
ISOLATION AND IDENTIFICATION OF 2-ACETAMIDO-1-β-(L-β-ASPARTAMIDO)-1,2-DIDEOXY-D-GLUCOSE FROM PARTIAL HYDROLYSATE OF OVALBUMIN GLYCOPEPTIDE PREPARATION.
    Biochemical and biophysical research communications, 1964, Mar-09, Volume: 15, Issue:2

    Topics: Acetylglucosamine; Glycopeptides; Molecular Structure; Ovalbumin; Protein Hydrolysates

1964
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
    Molecular genetics and metabolism, 2019, Volume: 127, Issue:4

    Topics: Acetylglucosamine; Adolescent; Adult; Biomarkers; Case-Control Studies; Child; Child, Preschool; Congenital Disorders of Glycosylation; Dried Blood Spot Testing; Female; Humans; Infant; Male; Mass Spectrometry; Mutation; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase

2019
Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.
    Molecular brain, 2021, 06-13, Volume: 14, Issue:1

    Topics: Acetylglucosamine; Animals; Congenital Disorders of Glycosylation; Disease Models, Animal; Genetic Therapy; Genetic Vectors; Gliosis; Humans; Inflammation; Injections, Intraventricular; Motor Activity; Neurons; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase; Rats; Rats, Transgenic; Transgenes

2021