Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man. - Wikidata - wikimedia - TriplyDB

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

http://www.wikidata.org/entity/Q36305733

about

Purification, cDNA cloning, and expression of a new human blood plasma glutamate carboxypeptidase homologous to N-acetyl-aspartyl-alpha-glutamate carboxypeptidase/prostate-specific membrane antigen Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor Molecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradation Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A.Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable Nucleotide sequence of cloned cDNA for human sphingolipid activator protein 1 precursor The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6 Molecular mechanisms for the conversion of zymogens to active proteolytic enzymes Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis Gamma-interferon-inducible lysosomal thiol reductase (GILT). Maturation, activity, and mechanism of action Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate The atomic model of the human protective protein/cathepsin A suggests a structural basis for galactosialidosis.Human chromosome 22.Stable expression of protective protein/cathepsin A-green fluorescent protein fusion genes in a fibroblastic cell line from a galactosialidosis patient. Model system for revealing the intracellular transport of normal and mutated lysosomal enzymes.Lysosomal multienzyme complex: pros and cons of working together Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex.Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity.Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families.A vitellogenic-like carboxypeptidase expressed by human macrophages is localized in endoplasmic reticulum and membrane ruffles.Inhibition of CatA: an emerging strategy for the treatment of heart failure.Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy.Biosynthesis and maturation of alpha-N-acetylglucosaminidase in normal and Sanfilippo B-fibroblasts.Complementation of multiple sulfatase deficiency in somatic cell hybrids The metabolic serine hydrolases and their functions in mammalian physiology and disease.The genetic and molecular bases of monogenic disorders affecting proteolytic systems.Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders.The lesions of an ovine lysosomal storage disease. Initial characterization.The lysosomal proenzyme receptor that binds procathepsin L to microsomal membranes at pH 5 is a 43-kDa integral membrane protein.Galactosialidosis: review and analysis of CTSA gene mutations Conjunctival biopsy in adult form galactosialidosis.Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases.Sialidase significance for cancer progression.The glycosphingolipid hydrolases in the central nervous system.Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.Trafficking of lysosomal enzymes in normal and disease states.The blood-epididymis barrier and inflammation Galactosialidosis: historic aspects and overview of investigated and emerging treatment options.Sialylation of N-glycans: mechanism, cellular compartmentalization and function.

P2860

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P2860

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

http://www.wikidata.org/entity/Q36305733

description

1982 nî lūn-bûn

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1982年の論文

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1982年学术文章

@wuu

1982年学术文章

@zh-cn

1982年学术文章

@zh-hans

1982年学术文章

@zh-my

1982年学术文章

@zh-sg

1982年學術文章

@yue

1982年學術文章

@zh

1982年學術文章

@zh-hant

name

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

@ast

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

@en

type

label

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

@ast

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

@en

prefLabel

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

@ast

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

@en

P1433

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P356

PNAS.79.15.4535

P1433

Proceedings of the National Academy of Sciences of the United States of America

P1476

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

@en

P2093

D'Azzo A

http://www.w3.org/2001/XMLSchema#string

Galjaard H

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Hoogeveen A

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Reuser AJ

http://www.w3.org/2001/XMLSchema#string

Robinson D

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P2860

Cleavage of structural proteins during the assembly of the head of bacteriophage T4

Specific inactivation of lysosomal glycosidases in living fibroblasts by the corresponding glycosylmethyl-p-nitrophenyltriazenes

Turnover of beta-galactosidase in fibroblasts from patients with genetically different types of beta-galactosidase deficiency

A film detection method for tritium-labelled proteins and nucleic acids in polyacrylamide gels

Sialidosis: a review of human neuraminidase deficiency.

Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts.

Macular cherry-red spots and myoclonus with dementia: coexistent neuraminidase and beta-galactosidase deficiencies.

Atypical expression of beta-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities.

Intergenic complementation after fusion of fibroblasts from different patients with beta-galactosidase deficiency.

Biosynthesis of two lysosomal enzymes in macrophages. Evidence for a precursor of beta-galactosidase.

P304

4535-4539

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scholarly article

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10.1073/PNAS.79.15.4535

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15

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79

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16387065

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6812049

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346709

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