神经节苷脂贮积症的生化基础。 - Suppr

The biochemical basis of gangliosidoses.

作者信息

Sandhoff K, Conzelmann E

出版信息

Neuropediatrics. 1984 Sep;15 Suppl:85-92. doi: 10.1055/s-2008-1052387.

DOI:10.1055/s-2008-1052387

PMID:6242704

Abstract

摘要

相似文献

The biochemical basis of gangliosidoses.

Neuropediatrics. 1984 Sep;15 Suppl:85-92. doi: 10.1055/s-2008-1052387.

Synopsis: gangliosidoses.

Neuropediatrics. 1984 Sep;15 Suppl:107-9. doi: 10.1055/s-2008-1052390.

Assay of the GM2-ganglioside cleaving hexosaminidase activity of skin fibroblasts for GM2-gangliosidoses.

Clin Chim Acta. 1983 Nov 30;135(1):89-93. doi: 10.1016/0009-8981(83)90392-3.

[Biosynthesis and biodegradation of GM2 ganglioside].

Tanpakushitsu Kakusan Koso. 1984 Sep;29(9):708-22.

Morphology of the gangliosidoses.

Neuropediatrics. 1984 Sep;15 Suppl:97-106. doi: 10.1055/s-2008-1052389.

Assay of ganglioside GM2-N-acetyl-beta-D-galactosaminidase activity in human fibroblasts employing the natural activator protein--diagnosis of variant forms of GM2 gangliosidosis.

Clin Chim Acta. 1980 Dec 22;108(3):361-8. doi: 10.1016/0009-8981(80)90342-3.

[Beta-N-acetyl-hexosaminidase--the enzyme of Tay-Sachs and Sandhoff diseases].

Postepy Biochem. 1992;38(3):127-32.

Synthesis of novel NBD-GM1 and NBD-GM2 for the transfer activity of GM2-activator protein by a FRET-based assay system.

Glycobiology. 2005 Dec;15(12):1302-11. doi: 10.1093/glycob/cwj018. Epub 2005 Aug 3.

High-resolution loading tests in the study of genetic heterogeneity in gangliosidosis fibroblasts.

J Inherit Metab Dis. 1994;17(1):104-11. doi: 10.1007/BF00735405.

[Recent advances in molecular genetics of GM2 gangliosidosis].

Nihon Rinsho. 1995 Dec;53(12):2988-93.

引用本文的文献

CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.

Front Mol Biosci. 2020 Nov 12;7:559804. doi: 10.3389/fmolb.2020.559804. eCollection 2020.

Spectrum of paediatric lysosomal storage disorders in oman.

Sultan Qaboos Univ Med J. 2012 Aug;12(3):295-9. doi: 10.12816/0003142. Epub 2012 Jul 15.

Hyaluronidase 1 and β-hexosaminidase have redundant functions in hyaluronan and chondroitin sulfate degradation.

J Biol Chem. 2012 May 11;287(20):16689-97. doi: 10.1074/jbc.M112.350447. Epub 2012 Mar 26.

Upregulation of the genes encoding lysosomal hydrolases, a perforin-like protein, and peroxidases in the brains of mice affected with an experimental prion disease.

J Virol. 2000 Jan;74(1):411-7. doi: 10.1128/jvi.74.1.411-417.2000.

Glycosphingolipids as potential diagnostic markers and/or antigens in neurological disorders.

Neurochem Res. 1997 Aug;22(8):1071-83. doi: 10.1023/a:1022495430583.

MRI in a case of Sandhoff's disease.

Neuroradiology. 1996 May;38 Suppl 1:S178-80. doi: 10.1007/BF02278152.

GM-2 gangliosidosis (Sandhoff's disease): two year follow-up by MRI.

Neuroradiology. 1994;36(2):152-4. doi: 10.1007/BF00588086.

An in vitro model for abnormal skeletal development in the lysosomal storage diseases.

Virchows Arch. 1995;426(2):135-40. doi: 10.1007/BF00192634.

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.

Proc Natl Acad Sci U S A. 1988 Jun;85(11):3955-9. doi: 10.1073/pnas.85.11.3955.

Lectin histochemistry of gangliosidosis. II. Neurovisceral tissues from patients with Sandhoff's disease.

Acta Neuropathol. 1988;76(4):359-65. doi: 10.1007/BF00686972.

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

The biochemical basis of gangliosidoses.

作者信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献