Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes
about
Characterization of the human lysosomal alpha-glucosidase geneStructure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2Isolation and characterization of the human parathyroid hormone-like peptide geneA pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screeningThe 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-hexosaminidaseIdentification of domains in human beta-hexosaminidase that determine substrate specificityCloning and sequence analysis of a cDNA encoding the alpha-subunit of mouse beta-N-acetylhexosaminidase and comparison with the human enzyme.Sterol-modulated glycolipid sorting occurs in niemann-pick C1 late endosomes.Phylogenetic analyses suggest multiple changes of substrate specificity within the glycosyl hydrolase 20 family.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.Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.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)Genetics of inherited human epilepsiesCharacterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease).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.Genetic evidence on the demography of speciation in allopatric dolphin species.Effects of flavone derivatives on antigen-stimulated degranulation in RBL-2H3 cells.Introduction of an N-glycan sequon into HEXA enhances human beta-hexosaminidase cellular uptake in a model of Sandhoff disease.Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.The 5' splice site: phylogenetic evolution and variable geometry of association with U1RNA.Identification of candidate active site residues in lysosomal beta-hexosaminidase A.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.Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis.Enzymatic characterization and molecular modeling of an evolutionarily interesting fungal β-N-acetylhexosaminidase.A novel secreted endoglycosidase from Enterococcus faecalis with activity on human immunoglobulin G and ribonuclease B.β-hexosaminidase from Xenopus laevis eggs and oocytes: from gene to immunochemical characterization.A novel beta-N-acetyl-D-hexosaminidase from the insect Ostrinia furnacalis (Guenée).
P2860
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P2860
Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes
description
1988 nî lūn-bûn
@nan
1988 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի մարտին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Gene encoding the human beta-h ...... he alpha- and beta-chain genes
@ast
Gene encoding the human beta-h ...... he alpha- and beta-chain genes
@en
Gene encoding the human beta-h ...... he alpha- and beta-chain genes
@nl
type
label
Gene encoding the human beta-h ...... he alpha- and beta-chain genes
@ast
Gene encoding the human beta-h ...... he alpha- and beta-chain genes
@en
Gene encoding the human beta-h ...... he alpha- and beta-chain genes
@nl
prefLabel
Gene encoding the human beta-h ...... he alpha- and beta-chain genes
@ast
Gene encoding the human beta-h ...... he alpha- and beta-chain genes
@en
Gene encoding the human beta-h ...... he alpha- and beta-chain genes
@nl
P2860
P356
P1476
Gene encoding the human beta-h ...... he alpha- and beta-chain genes
@en
P2093
P2860
P304
P356
10.1073/PNAS.85.6.1883
P407
P577
1988-03-01T00:00:00Z