Cloning, sequencing, and expression of cDNA for human beta-galactosidase.

PubWeight™: 1.55‹?› | Rank: Top 4%

🔗 View Article (PMID 3143362)

Published in Biochem Biophys Res Commun on November 30, 1988

Authors

A Oshima1, A Tsuji, Y Nagao, H Sakuraba, Y Suzuki

Author Affiliations

1: Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.

Articles citing this

Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. Am J Hum Genet (1991) 1.72

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Am J Hum Genet (1990) 1.57

Characterization of an exo-beta-D-glucosaminidase involved in a novel chitinolytic pathway from the hyperthermophilic archaeon Thermococcus kodakaraensis KOD1. J Bacteriol (2003) 1.26

Human beta-galactosidase gene mutations in morquio B disease. Am J Hum Genet (1991) 1.04

Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis. Mol Genet Metab (2008) 1.03

Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. J Biol Chem (2011) 1.02

GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients. Am J Hum Genet (1991) 1.02

Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis. Biochem J (2000) 1.02

Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activities. Perspect Medicin Chem (2009) 0.96

Glycosaminoglycan storage disorders: a review. Biochem Res Int (2011) 0.96

Human placental beta-galactosidase. Characterization of the dimer and complex forms of the enzyme. Biochem J (1992) 0.95

Kinetic mechanism and characterization of human beta-galactosidase precursor secreted by permanently transfected Chinese hamster ovary cells. Biochem J (1994) 0.90

Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. Hum Genet (2003) 0.85

Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis. J Inherit Metab Dis (2000) 0.85

Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis. Am J Hum Genet (1994) 0.82

Genetics of inherited human epilepsies. Dialogues Clin Neurosci (2001) 0.81

Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients. Am J Hum Genet (1993) 0.80

Emerging novel concept of chaperone therapies for protein misfolding diseases. Proc Jpn Acad Ser B Phys Biol Sci (2014) 0.80

A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. Mol Ther (2013) 0.79

Expression, purification, crystallization and preliminary X-ray crystallographic analysis of human β-galactosidase. Acta Crystallogr Sect F Struct Biol Cryst Commun (2011) 0.78

Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model. Mol Ther (2017) 0.75

Articles by these authors

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics (1989) 19.10

A precise and fast temperature mapping using water proton chemical shift. Magn Reson Med (1995) 5.73

Comparison of complete amino acid sequences and receptor-binding properties among 13 serotypes of hemagglutinins of influenza A viruses. Virology (1991) 4.85

Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transport. Nat Cell Biol (1999) 4.76

Genetic analysis of blood pressure in spontaneously hypertensive rats. Jpn Circ J (1970) 4.59

Chloramphenicol-, dihydrostreptomycin-, and kanamycin-inactivating enzymes from multiple drug-resistant Escherichia coli carrying episome 'R'. Nature (1965) 4.53

Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci U S A (1995) 3.85

Large voltage-induced magnetic anisotropy change in a few atomic layers of iron. Nat Nanotechnol (2009) 3.75

The DNA sequence of Bombyx mori fibroin gene including the 5' flanking, mRNA coding, entire intervening and fibroin protein coding regions. Cell (1979) 3.60

Proliferative activity of intratumoral CD8(+) T-lymphocytes as a prognostic factor in human renal cell carcinoma: clinicopathologic demonstration of antitumor immunity. Cancer Res (2001) 3.51

An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med (1995) 3.42

Interferon beta prevents recurrence of hepatocellular carcinoma after complete resection or ablation of the primary tumor-A prospective randomized study of hepatitis C virus-related liver cancer. Hepatology (2000) 3.42

Mini-laparoscopic appendectomy using a needle loop retractor offers optimal cosmetic results. Surg Endosc (2004) 3.38

Success and virulence in Toxoplasma as the result of sexual recombination between two distinct ancestries. Science (2001) 3.21

Structural analysis of the fibroin gene at the 5' end and its surrounding regions. Cell (1979) 3.16

Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat Med (1999) 3.11

Receptor specificity of influenza A viruses correlates with the agglutination of erythrocytes from different animal species. Virology (1997) 3.10

Evolutionary motif and its biological and structural significance. J Mol Evol (1997) 3.03

A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr (1981) 2.97

Association of CD4+ T cell-dependent, interferon-gamma-mediated necrosis of the small intestine with genetic susceptibility of mice to peroral infection with Toxoplasma gondii. J Exp Med (1996) 2.97

Complete nucleotide sequence and genetic organization of Aichi virus, a distinct member of the Picornaviridae associated with acute gastroenteritis in humans. J Virol (1998) 2.85

Emergence and takeover of YMDD motif mutant hepatitis B virus during long-term lamivudine therapy and re-takeover by wild type after cessation of therapy. Hepatology (1998) 2.67

A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science (1992) 2.63

A radiation hybrid map of the rat genome containing 5,255 markers. Nat Genet (1999) 2.54

Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase. Proc Natl Acad Sci U S A (1970) 2.48

Phage particle-mediated gene transfer to cultured mammalian cells. Mol Cell Biol (1982) 2.47

Human intelectin is a novel soluble lectin that recognizes galactofuranose in carbohydrate chains of bacterial cell wall. J Biol Chem (2001) 2.45

Neurologic improvement after peripheral blood stem cell transplantation in POEMS syndrome. Neurology (2008) 2.45

Faithful transcription initiation of fibroin gene in a homologous cell-free system reveals an enhancing effect of 5' flanking sequence far upstream. Cell (1981) 2.42

Differences in sialic acid-galactose linkages in the chicken egg amnion and allantois influence human influenza virus receptor specificity and variant selection. J Virol (1997) 2.38

Daily walking combined with diet therapy is a useful means for obese NIDDM patients not only to reduce body weight but also to improve insulin sensitivity. Diabetes Care (1995) 2.33

Organization of rRNA genes in Mycobacterium bovis BCG. J Bacteriol (1987) 2.33

The enzymatic acetylation of chloramphenicol by the multiple drug-resistant Escherichia coli carrying R factor. J Biol Chem (1967) 2.31

The genes for silk fibroin in Bombyx mori. J Mol Biol (1972) 2.29

Analysis of heart rate variability demonstrates effects of development on vagal modulation of heart rate in healthy children. J Pediatr (1997) 2.24

Disease progression and hepatocellular carcinogenesis in patients with chronic viral hepatitis: a prospective observation of 2215 patients. J Hepatol (1998) 2.21

Application of a reverse transcription-PCR for identification and differentiation of Aichi virus, a new member of the Picornavirus family associated with gastroenteritis in humans. J Clin Microbiol (2000) 2.19

Restraining infarct expansion preserves left ventricular geometry and function after acute anteroapical infarction. Circulation (1999) 2.19

Factors predictive of survival among 337 patients with mesothelioma treated between 1984 and 1994 by the Cancer and Leukemia Group B. Chest (1998) 2.18

Heptakis(2,6-O-dimethyl)beta-cyclodextrin: a novel growth stimulant for Bordetella pertussis phase I. J Clin Microbiol (1983) 2.17

Validation study of the in vitro micronucleus test in a Chinese hamster lung cell line (CHL/IU). Mutagenesis (1999) 2.16

Pulmonary fibrosis in asbestos insulation workers with lung cancer: a radiological and histopathological evaluation. Br J Ind Med (1987) 2.14

Effect of heptakis (2,6-O-dimethyl) beta-cyclodextrin on the production of pertussis toxin by Bordetella pertussis. Infect Immun (1983) 2.06

Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. J Biol Chem (1998) 2.05

Restriction of the lateral motion of band 3 in the erythrocyte membrane by the cytoskeletal network: dependence on spectrin association state. Biochemistry (1986) 2.05

Lysenin, a novel sphingomyelin-specific binding protein. J Biol Chem (1998) 2.02

Is white coat hypertension innocent? Structure and function of the heart in the elderly. Hypertension (1993) 1.99

Effect of interferon therapy on hepatocellular carcinogenesis in patients with chronic hepatitis type C: A long-term observation study of 1,643 patients using statistical bias correction with proportional hazard analysis. Hepatology (1999) 1.99

Incidence of primary cholangiocellular carcinoma of the liver in japanese patients with hepatitis C virus-related cirrhosis. Cancer (2000) 1.98

Mutations in mitochondrial control region DNA in gastric tumours of Japanese patients. Eur J Cancer (1999) 1.94

Promoter sequence of fibroin gene assigned by in vitro transcription system. Proc Natl Acad Sci U S A (1981) 1.87

Comet 81P/Wild 2 under a microscope. Science (2006) 1.83

Stevens-Johnson syndrome induced by methazolamide treatment. Arch Ophthalmol (1997) 1.83

The dwarf-1 (dt) Mutant of Zea mays blocks three steps in the gibberellin-biosynthetic pathway. Proc Natl Acad Sci U S A (1996) 1.80

Basis of chloramphenicol resistance in naturally isolated resistant staphylococci. J Bacteriol (1966) 1.80

Isolation and identification of the messenger RNA for silk fibroin from Bombyx mori. J Mol Biol (1972) 1.79

Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr Pharm Biotechnol (2011) 1.78

Amino acid residues contributing to the substrate specificity of the influenza A virus neuraminidase. J Virol (1999) 1.78

Effect of AT877 on cerebral vasospasm after aneurysmal subarachnoid hemorrhage. Results of a prospective placebo-controlled double-blind trial. J Neurosurg (1992) 1.77

Activation of calmodulin by various metal cations as a function of ionic radius. Mol Pharmacol (1984) 1.77

Primary hepatic lymphoma associated with primary biliary cirrhosis. Am J Gastroenterol (1999) 1.77

Mouse ULK2, a novel member of the UNC-51-like protein kinases: unique features of functional domains. Oncogene (1999) 1.76

Molecular identification and characterization of novel members of the human organic anion transporter (OATP) family. Biochem Biophys Res Commun (2000) 1.76

Complete nucleotide sequence of the chloroplast genome from the green alga Chlorella vulgaris: the existence of genes possibly involved in chloroplast division. Proc Natl Acad Sci U S A (1997) 1.75

Decreased resistance of B cell-deficient mice to infection with Toxoplasma gondii despite unimpaired expression of IFN-gamma, TNF-alpha, and inducible nitric oxide synthase. J Immunol (2000) 1.75

CART classification of human 5' UTR sequences. Genome Res (2000) 1.75

Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly. Proc Natl Acad Sci U S A (1999) 1.75

A randomised dose finding study of oral tacrolimus (FK506) therapy in refractory ulcerative colitis. Gut (2006) 1.75

Th1 polarization in murine IgA nephropathy directed by bone marrow-derived cells. Kidney Int (2007) 1.74

Retinoids exacerbate rat liver fibrosis by inducing the activation of latent TGF-beta in liver stellate cells. Hepatology (1997) 1.74

The sequential accumulation of genetic alterations characteristic of the colorectal adenoma-carcinoma sequence does not occur between gastric adenoma and adenocarcinoma. J Pathol (1995) 1.74

Yeast Gal11 protein mediates the transcriptional activation signal of two different transacting factors, Gal4 and general regulatory factor I/repressor/activator site binding protein 1/translation upstream factor. Proc Natl Acad Sci U S A (1990) 1.74

Establishment of pure NOTES procedure using a conventional flexible endoscope: review of six cases of gastric gastrointestinal stromal tumors. Endoscopy (2011) 1.73

Characterization of a mammalian mutant with a camptothecin-resistant DNA topoisomerase I. Proc Natl Acad Sci U S A (1987) 1.72

Analytical chemical studies on amino sugars. II. Determination of hexosamines using 3-methyl-2-benzothiazolone hydrazone hydrochloride. Chem Pharm Bull (Tokyo) (1969) 1.72

Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. Am J Hum Genet (1991) 1.72

A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. N Engl J Med (1994) 1.72

Role of the renin-angiotensin system in vascular diseases: expanding the field. Hypertension (2001) 1.72

Characterization of a human H9N2 influenza virus isolated in Hong Kong. Vaccine (2001) 1.71

Ultrastructure of human malignant diffuse mesothelioma. Am J Pathol (1976) 1.70

The Mesangium of the Renal Glomerulus: Electron Microscopic Studies of Pathologic Alterations. Am J Pathol (1963) 1.70

Studies on inactivation of kanamycin and resistances of E. coli. J Antibiot (Tokyo) (1967) 1.67

A simple method to assess osteoclast-mediated bone resorption using unfractionated bone cells. Bone Miner (1992) 1.66

A new, simple method for cold storage of the pancreas using perfluorochemical. Transplantation (1988) 1.65

Pretreatment virus load and multiple amino acid substitutions in the interferon sensitivity-determining region predict the outcome of interferon treatment in patients with chronic genotype 1b hepatitis C virus infection. Hepatology (1997) 1.65

Intermedilysin, a novel cytotoxin specific for human cells secreted by Streptococcus intermedius UNS46 isolated from a human liver abscess. Infect Immun (1996) 1.65

Recognition of N-glycolylneuraminic acid linked to galactose by the alpha2,3 linkage is associated with intestinal replication of influenza A virus in ducks. J Virol (2000) 1.63

TNF-alpha, nitric oxide and IFN-gamma are all critical for development of necrosis in the small intestine and early mortality in genetically susceptible mice infected perorally with Toxoplasma gondii. Parasite Immunol (1999) 1.63

CREB-H: a novel mammalian transcription factor belonging to the CREB/ATF family and functioning via the box-B element with a liver-specific expression. Nucleic Acids Res (2001) 1.62

Electric field-induced magnetization switching in epitaxial columnar nanostructures. Nano Lett (2005) 1.61

Apoptosis is a major mode of cell death caused by ischaemia and ischaemia/reperfusion injury to the rat intestinal epithelium. Gut (1998) 1.61

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet (1999) 1.61

Glomerulonephritis in autopsy cases with hepatitis C virus infection. Intern Med (1998) 1.61

Female preponderance of Parkinson's disease in Japan. Neuroepidemiology (2002) 1.60

Search for supersymmetry using final states with one lepton, jets, and missing transverse momentum with the ATLAS detector in √s=7 TeV pp collisions. Phys Rev Lett (2011) 1.60

Characterization of serum platelet-activating factor (PAF) acetylhydrolase. Correlation between deficiency of serum PAF acetylhydrolase and respiratory symptoms in asthmatic children. J Clin Invest (1988) 1.60

Retracted Identification and role of adenylyl cyclase in auxin signalling in higher plants. Nature (1998) 1.59

Intra-arterial infusion of fasudil hydrochloride for treating vasospasm following subarachnoid haemorrhage. Acta Neurochir (Wien) (1999) 1.57