马罗托-拉米病（黏多糖贮积症VI型），A型亚型：N-乙酰半乳糖胺-4-硫酸酯酶缺乏症 - Suppr

Suppr

超能文献

Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase.

作者信息

O'Brien J F, Cantz M, Spranger J

出版信息

Biochem Biophys Res Commun. 1974 Oct 8;60(3):1170-7. doi: 10.1016/0006-291x(74)90435-5.

DOI:10.1016/0006-291x(74)90435-5

PMID:4215420

Abstract

摘要

相似文献

Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase.

Biochem Biophys Res Commun. 1974 Oct 8;60(3):1170-7. doi: 10.1016/0006-291x(74)90435-5.

Proceedings: The defect in Maroteaux-Lamy disease (mucopolysaccharidosis VI, subtype A): deficiency of N-acetylgalactosamine-4-sulfatase.

Hoppe Seylers Z Physiol Chem. 1974 Oct;355(10):1235.

Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome.

Biochem Biophys Res Commun. 1974 Dec 23;61(4):1450-7. doi: 10.1016/s0006-291x(74)80446-8.

Human N-acetylgalactosamine-4-sulphatase biosynthesis and maturation in normal, Maroteaux-Lamy and multiple-sulphatase-deficient fibroblasts.

Biochem J. 1990 Jun 1;268(2):379-86. doi: 10.1042/bj2680379.

Characterization of dermatan sulfate in mucopolysaccharidosis VI. Evidence for the absence of hyaluronidase-like enzymes in human skin fibroblasts.

Biochim Biophys Acta. 1980 Jun 5;630(1):10-4. doi: 10.1016/0304-4165(80)90131-2.

Uridine diphospho-N-acetylgalactosamine-4-sulfate sulfohydrolase activity of human arylsulfatase B and its deficiency in the Maroteaux-Lamy syndrome.

Biochem Biophys Res Commun. 1975 Jan 2;64(3):955-62. doi: 10.1016/0006-291x(75)90140-0.

Arylsulphatase B (Maroteaux-Lamy factor): a part of the enzyme system responsible for sulphate release from mucopolysaccharide fragment.

FEBS Lett. 1976 May 15;65(1):63-8. doi: 10.1016/0014-5793(76)80622-9.

Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses.

Science. 1978 Jan 6;199(4324):79-81. doi: 10.1126/science.199.4324.79.

[The early diagnosis of Maroteaux-Lamy syndrome with confirmation of arylsulphatase deficiency].

Arch Fr Pediatr. 1977 Apr;34(4):362-70.

Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts.

Biochem Biophys Res Commun. 1974 Jul 24;59(2):455-61. doi: 10.1016/s0006-291x(74)80001-x.

引用本文的文献

Profound Impact of Decline in N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B) on Molecular Pathophysiology and Human Diseases.

Int J Mol Sci. 2022 Oct 29;23(21):13146. doi: 10.3390/ijms232113146.

Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI.

Front Physiol. 2022 Sep 21;13:998039. doi: 10.3389/fphys.2022.998039. eCollection 2022.

Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.

Int J Mol Sci. 2021 Dec 15;22(24):13456. doi: 10.3390/ijms222413456.

Odiparcil, a potential glycosaminoglycans clearance therapy in mucopolysaccharidosis VI-Evidence from in vitro and in vivo models.

PLoS One. 2020 May 15;15(5):e0233032. doi: 10.1371/journal.pone.0233032. eCollection 2020.

Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses.

Nat Chem Biol. 2012 Jan 8;8(2):197-204. doi: 10.1038/nchembio.766.

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

Anal Chem. 2010 Nov 15;82(22):9587-91. doi: 10.1021/ac102090v. Epub 2010 Oct 20.

Sulfatase activities towards the regulation of cell metabolism and signaling in mammals.

Cell Mol Life Sci. 2010 Mar;67(5):769-80. doi: 10.1007/s00018-009-0203-3. Epub 2009 Nov 22.

Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.

J Inherit Metab Dis. 2005;28(6):1027-34. doi: 10.1007/s10545-005-0020-2.

Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI.

Proc Natl Acad Sci U S A. 1996 Aug 6;93(16):8214-9. doi: 10.1073/pnas.93.16.8214.

Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

Hum Genet. 1994 Mar;93(3):259-64. doi: 10.1007/BF00212019.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验