review article | Q7318358 |
scholarly article | Q13442814 |
P356 | DOI | 10.1016/S0925-4439(99)00077-0 |
P8608 | Fatcat ID | release_wexilrrnzbfb5frixexwkj7vma |
P698 | PubMed publication ID | 10571005 |
P2093 | author name string | A Klein | |
J C Michalski | |||
P2860 | cites work | Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis | Q24310293 |
Cloning, expression, purification, and characterization of the human broad specificity lysosomal acid alpha-mannosidase | Q24319170 | ||
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype | Q24517908 | ||
Updating the sequence-based classification of glycosyl hydrolases | Q24534321 | ||
Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis | Q24539207 | ||
Molecular cloning of a cDNA for human alpha-L-fucosidase | Q24568183 | ||
Beta-mannosidosis: prenatal biochemical and morphological characteristics | Q70499009 | ||
Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency | Q70790843 | ||
Structural studies of urinary oligosaccharides from patients with mannosidosis | Q70817887 | ||
Mannosidosis in Aberdeen Angus cattle in Britain | Q70989304 | ||
Oligosaccharides accumulated in the kidney of a goat with beta-mannosidosis: mass spectrometry of intact permethylated derivatives | Q70994676 | ||
Synthesis of lysosomal alpha-mannosidase in normal and mannosidosis fibroblasts | Q71061010 | ||
beta-D-Mannosidase from human placenta: properties and partial purification | Q71185097 | ||
Characterization of the specificities of human blood group H gene-specified alpha 1,2-L-fucosyltransferase toward sulfated/sialylated/fucosylated acceptors: evidence for an inverse relationship between alpha 1,2-L-fucosylation of Gal and alpha 1,6-L | Q71211396 | ||
Mannosidosis in aborted and stillborn Galloway calves | Q71375655 | ||
Mannosidosis: patterns of storage and urinary excretion of oligosaccharides in the bovine model | Q71390608 | ||
A 500 MHz 1H NMR study of urinary oligosaccharides from patients with mannosidosis | Q71475156 | ||
Structural analysis of the major caprine beta-mannosidosis urinary oligosaccharides | Q71820156 | ||
Influence of L-fucose attached alpha 1-->6 to the asparagine-linked N-acetylglucosamine on the hydrolysis of the N-glycosidic linkage by human glycosylasparaginase | Q73304923 | ||
'Glyco-deglyco' processes during the synthesis of N-glycoproteins | Q74548874 | ||
A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene | Q77377064 | ||
Cytosol-to-lysosome transport of free polymannose-type oligosaccharides. Kinetic and specificity studies using rat liver lysosomes | Q77388265 | ||
Human beta-mannosidase deficiency | Q93535914 | ||
Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy | Q24617946 | ||
The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria | Q24628565 | ||
Spectrum of mutations in fucosidosis | Q28139871 | ||
alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis | Q28247120 | ||
Role of alpha-D-mannosidases in the biosynthesis and catabolism of glycoproteins | Q28268273 | ||
Linkage of plasma alpha-L-fucosidase (FUCA2) and the plasminogen (PLG) system | Q28270564 | ||
Fucosidosis revisited: a review of 77 patients | Q28271987 | ||
Human alpha-L-fucosidase: complete coding sequence from cDNA clones | Q28280051 | ||
Regional assignment of five genes on human chromosome 19 | Q28288364 | ||
Structural organization and complete sequence of the human α-N-acetylgalactosaminidase gene: Homology with the α-galactosidase A gene provides evidence for evolution from a common ancestral gene | Q28295936 | ||
Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings | Q28299485 | ||
Chromosome 1 localization of the human alpha-L-fucosidase structural gene with a homologous site on chromosome 2 | Q28304631 | ||
The core-specific lysosomal alpha(1-6)-mannosidase activity depends on aspartamidohydrolase activity | Q28581649 | ||
Transfer of free polymannose-type oligosaccharides from the cytosol to lysosomes in cultured human hepatocellular carcinoma HepG2 cells | Q28610251 | ||
A human lysosomal alpha(1----6)-mannosidase active on the branched trimannosyl core of complex glycans | Q33192199 | ||
Substrate specificity of human liver neutral alpha-mannosidase | Q33203857 | ||
Fucosidosis: genetic and biochemical analysis of eight cases | Q33678382 | ||
Bone marrow transplantation in canine mucopolysaccharidosis I. Effects within the central nervous system | Q34165972 | ||
Gene order and localization of enzyme loci on the short arm of chromosome 1. | Q34274136 | ||
Human beta-mannosidase deficiency associated with peripheral neuropathy | Q34347960 | ||
Spectrum of mutations in alpha-mannosidosis | Q34388518 | ||
Novel alpha-D-mannosidase of rat sperm plasma membranes: characterization and potential role in sperm-egg interactions | Q36221409 | ||
The accumulation of oligosaccharides in tissues and body fluids of cats with alpha-mannosidosis | Q36439113 | ||
Structural analysis of the major urinary oligosaccharides in feline alpha-mannosidosis | Q36475416 | ||
Mammalian alpha-mannosidases--multiple forms but a common purpose? | Q36718610 | ||
Human lysosomal alpha-mannosidase: isolation and nucleotide sequence of the full-length cDNA. | Q36748352 | ||
Mammalian alpha-L-fucosidases. | Q36907448 | ||
Degradation of proteins within the endoplasmic reticulum | Q36921997 | ||
Lectins as chaperones in glycoprotein folding | Q38331342 | ||
Oligosaccharide binding characteristics of the molecular chaperones calnexin and calreticulin | Q38338933 | ||
Genomic structure of the human lysosomal alpha-mannosidase gene (MANB). | Q38345494 | ||
Interleukin 2 is a lectin that associates its receptor with the T-cell receptor complex | Q38354071 | ||
Urinary oligosaccharides of fucosidosis. Evidence of the occurrence of X-antigenic determinant in serum-type sugar chains of glycoproteins | Q39515051 | ||
Localization of a gene for human α-galactosidase B (=N-Acetyl-α-D-Galactosaminidase) on chromosome 22 | Q40197930 | ||
Glycosidases of the asparagine-linked oligosaccharide processing pathway | Q40685364 | ||
Molecular genetics of H, Se, Lewis and other fucosyltransferase genes | Q40935109 | ||
Chemistry of urinary mannosides excreted in mannosidosis | Q41059857 | ||
Mutations in fucosidosis gene: a review | Q41063086 | ||
A Gln-281 to Arg substitution in alpha-L-fucosidase is responsible for a common polymorphism detected by isoelectric focusing | Q41469758 | ||
Release of oligomannoside-type glycans as a marker of the degradation of newly synthesized glycoproteins | Q41487175 | ||
Mannosidosis in Angus cattle. The enzymic defect | Q41510567 | ||
Correction of alpha-L-fucosidase deficiency in fucosidosis fibroblasts by retroviral vector-mediated gene transfer | Q41610106 | ||
Accumulation of mannosyl-beta(1----4)-N-acetylglucosamine in fibroblasts and leukocytes of patients with a deficiency of beta-mannosidase | Q41777401 | ||
Deficiency of α-mannosidase in Angus cattle. An inherited lysosomal storage disease | Q41825246 | ||
Beta-mannosidosis in two brothers with hearing loss | Q41849879 | ||
Purification and comparison of the structures of human liver acidic alpha-D-mannosidases A and B. | Q41870767 | ||
Analysis of purified human liver alpha-L-fucosidase by western-blotting with lectins and polyclonal and monoclonal antibodies | Q41902745 | ||
Absence of endo-beta-N-acetylglucosaminidase activity in the kidneys of sheep, cattle and pig. | Q41911769 | ||
Bovine kidney beta-mannosidase: purification and characterization | Q42053569 | ||
The storage products in genetic and swainsonine-induced human mannosidosis | Q42114152 | ||
Cytosolic deglycosylation process of newly synthesized glycoproteins generates oligomannosides possessing one GlcNAc residue at the reducing end. | Q42159108 | ||
Structure and sequence of the human α-l-fucosidase gene and pseudogene | Q42618164 | ||
Purification of bovine lysosomal alpha-mannosidase, characterization of its gene and determination of two mutations that cause alpha-mannosidosis. | Q42659596 | ||
Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats | Q42727475 | ||
Properties and prenatal ontogeny of beta-D-mannosidase in selected goat tissues | Q42855903 | ||
Biochemical studies on a case of feline mannosidosis | Q42881130 | ||
Characterization of human liver alpha-D-mannosidase purified by affinity chromatography | Q42916777 | ||
Characterization of two mannose-containing oligosaccharides isolated from the urine of patients with mannosidosis | Q43526356 | ||
Oligosaccharide storage in brains from patients with fucosidosis, GM1-gangliosidosis and GM2-gangliosidosis (Sandhoff's disease) | Q43855529 | ||
Characterization and 400-MHz 1H-NMR analysis of urinary fucosyl glycoasparagines in fucosidosis | Q44879562 | ||
Canine fucosidosis: a model for retroviral gene transfer into haematopoietic stem cells | Q45883167 | ||
alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings | Q48050504 | ||
Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis | Q48059409 | ||
Biochemical and morphological expression of early prenatal caprine beta-mannosidosis. | Q48694010 | ||
Bovine beta-mannosidase deficiency. | Q48835772 | ||
[Beta mannosidosis: a new case] | Q50510524 | ||
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother. | Q50554523 | ||
A study of the heterogenous structure of guinea pig lysosomal beta-mannosidase using a polyclonal antibody. | Q50804343 | ||
Mannosidosis: A clinical and histopathologic study | Q51161147 | ||
Mannosidosis: isolation of oligosaccharide storage material from brain. | Q51161150 | ||
β‐Mannosidase deficiency in a female infant with epileptic encephalopathy | Q52238744 | ||
Dysmyelinogenesis in caprine beta-mannosidosis: ultrastructural and morphometric studies in fetal optic nerve. | Q52258629 | ||
In vitro hydrolysis of oligomannosyl oligosaccharides by the lysosomal alpha-D-mannosidases. | Q52484784 | ||
Molecular Cloning and Characterization of Bovine β-Mannosidase | Q56602484 | ||
Determination of sequence and linkage of tissue oligosaccharides in caprine ?-mannosidosis by fast atom bombardment, collisionally activated dissociation tandem mass spectrometry | Q58011168 | ||
Oligosaccharides accumulated in the bovineβ-mannosidosis kidney | Q58011170 | ||
Reversal of fortune for nascent proteins | Q59072797 | ||
A GENERALISED STORAGE DISORDER RESEMBLING HURLER'S SYNDROME | Q59382363 | ||
Correction of human mucolipidosis II enzyme abnormalities in somatic cell hybrids | Q67013945 | ||
Structure of the three major fucosyl-glycoasparagines accumulating in the urine of a patient with fucosidosis | Q67427316 | ||
Substrate specificity of rat liver cytosolic alpha-d-mannosidase Novel degradative pathway for oligomannosidic type glycans | Q67905774 | ||
Beta-mannosidosis and ethanolaminuria in a female patient | Q68011320 | ||
Human β-mannosidosis: a 3-year-old boy with speech impairment and emotional instability | Q68193807 | ||
Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum | Q69368682 | ||
Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency | Q69631735 | ||
Lysosomal alpha-N-acetylgalactosaminidase deficiency: a new inherited metabolic disease | Q69906854 | ||
Heterogeneity of urinary oligosaccharides from mannosidosis: mass spectrometric analysis of permethylated Man9, Man8, and Man7 derivatives | Q70280187 | ||
Catabolism of glycoprotein glycans. Characterization of a lysosomal endo-N-acetyl-beta-D-glucosaminidase specific for glycans with a terminal chitobiose residue | Q70305498 | ||
P433 | issue | 2-3 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | fucosidosis | Q177878 |
beta-mannosidosis | Q291617 | ||
Schindler disease | Q310335 | ||
P304 | page(s) | 69-84 | |
P577 | publication date | 1999-10-01 | |
P1433 | published in | Biochimica et Biophysica Acta | Q864239 |
P1476 | title | Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency | |
P478 | volume | 1455 |
Q35161793 | A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases. |
Q30513706 | A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation. |
Q41285403 | A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease. |
Q48086631 | A retaining endo-beta-mannosidase from a dicot plant, cabbage. |
Q35894676 | A review of gene therapy in canine and feline models of lysosomal storage disorders |
Q21202909 | Alpha-mannosidosis |
Q35966074 | Analysis of urinary oligosaccharides in lysosomal storage disorders by capillary high-performance anion-exchange chromatography-mass spectrometry |
Q64039252 | Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis |
Q30499614 | Cerebellar alterations and gait defects as therapeutic outcome measures for enzyme replacement therapy in α-mannosidosis |
Q36410390 | Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice |
Q37758551 | Clinical aspects of neuropathic lysosomal storage disorders |
Q34572887 | Crypticity and functional distribution of the membrane associated alpha-L-fucosidase of human sperm |
Q34524800 | Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases. |
Q36332562 | Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses. |
Q40207508 | Diffusion Tensor Imaging for Assessing Brain Gray and White Matter Abnormalities in a Feline Model of α-Mannosidosis. |
Q44875065 | Effective gene therapy for an inherited CNS disease in a large animal model |
Q38985455 | Epithelial glycosylation in gut homeostasis and inflammation |
Q60238118 | Exploring a Multivalent Approach to α-L-Fucosidase Inhibition |
Q36189363 | Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review |
Q38211812 | Fucosyltransferase 2: a genetic risk factor for primary sclerosing cholangitis and Crohn's disease--a comprehensive review |
Q54594767 | Functional expression of L-fucokinase/guanosine 5'-diphosphate-L-fucose pyrophosphorylase from Bacteroides fragilis in Saccharomyces cerevisiae for the production of nucleotide sugars from exogenous monosaccharides. |
Q92793966 | Hereditary β-mannosidosis in a dog: Clinicopathological and molecular genetic characterization |
Q33187248 | Identification and analysis of catalytic TIM barrel domains in seven further glycoside hydrolase families |
Q46791866 | Identification and structural characterization of novel O- and N-glycoforms in the urine of a Schindler disease patient by Orbitrap mass spectrometry. |
Q42694224 | Identification of an archaeal alpha-L-fucosidase encoded by an interrupted gene. Production of a functional enzyme by mutations mimicking programmed -1 frameshifting |
Q43034267 | Identification of the catalytic nucleophile of the family 29 alpha-L-fucosidase from Thermotoga maritima through trapping of a covalent glycosyl-enzyme intermediate and mutagenesis |
Q33558217 | Impaired lysosomal trimming of N-linked oligosaccharides leads to hyperglycosylation of native lysosomal proteins in mice with alpha-mannosidosis |
Q45872456 | In vivo correction of genetic defects of monocyte/macrophages using attenuated Salmonella as oral vectors for targeted gene delivery |
Q35084348 | Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II. |
Q91248818 | Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS |
Q40404903 | Over-expression of human lysosomal alpha-mannosidase in mouse embryonic stem cells |
Q28472162 | Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis |
Q38624584 | Plasma alpha-L-fucosidase activity in chronic inflammation and autoimmune disorders in a pediatric cohort of hospitalized patients |
Q94465770 | Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases |
Q35196729 | Pulmonary mucus: Pediatric perspective |
Q48630065 | Roles of mouse sperm-associated alpha-L-fucosidases in fertilization. |
Q51420920 | Screening of Neu5Acα(2-6)gal isomer preferences of siglecs with a sialic acid microarray. |
Q50429958 | Successful unrelated bone marrow transplantation in two siblings with alpha-mannosidosis. |
Q46099659 | Synthesis of novel pyrrolidine 3,4-diol derivatives as inhibitors of alpha-L-fucosidases |
Q44538394 | T-cell-depleted peripheral blood stem cell transplantation for alpha-mannosidosis |
Q36905499 | The alpha-L-fucosidase from Sulfolobus solfataricus |
Q43600333 | The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option? |
Q43897677 | α-Fucosidases with different substrate specificities from two species of Fusarium |
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