Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency

scientific article

Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1016/S0925-4439(99)00077-0
P8608Fatcat IDrelease_wexilrrnzbfb5frixexwkj7vma
P698PubMed publication ID10571005

P2093author name stringA Klein
J C Michalski
P2860cites workHuman beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosisQ24310293
Cloning, expression, purification, and characterization of the human broad specificity lysosomal acid alpha-mannosidaseQ24319170
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotypeQ24517908
Updating the sequence-based classification of glycosyl hydrolasesQ24534321
Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosisQ24539207
Molecular cloning of a cDNA for human alpha-L-fucosidaseQ24568183
Beta-mannosidosis: prenatal biochemical and morphological characteristicsQ70499009
Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiencyQ70790843
Structural studies of urinary oligosaccharides from patients with mannosidosisQ70817887
Mannosidosis in Aberdeen Angus cattle in BritainQ70989304
Oligosaccharides accumulated in the kidney of a goat with beta-mannosidosis: mass spectrometry of intact permethylated derivativesQ70994676
Synthesis of lysosomal alpha-mannosidase in normal and mannosidosis fibroblastsQ71061010
beta-D-Mannosidase from human placenta: properties and partial purificationQ71185097
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-LQ71211396
Mannosidosis in aborted and stillborn Galloway calvesQ71375655
Mannosidosis: patterns of storage and urinary excretion of oligosaccharides in the bovine modelQ71390608
A 500 MHz 1H NMR study of urinary oligosaccharides from patients with mannosidosisQ71475156
Structural analysis of the major caprine beta-mannosidosis urinary oligosaccharidesQ71820156
Influence of L-fucose attached alpha 1-->6 to the asparagine-linked N-acetylglucosamine on the hydrolysis of the N-glycosidic linkage by human glycosylasparaginaseQ73304923
'Glyco-deglyco' processes during the synthesis of N-glycoproteinsQ74548874
A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase geneQ77377064
Cytosol-to-lysosome transport of free polymannose-type oligosaccharides. Kinetic and specificity studies using rat liver lysosomesQ77388265
Human beta-mannosidase deficiencyQ93535914
Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophyQ24617946
The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduriaQ24628565
Spectrum of mutations in fucosidosisQ28139871
alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosisQ28247120
Role of alpha-D-mannosidases in the biosynthesis and catabolism of glycoproteinsQ28268273
Linkage of plasma alpha-L-fucosidase (FUCA2) and the plasminogen (PLG) systemQ28270564
Fucosidosis revisited: a review of 77 patientsQ28271987
Human alpha-L-fucosidase: complete coding sequence from cDNA clonesQ28280051
Regional assignment of five genes on human chromosome 19Q28288364
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 geneQ28295936
Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblingsQ28299485
Chromosome 1 localization of the human alpha-L-fucosidase structural gene with a homologous site on chromosome 2Q28304631
The core-specific lysosomal alpha(1-6)-mannosidase activity depends on aspartamidohydrolase activityQ28581649
Transfer of free polymannose-type oligosaccharides from the cytosol to lysosomes in cultured human hepatocellular carcinoma HepG2 cellsQ28610251
A human lysosomal alpha(1----6)-mannosidase active on the branched trimannosyl core of complex glycansQ33192199
Substrate specificity of human liver neutral alpha-mannosidaseQ33203857
Fucosidosis: genetic and biochemical analysis of eight casesQ33678382
Bone marrow transplantation in canine mucopolysaccharidosis I. Effects within the central nervous systemQ34165972
Gene order and localization of enzyme loci on the short arm of chromosome 1.Q34274136
Human beta-mannosidase deficiency associated with peripheral neuropathyQ34347960
Spectrum of mutations in alpha-mannosidosisQ34388518
Novel alpha-D-mannosidase of rat sperm plasma membranes: characterization and potential role in sperm-egg interactionsQ36221409
The accumulation of oligosaccharides in tissues and body fluids of cats with alpha-mannosidosisQ36439113
Structural analysis of the major urinary oligosaccharides in feline alpha-mannosidosisQ36475416
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 reticulumQ36921997
Lectins as chaperones in glycoprotein foldingQ38331342
Oligosaccharide binding characteristics of the molecular chaperones calnexin and calreticulinQ38338933
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 complexQ38354071
Urinary oligosaccharides of fucosidosis. Evidence of the occurrence of X-antigenic determinant in serum-type sugar chains of glycoproteinsQ39515051
Localization of a gene for human α-galactosidase B (=N-Acetyl-α-D-Galactosaminidase) on chromosome 22Q40197930
Glycosidases of the asparagine-linked oligosaccharide processing pathwayQ40685364
Molecular genetics of H, Se, Lewis and other fucosyltransferase genesQ40935109
Chemistry of urinary mannosides excreted in mannosidosisQ41059857
Mutations in fucosidosis gene: a reviewQ41063086
A Gln-281 to Arg substitution in alpha-L-fucosidase is responsible for a common polymorphism detected by isoelectric focusingQ41469758
Release of oligomannoside-type glycans as a marker of the degradation of newly synthesized glycoproteinsQ41487175
Mannosidosis in Angus cattle. The enzymic defectQ41510567
Correction of alpha-L-fucosidase deficiency in fucosidosis fibroblasts by retroviral vector-mediated gene transferQ41610106
Accumulation of mannosyl-beta(1----4)-N-acetylglucosamine in fibroblasts and leukocytes of patients with a deficiency of beta-mannosidaseQ41777401
Deficiency of α-mannosidase in Angus cattle. An inherited lysosomal storage diseaseQ41825246
Beta-mannosidosis in two brothers with hearing lossQ41849879
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 antibodiesQ41902745
Absence of endo-beta-N-acetylglucosaminidase activity in the kidneys of sheep, cattle and pig.Q41911769
Bovine kidney beta-mannosidase: purification and characterizationQ42053569
The storage products in genetic and swainsonine-induced human mannosidosisQ42114152
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 pseudogeneQ42618164
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 catsQ42727475
Properties and prenatal ontogeny of beta-D-mannosidase in selected goat tissuesQ42855903
Biochemical studies on a case of feline mannosidosisQ42881130
Characterization of human liver alpha-D-mannosidase purified by affinity chromatographyQ42916777
Characterization of two mannose-containing oligosaccharides isolated from the urine of patients with mannosidosisQ43526356
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 fucosidosisQ44879562
Canine fucosidosis: a model for retroviral gene transfer into haematopoietic stem cellsQ45883167
alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblingsQ48050504
Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosisQ48059409
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 studyQ51161147
Mannosidosis: isolation of oligosaccharide storage material from brain.Q51161150
β‐Mannosidase deficiency in a female infant with epileptic encephalopathyQ52238744
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-MannosidaseQ56602484
Determination of sequence and linkage of tissue oligosaccharides in caprine ?-mannosidosis by fast atom bombardment, collisionally activated dissociation tandem mass spectrometryQ58011168
Oligosaccharides accumulated in the bovineβ-mannosidosis kidneyQ58011170
Reversal of fortune for nascent proteinsQ59072797
A GENERALISED STORAGE DISORDER RESEMBLING HURLER'S SYNDROMEQ59382363
Correction of human mucolipidosis II enzyme abnormalities in somatic cell hybridsQ67013945
Structure of the three major fucosyl-glycoasparagines accumulating in the urine of a patient with fucosidosisQ67427316
Substrate specificity of rat liver cytosolic alpha-d-mannosidase Novel degradative pathway for oligomannosidic type glycansQ67905774
Beta-mannosidosis and ethanolaminuria in a female patientQ68011320
Human β-mannosidosis: a 3-year-old boy with speech impairment and emotional instabilityQ68193807
Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusumQ69368682
Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiencyQ69631735
Lysosomal alpha-N-acetylgalactosaminidase deficiency: a new inherited metabolic diseaseQ69906854
Heterogeneity of urinary oligosaccharides from mannosidosis: mass spectrometric analysis of permethylated Man9, Man8, and Man7 derivativesQ70280187
Catabolism of glycoprotein glycans. Characterization of a lysosomal endo-N-acetyl-beta-D-glucosaminidase specific for glycans with a terminal chitobiose residueQ70305498
P433issue2-3
P407language of work or nameEnglishQ1860
P921main subjectfucosidosisQ177878
beta-mannosidosisQ291617
Schindler diseaseQ310335
P304page(s)69-84
P577publication date1999-10-01
P1433published inBiochimica et Biophysica ActaQ864239
P1476titleGlycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency
P478volume1455

Reverse relations

cites work (P2860)
Q35161793A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases.
Q30513706A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation.
Q41285403A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease.
Q48086631A retaining endo-beta-mannosidase from a dicot plant, cabbage.
Q35894676A review of gene therapy in canine and feline models of lysosomal storage disorders
Q21202909Alpha-mannosidosis
Q35966074Analysis of urinary oligosaccharides in lysosomal storage disorders by capillary high-performance anion-exchange chromatography-mass spectrometry
Q64039252Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis
Q30499614Cerebellar alterations and gait defects as therapeutic outcome measures for enzyme replacement therapy in α-mannosidosis
Q36410390Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice
Q37758551Clinical aspects of neuropathic lysosomal storage disorders
Q34572887Crypticity and functional distribution of the membrane associated alpha-L-fucosidase of human sperm
Q34524800Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.
Q36332562Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.
Q40207508Diffusion Tensor Imaging for Assessing Brain Gray and White Matter Abnormalities in a Feline Model of α-Mannosidosis.
Q44875065Effective gene therapy for an inherited CNS disease in a large animal model
Q38985455Epithelial glycosylation in gut homeostasis and inflammation
Q60238118Exploring a Multivalent Approach to α-L-Fucosidase Inhibition
Q36189363Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review
Q38211812Fucosyltransferase 2: a genetic risk factor for primary sclerosing cholangitis and Crohn's disease--a comprehensive review
Q54594767Functional 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.
Q92793966Hereditary β-mannosidosis in a dog: Clinicopathological and molecular genetic characterization
Q33187248Identification and analysis of catalytic TIM barrel domains in seven further glycoside hydrolase families
Q46791866Identification and structural characterization of novel O- and N-glycoforms in the urine of a Schindler disease patient by Orbitrap mass spectrometry.
Q42694224Identification of an archaeal alpha-L-fucosidase encoded by an interrupted gene. Production of a functional enzyme by mutations mimicking programmed -1 frameshifting
Q43034267Identification of the catalytic nucleophile of the family 29 alpha-L-fucosidase from Thermotoga maritima through trapping of a covalent glycosyl-enzyme intermediate and mutagenesis
Q33558217Impaired lysosomal trimming of N-linked oligosaccharides leads to hyperglycosylation of native lysosomal proteins in mice with alpha-mannosidosis
Q45872456In vivo correction of genetic defects of monocyte/macrophages using attenuated Salmonella as oral vectors for targeted gene delivery
Q35084348Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II.
Q91248818Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS
Q40404903Over-expression of human lysosomal alpha-mannosidase in mouse embryonic stem cells
Q28472162Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis
Q38624584Plasma alpha-L-fucosidase activity in chronic inflammation and autoimmune disorders in a pediatric cohort of hospitalized patients
Q94465770Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases
Q35196729Pulmonary mucus: Pediatric perspective
Q48630065Roles of mouse sperm-associated alpha-L-fucosidases in fertilization.
Q51420920Screening of Neu5Acα(2-6)gal isomer preferences of siglecs with a sialic acid microarray.
Q50429958Successful unrelated bone marrow transplantation in two siblings with alpha-mannosidosis.
Q46099659Synthesis of novel pyrrolidine 3,4-diol derivatives as inhibitors of alpha-L-fucosidases
Q44538394T-cell-depleted peripheral blood stem cell transplantation for alpha-mannosidosis
Q36905499The alpha-L-fucosidase from Sulfolobus solfataricus
Q43600333The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?
Q43897677α-Fucosidases with different substrate specificities from two species of Fusarium

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