The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide.
作者信息
Fratantoni J C, Hall C W, Neufeld E F
出版信息
Proc Natl Acad Sci U S A. 1968 Jun;60(2):699-706. doi: 10.1073/pnas.60.2.699.
Abstract
摘要
相似文献
1
The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide.黏多糖贮积症Ⅰ型（胡尔勒氏综合征）和黏多糖贮积症Ⅱ型（亨特氏综合征）中的缺陷：黏多糖降解异常。
Proc Natl Acad Sci U S A. 1968 Jun;60(2):699-706. doi: 10.1073/pnas.60.2.699.
2
Hurler's, Hunter's and Morquio's syndromes. A biochemical study in the light of current views of the underlying defects.胡勒氏综合征、亨特氏综合征和莫尔基奥氏综合征。基于对潜在缺陷的当前观点的生化研究。
Biochem J. 1971 Aug;123(5):883-94. doi: 10.1042/bj1230883.
3
The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation.黏多糖贮积症Ⅰ型和Ⅱ型中的缺陷。Ⅱ. 黏多糖降解中特定因子的缺乏。
Proc Natl Acad Sci U S A. 1969 Sep;64(1):360-6. doi: 10.1073/pnas.64.1.360.
4
Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts.黏多糖贮积症Ⅰ型和Ⅱ型：培养成纤维细胞中缺陷的相互校正。
Science. 1968 Nov 1;162(3853):570-2. doi: 10.1126/science.162.3853.570.
5
Diagnosis of Hunter's syndrome carriers; radioactive sulphate incorporation into fibroblasts in the presence or fructose 1-phosphate.亨特综合征携带者的诊断；在有或没有1-磷酸果糖存在的情况下，放射性硫酸盐掺入成纤维细胞。
Hum Genet. 1982;60(2):167-71. doi: 10.1007/BF00569706.
6
Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture.胡勒氏综合征：组织培养中酸性粘多糖的生物合成。
Proc Natl Acad Sci U S A. 1966 Oct;56(4):1310-6. doi: 10.1073/pnas.56.4.1310.
7
[Biochemical differentiation of Hurler's and Hunter's diseases by fracionation of heparitin sulfate].[通过硫酸乙酰肝素分级分离对Hurler病和Hunter病进行生化鉴别]
Rev Eur Etud Clin Biol. 1970 Feb;15(2):203-5.
8
Fibroblast cultures in Hurler's and Hunter's syndromes. An ultrastructural study.黏多糖贮积症Ⅰ型和Ⅱ型中的成纤维细胞培养。一项超微结构研究。
Arch Pathol. 1970 Mar;89(3):279-85.
9
The biochemistry of Hurler's syndrome.黏多糖贮积症Ⅰ型的生物化学
Enzymol Biol Clin (Basel). 1969;10(6):534-48. doi: 10.1159/000458339.
10
The Hurler and Hunter syndromes.黏多糖贮积症Ⅰ型和Ⅱ型综合征。
Am J Med. 1969 Nov;47(5):691-707. doi: 10.1016/0002-9343(69)90164-8.
引用本文的文献
1
A Compendium of Information on the Lysosome.溶酶体信息汇编
Front Cell Dev Biol. 2021 Dec 15;9:798262. doi: 10.3389/fcell.2021.798262. eCollection 2021.
2
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.黏多糖贮积症 II 型：百年的研究、诊断和治疗。
Int J Mol Sci. 2020 Feb 13;21(4):1258. doi: 10.3390/ijms21041258.
3
The new frame for Mucopolysaccharidoses.黏多糖贮积症的新框架。
Ital J Pediatr. 2018 Nov 16;44(Suppl 2):117. doi: 10.1186/s13052-018-0549-y.
4
Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).II型粘多糖贮积症（MPS II；亨特综合征）的临床表现与治疗方法。
Expert Opin Orphan Drugs. 2017;5(4):295-307. doi: 10.1080/21678707.2017.1296761. Epub 2017 Mar 8.
5
Enzyme replacement therapy and beyond-in memoriam Roscoe O. Brady, M.D. (1923-2016).酶替代疗法及其他——纪念罗斯科·O·布雷迪医学博士（1923 - 2016）
J Inherit Metab Dis. 2017 May;40(3):343-356. doi: 10.1007/s10545-017-0032-8. Epub 2017 Mar 17.
6
Mucopolysacccharidoses: From understanding to treatment, a century of discoveries.黏多糖贮积症：从认识到治疗，一个世纪的探索。
Genet Mol Biol. 2012 Dec;35(4 (suppl)):924-31. doi: 10.1590/s1415-47572012000600006. Epub 2012 Dec 18.
7
Noninvasive diagnosis of mucopolysaccharidosis via depth-resolved optical spectroscopy of the outer ear.通过外耳深度分辨光谱法对黏多糖贮积症进行无创诊断。
Biomed Opt Express. 2011 Oct 1;2(10):2741-8. doi: 10.1364/BOE.2.002741. Epub 2011 Sep 6.
8
Secondary storage of dermatan sulfate in Sanfilippo disease.黏多糖贮积症Ⅱ型中硫酸皮肤素的次储形式。
J Biol Chem. 2011 Mar 4;286(9):6955-62. doi: 10.1074/jbc.M110.192062. Epub 2010 Dec 30.
9
alpha-L-iduronidase therapy for mucopolysaccharidosis type I.α-L-艾杜糖醛酸酶治疗I型黏多糖贮积症
Biologics. 2008 Dec;2(4):743-51. doi: 10.2147/btt.s3180.
10
Aptamer-based endocytosis of a lysosomal enzyme.基于适配体的溶酶体酶内吞作用。
Proc Natl Acad Sci U S A. 2008 Oct 14;105(41):15908-13. doi: 10.1073/pnas.0808360105. Epub 2008 Oct 6.
本文引用的文献
1
Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
2
STUDIES ON CARTILAGE. V. ELECTRON MICROSCOPIC OBSERVATIONS ON THE AUTORADIOGRAPHIC LOCALIZATION OF S35 IN CELLS AND MATRIX.软骨研究。V. 对³⁵S在细胞和基质中的放射自显影定位的电子显微镜观察
J Ultrastruct Res. 1964 Aug;11:166-72. doi: 10.1016/s0022-5320(64)80100-3.
3
ON THE SITE OF SULFATION IN THE CHONDROCYTE.关于软骨细胞中硫酸化的位点
J Cell Biol. 1964 Jun;21(3):353-66. doi: 10.1083/jcb.21.3.353.
4
Metabolism of sulfur compounds (sulfate metabolism).硫化合物的代谢（硫酸盐代谢）。
Annu Rev Biochem. 1960;29:347-64. doi: 10.1146/annurev.bi.29.070160.002023.
5
A method for separation of chondroitin sulfate B from isomers A and C by paper electrophoresis with zinc sulphate or zinc acetate solution as electrolyte medium.
Biochim Biophys Acta. 1967 Mar 22;136(2):391-3. doi: 10.1016/0304-4165(67)90086-4.
6
The sphingolipidoses.鞘脂贮积症
N Engl J Med. 1966 Aug 11;275(6):312-8. doi: 10.1056/NEJM196608112750606.
7
Functions of lysosomes.溶酶体的功能。
Annu Rev Physiol. 1966;28:435-92. doi: 10.1146/annurev.ph.28.030166.002251.
8
The biosynthesis of chondroitin-sulfate protein complex.硫酸软骨素蛋白复合物的生物合成。
Proc Natl Acad Sci U S A. 1965 Sep;54(3):912-9. doi: 10.1073/pnas.54.3.912.
9
Hurler's syndrome: demonstration of an inherited disorder of connective tissue in cell culture.胡勒氏综合征：细胞培养中一种遗传性结缔组织疾病的证明。
Science. 1965 Aug 27;149(3687):987-9. doi: 10.1126/science.149.3687.987.
10
Structure of dermatan sulfate. II. Characterization of products obtained by hyaluronidase digestion of dermatan sulfate.硫酸皮肤素的结构。II. 硫酸皮肤素经透明质酸酶消化所得产物的特性
J Biol Chem. 1967 Sep 25;242(18):4170-5.
Zotero 插件