Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation

ASSEMBLY OF ASPARAGINE-LINKED OLIGOSACCHARIDES

1985 • 4,790 citations

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1991 • 491 citations

Proposal for a common oligosaccharide intermediate in the synthesis of membrane glycoproteins

1977 • 489 citations

Enzymatic conversion of proteins to glycoproteins.

1977 • 295 citations

Crystal structure of Escherichia coli L-asparaginase, an enzyme used in cancer therapy.

1993 • 294 citations

The synthesis of complex-type oligosaccharides. III. Identification of an alpha-D-mannosidase activity involved in a late stage of processing of complex-type oligosaccharides

1978 • 282 citations

ASPARTYLGLYCOSAMINURIA

1968 • 266 citations

Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.

1991 • 139 citations

Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: Application to aspartylglucosaminuria in Finland

1992 • 138 citations

Lysosomal degradation of Asn‐linked glycoproteins

1989 • 128 citations

Structural comparison of protein sequences around potential N-glycosylation sites

1984 • 84 citations

Studies on Enzymes Acting on Glycopeptides*

1968 • 83 citations

Carbohydrate–Peptide Linkages in Glycoproteins and Methods for their Elucidation

1962 • 81 citations

The purification and properties of a β-aspartyl N-acetylglucosylamine amidohydrolase from hen oviduct

1969 • 80 citations

β-Aspartylglucosylamine Amido Hydrolase of Rat Liver and Kidney

1967 • 77 citations

Glycosaparaginase from human leukocytes. Inactivation and covalent modification with diazo-oxonorvaline.

1991 • 72 citations

Lysosomal aspartylglucosaminidase is processed to the active subunit complex in the endoplasmic reticulum.

1993 • 68 citations

5-Diazo-4-Oxo-L-Norvaline: Reactive Asparagine Analog with Biological Specificity

1968 • 67 citations

A di-N-acetylchitobiase activity is involved in the lysosomal catabolism of asparagine-linked glycoproteins in rat liver.

1986 • 63 citations

Spectrum of mutations in aspartylglucosaminuria.

1991 • 58 citations

Glycolipid and Glycoprotein Degradation

1987 • 57 citations

The glycoasparagines in urine of a patient with aspartylglycosaminuria

1974 • 52 citations

Isolation and structure of the core oligosaccharide sequences of IgM

1975 • 51 citations

The isolation and characterisation of a cDNA clone encoding L-asparaginase from developing seeds of lupin (Lupinus arboreus)

1992 • 49 citations

Disorders of glycoprotein degradation

1990 • 48 citations

Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.

1991 • 48 citations

Purification and characterization of rat liver glycosylasparaginase

1989 • 47 citations

Asparaginase II of Saccharomyces cerevisiae. Characterization of the ASP3 gene.

1988 • 45 citations

Amino acid sequence of the diazooxonorleucine binding site of Acinetobacter and Pseudomonas 7 A glutaminase-asparaginase enzymes

1978 • 45 citations

Cloning and sequence analysis of a cDNA for human glycosylasparaginase

1990 • 44 citations

Synthesis and assembly of a catalytically active lysosomal enzyme, beta-hexosaminidase B, in a cell-free system.

1988 • 42 citations

Structural Determination of Three Glycoasparagines Isolated from the Urine of a Patient with Aspartylglycosaminuria

1976 • 40 citations

In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation

1991 • 39 citations

Substrate specificity and reaction mechanism of human glycoasparaginase. The N-glycosidic linkage of various glycoasparagines is cleaved through a reaction mechanism similar to L-asparaginase.

1992 • 37 citations

A Fluorometric Assay for Glycosylasparaginase Activity and Detection of Aspartylglycosaminuria

1993 • 37 citations

High prevalence of aspartylglycosaminuria among school-age children in eastern Finland

1991 • 36 citations

Glycoasparagine metabolites in patients with aspartylglycosaminuria: comparison between english and finnish patients with special reference to storage materials

1973 • 35 citations

Distribution, purification and properties of 1-aspartamido-β-N-acetylglucosamine amidohydrolase

1969 • 33 citations

Aspartylglucosaminuria: Psychomotor retardation masquerading as a mucopolysaccharidosis

1975 • 32 citations

Comparison of liver glycosylasparaginases from six vertebrates

1992 • 31 citations

l-asparaginase II of Escherichia coli K-12: cloning, mapping and sequencing of the ansB gene

1990 • 30 citations

PREVALENCE OF PHENYLKETONURIA AND SOME OTHER METABOLIC DISORDERS AMONG MENTALLY RETARDED PATIENTS IN FINLAND

1967 • 28 citations

Presence of two endo-β-N-acetylglucosaminidases in human kidney

1989 • 28 citations

Purification and some properties of 1-aspartamido-β-N-acetylglucosamine amidohydrolase from human liver

1977 • 26 citations

Distribution of glycopeptide-degrading enzyme in tissue and cells

1968 • 24 citations

Post‐translational processing and Thr‐206 are required for glycosylasparaginase activity

1993 • 23 citations

Human aspartylglucosaminidase. A biochemical and immunocytochemical characterization of the enzyme in normal and aspartylglucosaminuria fibroblasts

1992 • 23 citations

Purification and properties of human hepatic aspartylglucosaminidase.

1983 • 22 citations

Isolation of a human hepatic 60 kDa aspartylglucosaminidase consisting of three non-identical polypeptides

1989 • 21 citations

Structures of amidohydrolases. Amino acid sequence of a glutaminase-asparaginase from Acinetobacter glutaminasificans and preliminary crystallographic data for an asparaginase from Erwinia chrysanthemi.

1988 • 21 citations

Specificity Studies of 4-L-Aspartylglycosylamine Amido Hydrolase*

1973 • 20 citations

Genomic structure of human lysosomal glycosylasparaginase

1991 • 18 citations

Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient

1993 • 16 citations

Aspartylglucosaminuria in a Puerto Rican family: Additional features of a panethnic disorder

1988 • 15 citations

Laboratory detection of aspartylglycosaminuria

1988 • 15 citations

Chromosomal localization of the human glycoasparaginase gene to 4q32?q33

1992 • 15 citations

Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient

1991 • 15 citations

Deletion of the 3'-untranslated region of aspartylglucosaminidase mRNA results in a lysosomal accumulation disease.

1992 • 14 citations

Characterization of Two Glycoasparagines Isolated from the Urine of Patients with Aspartylglycosylaminuria (AGU)1

1975 • 14 citations

Aspartylglycosaminuria in a non-Finnish patient caused by a donor splice mutation in the glycoasparaginase gene.

1992 • 12 citations

Splicing defect of the glycoasparaginase gene in two Japanese siblings with apartylglucosamimiria

1992 • 11 citations

Elevated levels of serum dolichol in aspartylglucosaminuria

1990 • 11 citations

Amniotic fluid glycoasparagines in fetal aspartylglycosaminuria

1987 • 8 citations

Purification and structure of human liver aspartylglucosaminidase

1992 • 8 citations

Homozygous NADH‐methemoglobin reductase and aspartylglucosaminidase deficiencies in a moderately retarded sicilian child

1984 • 7 citations

The turnover of lysosomal glycosylasparaginase in rat liver

1988 • 6 citations

Gingival biopsy in diagnosis of inborn storage diseases: a case of aspartylglycosaminuria

1991 • 5 citations

Detection of aspartylglycosaminuria using urine specimens recovered from absorbent filter paper

1990 • 4 citations

Glycoasparaginase in human urine

1991 • 4 citations

Aspartylglycosaminuria presenting with hepatosplenomegaly in early infancy

1992 • 3 citations