Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain
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Human lysosomal acid phosphatase: cloning, expression and chromosomal assignmentCloning, sequencing, and expression of cDNA for human beta-glucuronidaseHuman alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzymeStructural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated regionGene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genesA second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimationThe molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutationTay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidaseCoding sequence of the precursor of the beta subunit of rat propionyl-CoA carboxylaseCloning and sequence analysis of a cDNA encoding the alpha-subunit of mouse beta-N-acetylhexosaminidase and comparison with the human enzyme.Purification, characterization, and cloning of a Spodoptera frugiperda Sf9 beta-N-acetylhexosaminidase that hydrolyzes terminal N-acetylglucosamine on the N-glycan core.Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.Nonsense-mediated decay of human HEXA mRNA.A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant)Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts.A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease.GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.Cloning and sequence analysis of a cDNA encoding the beta-subunit of mouse beta-hexosaminidase.Sequence analysis of the beta-N-acetylhexosaminidase gene of Vibrio vulnificus: evidence for a common evolutionary origin of hexosaminidases.Nucleotide sequence of rat preputial gland beta-glucuronidase cDNA and in vitro insertion of its encoded polypeptide into microsomal membranes.Cloning and expression of the beta-N-acetylglucosaminidase gene from Streptococcus pneumoniae. Generation of truncated enzymes with modified aglycon specificity.Molecular cloning and expression of the Candida albicans beta-N-acetylglucosaminidase (HEX1) gene.Molecular cloning and functional characterization of beta-N-acetylglucosaminidase genes from Sf9 cells.A fused lobes gene encodes the processing beta-N-acetylglucosaminidase in Sf9 cells.Purification and characterization of thermostable beta-N-acetylhexosaminidase of Bacillus stearothermophilus CH-4 isolated from chitin-containing compostDetection of single base differences using biotinylated nucleotides with very long linker arms.beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish populationIntermediate forms of human beta-N-acetylhexosaminidase lack activity towards 4-methylumbelliferyl beta-N-acetylglucosaminide 6-sulphate.The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.Identification of beta-N-acetylhexosaminidase A in mouse tissues with the fluorigenic substrate 4-methylumbelliferyl-beta-N-acetylglucosamine 6-sulphate.Assessing the severity of the small inframe deletion mutation in the alpha-subunit of beta-hexosaminidase A found in the Turkish population by reproducing it in the more stable beta-subunit.Absence of metabolic cross-correction in Tay-Sachs cells: implications for gene therapy.Structural and functional characterization of Streptomyces plicatus beta-N-acetylhexosaminidase by comparative molecular modeling and site-directed mutagenesis.
P2860
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P2860
Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain
description
1985 nî lūn-bûn
@nan
1985年の論文
@ja
1985年学术文章
@wuu
1985年学术文章
@zh-cn
1985年学术文章
@zh-hans
1985年学术文章
@zh-my
1985年学术文章
@zh-sg
1985年學術文章
@yue
1985年學術文章
@zh
1985年學術文章
@zh-hant
name
Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain
@ast
Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain
@en
type
label
Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain
@ast
Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain
@en
prefLabel
Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain
@ast
Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain
@en
P2093
P2860
P356
P1476
Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain
@en
P2093
P2860
P304
P356
10.1073/PNAS.82.23.7830
P407
P577
1985-12-01T00:00:00Z