Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.
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 antigenCathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptorMolecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradationTransport 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 disorderAspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the diseaseA mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstableNucleotide sequence of cloned cDNA for human sphingolipid activator protein 1 precursorThe genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6Molecular mechanisms for the conversion of zymogens to active proteolytic enzymesMutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosisGamma-interferon-inducible lysosomal thiol reductase (GILT). Maturation, activity, and mechanism of actionAssociation 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 sulfateThe 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 togetherMutations 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 hybridsThe 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 mutationsConjunctival 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 inflammationGalactosialidosis: historic aspects and overview of investigated and emerging treatment options.Sialylation of N-glycans: mechanism, cellular compartmentalization and function.
P2860
Q22009409-ED2524A9-D3F1-45E6-ABD6-152469500C91Q24337837-1DF52047-D5DB-43A5-9D90-462D80874334Q24530675-01AF887E-BE86-4B42-BEE8-F77769F01428Q24533181-2961C5C2-9B51-4B91-96D8-2967ADE5553AQ24540041-A8CAF075-B659-49F0-B098-41866E85AB23Q24561571-686DBEDE-1BD0-449B-A92A-987E76ECB4AEQ24564644-ED2A7C78-F26B-41E8-BA2B-66A064294900Q24631874-130AA8D4-2377-4B5F-ACBB-C1118866B024Q24673029-9412C45B-8167-4483-AB52-C7BE3160A690Q24673104-AC3B6892-A224-439D-920E-A51550464074Q24673111-3667F117-582B-4BBB-8E66-9762E60F0029Q28138259-F9609CB0-6D32-44FB-A914-0218A2E7CAF7Q28296273-F5DECC06-AEA7-4ABD-8835-B93BFF185D9BQ30429249-684C3886-A9F0-420E-9DF7-8A75678D995EQ30495423-A4AB768D-4CBE-4940-ABB6-ED2AEF5942D1Q30631709-07E5A635-DF90-4B7E-A186-C1E8A7DED7F1Q33682632-CE5F5754-2EC8-4EF9-BCB7-7C5B68DBEF27Q33940580-C822D419-B35A-4C93-B060-A5CD4C9FBCD7Q34221523-9DF2E7BC-4479-45C4-976D-A8DCCE164FCAQ34390195-5C7C63B7-C791-4603-830A-30D6941D050CQ34488006-14342852-84AB-42F3-AC62-67ED93AF37A7Q34621201-962B84CE-7AC9-487B-85B8-1CD2EDE0228FQ35037640-D6591C9E-62FC-4ED0-A22E-773B2EFBF5BFQ35199651-AB746783-C4EF-44D9-A6BA-774B1EE8346DQ35199889-A6F8FA6F-CCBE-4C64-9249-69786E282702Q35333042-2E7C544A-0576-4DEB-9FCB-757460305F4EQ35448691-960BD67C-5743-4C02-BBCF-475A663E876BQ35595384-A91755E5-7664-4B00-BE95-DD31BEAF4B07Q35816193-D0C5CAFF-C274-498E-9722-188B61695CD1Q36661989-3FE32FCD-6E88-442B-A2AA-C2EE610EA48EQ37079230-FBFE60B5-4C15-40EC-99B2-28E65AA9E46CQ37300057-E38D4050-CC67-4B13-93FE-4344A0B31D58Q37690419-40F59BCA-0C2A-4A6A-A0A4-63A5AF2AA9FCQ38014310-59C64FC2-C272-4A59-87F4-EC154B7F7864Q38166684-FEA5E087-9D3F-406D-92CC-82E753276337Q38318365-4A08AC64-EFFC-4E67-88E1-CF5F115EE939Q38351553-E476E91C-D1F7-420F-82D6-B4456D25A057Q38594314-5EB2E3F4-D0D8-43E6-84FF-39B69B15F85CQ38672166-2A29B7DD-63D4-4486-8CF5-9A4A6BE61113Q39038778-F016823D-519B-4451-8D1A-89F970323590
P2860
Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.
description
1982 nî lūn-bûn
@nan
1982年の論文
@ja
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
P2093
P2860
P356
P1476
Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.
@en
P2093
P2860
P304
P356
10.1073/PNAS.79.15.4535
P407
P577
1982-08-01T00:00:00Z