Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts
about
Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosisHuman aspartylglucosaminidase. A biochemical and immunocytochemical characterization of the enzyme in normal and aspartylglucosaminuria fibroblastsTransport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A.A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstableCharacterization of the Glu and Asp residues in the active site of human beta-hexosaminidase BFour novel PEPD alleles causing prolidase deficiencyExpression and molecular analysis of mutations in prolidase deficiencyTransglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated populationProlidase deficiency: biochemical classification of allelesTay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidaseNeuraminidase 1 is a negative regulator of lysosomal exocytosisGene transfer corrects acute GM2 gangliosidosis--potential therapeutic contribution of perivascular enzyme flowPyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.Lending a helping hand, screening chemical libraries for compounds that enhance beta-hexosaminidase A activity in GM2 gangliosidosis cellsTwo 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.Multi-system disorders of glycosphingolipid and ganglioside metabolismA sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysatesPharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1Conformation of protein secreted across bacterial outer membranes: a study of enterotoxin translocation from Vibrio cholerae.Characterization of a new model of GM2-gangliosidosis (Sandhoff's disease) in Korat catsA third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease.Two abnormalities of hexosaminidase A in clinically normal individuals.Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chainEgg cortical granule N-acetylglucosaminidase is required for the mouse zona block to polyspermycDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts.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.Hyaluronidase 1 and β-hexosaminidase have redundant functions in hyaluronan and chondroitin sulfate degradation.Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.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.
P2860
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P2860
Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts
description
1984 nî lūn-bûn
@nan
1984 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1984 թվականի մարտին հրատարակված գիտական հոդված
@hy
1984年の論文
@ja
1984年論文
@yue
1984年論文
@zh-hant
1984年論文
@zh-hk
1984年論文
@zh-mo
1984年論文
@zh-tw
1984年论文
@wuu
name
Association of alpha- and beta ...... in cultured human fibroblasts
@ast
Association of alpha- and beta ...... in cultured human fibroblasts
@en
Association of alpha- and beta ...... in cultured human fibroblasts
@en-gb
Association of alpha- and beta ...... in cultured human fibroblasts
@nl
type
label
Association of alpha- and beta ...... in cultured human fibroblasts
@ast
Association of alpha- and beta ...... in cultured human fibroblasts
@en
Association of alpha- and beta ...... in cultured human fibroblasts
@en-gb
Association of alpha- and beta ...... in cultured human fibroblasts
@nl
prefLabel
Association of alpha- and beta ...... in cultured human fibroblasts
@ast
Association of alpha- and beta ...... in cultured human fibroblasts
@en
Association of alpha- and beta ...... in cultured human fibroblasts
@en-gb
Association of alpha- and beta ...... in cultured human fibroblasts
@nl
P2093
P921
P1476
Association of alpha- and beta ...... in cultured human fibroblasts
@en
P2093
P304
P407
P577
1984-03-10T00:00:00Z