Published in FEBS Lett on September 12, 1988
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Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. Am J Hum Genet (1991) 1.44
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Assignment of the alpha and beta chains of human propionyl-CoA carboxylase to genetic complementation groups. Am J Hum Genet (1983) 1.27
Complementation analysis in Gaucher disease using single cell microassay techniques. Evidence for a single "Gaucher gene". Hum Genet (1983) 1.23
Uncoupling of early signal transduction events from effector function in human peripheral blood neutrophils in response to recombinant macrophage inflammatory proteins-1 alpha and -1 beta. J Immunol (1993) 1.22
Physical map of Campylobacter jejuni TGH9011 and localization of 10 genetic markers by use of pulsed-field gel electrophoresis. J Bacteriol (1992) 1.17
A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease. J Biol Chem (1998) 1.15
The human erythrocyte inflammatory peptide (chemokine) receptor. Biochemical characterization, solubilization, and development of a binding assay for the soluble receptor. Biochemistry (1993) 1.14
Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits. J Biol Chem (1988) 1.14
A high recovery method for concentrating microgram quantities of protein from large volumes of solution. Anal Biochem (1983) 1.14
Expression in Escherichia coli of N- and C-terminally deleted human holocarboxylase synthetase. Influence of the N-terminus on biotinylation and identification of a minimum functional protein. J Biol Chem (2000) 1.13
Introduction of the alpha subunit mutation associated with the B1 variant of Tay-Sachs disease into the beta subunit produces a beta-hexosaminidase B without catalytic activity. J Biol Chem (1989) 1.12
Isolation and expression of a full-length cDNA encoding the human GM2 activator protein. Biochem Biophys Res Commun (1991) 1.11
Evidence for two dissimilar polypeptide chains in the beta 2 subunit of hexosaminidase. Proc Natl Acad Sci U S A (1982) 1.11
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Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. Hum Mutat (1999) 1.07
Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. Mol Genet Metab (2009) 1.04
Isolation and expression in Escherichia coli of a cDNA clone encoding human beta-glucuronidase. Gene (1985) 1.02
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency. Am J Hum Genet (1982) 1.01
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism. Hum Mol Genet (1999) 1.01
Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder. Mol Genet Metab (2010) 1.00
Characterization of the Glu and Asp residues in the active site of human beta-hexosaminidase B. Biochemistry (2001) 1.00
Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit. Genomics (1994) 0.99
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease. J Clin Invest (1990) 0.99
A rapid four column purification of 2-deoxy-D-glucoside-2-sulphamate sulphohydrolase from human liver. Biochim Biophys Acta (1983) 0.99
An RFLP associated with the human catalase gene. Nucleic Acids Res (1985) 0.99
Identification of C-C chemokine receptor 1 (CCR1) as the monocyte hemofiltrate C-C chemokine (HCC)-1 receptor. J Exp Med (1998) 0.97
Characterization of polypeptides serologically and structurally related to hexosaminidase in cultured fibroblasts. J Clin Invest (1983) 0.97
Sequence homology around the biotin-binding site of human propionyl-CoA carboxylase and pyruvate carboxylase. Arch Biochem Biophys (1987) 0.97
Altered gene expression in cells from patients with lysosomal storage disorders suggests impairment of the ubiquitin pathway. Cell Death Differ (2006) 0.96
Genomic organization and biological characterization of the novel human CC chemokine DC-CK-1/PARC/MIP-4/SCYA18. Genomics (1999) 0.96
Translation initiation in the HEXB gene encoding the beta-subunit of human beta-hexosaminidase. J Biol Chem (1990) 0.96
Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch. Hum Mutat (1992) 0.95
Identification of the 6-sulfate binding site unique to alpha-subunit-containing isozymes of human beta-hexosaminidase. Biochemistry (2001) 0.95
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease. Hum Mol Genet (1994) 0.95
Identification of G-protein binding sites of the human interleukin-8 receptors by functional mapping of the intracellular loops. FASEB J (1996) 0.95
Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency. Mol Genet Metab (1999) 0.95
Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene. Hum Mol Genet (1999) 0.95
Cloning, characterization, and mapping of a murine promiscuous chemokine receptor gene: homolog of the human Duffy gene. Genome Res (1997) 0.94
Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase. Biochemistry (1988) 0.94
Characterization by nuclear magnetic resonance of the concanavalin A binding oligosaccharide on the beta b chain of placental beta-hexosaminidase B: lectin binding to the separated polypeptide chains of hexosaminidases A and B. Can J Biochem Cell Biol (1985) 0.94
Neuronal apoptosis in sudden infant death syndrome. Pediatr Res (1999) 0.93
Identification of candidate active site residues in lysosomal beta-hexosaminidase A. J Biol Chem (1997) 0.93
Widespread distribution of beta-hexosaminidase activity in the brain of a Sandhoff mouse model after coinjection of adenoviral vector and mannitol. Gene Ther (2003) 0.92
Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides. Am J Hum Genet (1979) 0.92
Molecular cloning, expression and physical mapping of the human methionine synthase reductase gene. Gene (1999) 0.91
Human placental beta-galactosidase: structural and immunological observations. Can J Biochem Cell Biol (1984) 0.91
Sleeping beauty mutase (sbm) is expressed and interacts with ygfd in Escherichia coli. Microbiol Res (2008) 0.91
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. Hum Mol Genet (1996) 0.90
A common polymorphism in methionine synthase reductase increases risk of premature coronary artery disease. J Cardiovasc Risk (2000) 0.89
Cloning of the cDNA and gene encoding mouse lysosomal sialidase and correction of sialidase deficiency in human sialidosis and mouse SM/J fibroblasts. Hum Mol Genet (1998) 0.89
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Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group. Am J Hum Genet (1987) 0.89
Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency. Am J Hum Genet (1998) 0.89
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. J Pediatr (1982) 0.89
The amino-terminal sequences in the pro-alpha and -beta polypeptides of human lysosomal beta-hexosaminidase A and B are retained in the mature isozymes. FEBS Lett (1989) 0.88
Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection. Hum Genet (1994) 0.88
Abnormalities in the NC1 domain of collagen type IV in GBM in canine hereditary nephritis. Kidney Int (1989) 0.88
Characterization of the testis and epididymis in mouse models of human Tay Sachs and Sandhoff diseases and partial determination of accumulated gangliosides. Endocrinology (1998) 0.87
Naturally occurring mutations in GM2 gangliosidosis: a compendium. Adv Genet (2001) 0.87
Diverging signal transduction pathways activated by interleukin 8 (IL-8) and related chemokines in human neutrophils. IL-8 and Gro-alpha differentially stimulate calcium influx through IL-8 receptors A and B. J Biol Chem (1996) 0.87
Proteolytic processing of the pro beta chain of beta-hexosaminidase occurs at basic residues contained within an exposed disulfide loop structure. Biochem Cell Biol (1994) 0.86
Human mitochondrial propionyl-CoA carboxylase: localization of the N-terminus of the pro- and mature alpha chains in the deduced primary sequence of a full-length cDNA. Nucleic Acids Res (1989) 0.86