人β-N-乙酰己糖胺酶的中间形式对4-甲基伞形酮基β-N-乙酰氨基葡萄糖苷6-硫酸盐缺乏活性。
Intermediate forms of human beta-N-acetylhexosaminidase lack activity towards 4-methylumbelliferyl beta-N-acetylglucosaminide 6-sulphate.
作者信息
Beccari T, Emiliani C, Hosseini R, Orlacchio A, Stirling J L
机构信息
Istituto di Chimica Biologica, Facoltà di Scienze MM.FF.NN, Università di Perugia, Italy.
出版信息
Biochem J. 1987 Jun 15;244(3):801-4. doi: 10.1042/bj2440801.
Abstract
4-Methylumbelliferyl beta-N-acetylglucosaminide 6-sulphate was purified from a mixture containing its unsulphated precursor. The substrate was used to test for the presence of functional alpha-subunits in 'intermediate' forms of human beta-N-acetylhexosaminidase in samples of normal and pregnancy serum and in extracts of placenta and lymphocytes from a patient with common acute lymphoblastic leukaemia. Intermediate forms in these samples had no activity towards 4-methylumbelliferyl beta-N-acetylglucosaminide 6-sulphate, indicating that they lack alpha-subunits.
摘要
从含有其未硫酸化前体的混合物中纯化出4-甲基伞形酮基β-N-乙酰氨基葡萄糖苷6-硫酸盐。该底物用于检测正常血清和妊娠血清样本以及一名普通急性淋巴细胞白血病患者的胎盘和淋巴细胞提取物中人类β-N-乙酰己糖胺酶“中间”形式中功能性α亚基的存在。这些样本中的中间形式对4-甲基伞形酮基β-N-乙酰氨基葡萄糖苷6-硫酸盐没有活性，表明它们缺乏α亚基。
相似文献
1
Intermediate forms of human beta-N-acetylhexosaminidase lack activity towards 4-methylumbelliferyl beta-N-acetylglucosaminide 6-sulphate.人β-N-乙酰己糖胺酶的中间形式对4-甲基伞形酮基β-N-乙酰氨基葡萄糖苷6-硫酸盐缺乏活性。
Biochem J. 1987 Jun 15;244(3):801-4. doi: 10.1042/bj2440801.
2
Identification of beta-N-acetylhexosaminidase A in mouse tissues with the fluorigenic substrate 4-methylumbelliferyl-beta-N-acetylglucosamine 6-sulphate.用荧光底物4-甲基伞形酮基-β-N-乙酰氨基葡萄糖6-硫酸盐鉴定小鼠组织中的β-N-乙酰己糖胺酶A
Biochem J. 1988 Jun 1;252(2):617-20. doi: 10.1042/bj2520617.
3
Increase of intermediate forms of beta-N-acetylhexosaminidase during rat liver development and regeneration.大鼠肝脏发育和再生过程中β-N-乙酰己糖胺酶中间形式的增加。
Int J Biochem. 1991;23(2):215-9. doi: 10.1016/0020-711x(91)90192-p.
4
Distribution of active alpha- and beta-subunits of beta-N-acetylhexosaminidase as a function of leukaemic cell types.β-N-乙酰己糖胺酶活性α亚基和β亚基的分布与白血病细胞类型的关系
Biochim Biophys Acta. 1997 Apr 17;1335(1-2):5-15. doi: 10.1016/s0304-4165(96)00116-x.
5
An enzyme with properties similar to those of beta-N-acetylhexosaminidase S is expressed in the promyelocytic cell line HL-60.一种具有与β-N-乙酰己糖胺酶S相似性质的酶在早幼粒细胞系HL-60中表达。
Biochem J. 1990 Apr 1;267(1):111-7. doi: 10.1042/bj2670111.
6
Treatment of HL-60 cells with dimethyl sulphoxide inhibits the formation of beta-N-acetylhexosaminidase S.用二甲基亚砜处理HL-60细胞可抑制β-N-乙酰己糖胺酶S的形成。
Biochem J. 1990 Nov 15;272(1):211-5. doi: 10.1042/bj2720211.
7
Pregnancy modulates the expression of beta-N-acetylhexosaminidase in rat serum and tissues.妊娠可调节大鼠血清和组织中β-N-乙酰己糖胺酶的表达。
Int J Biochem. 1992 Oct;24(10):1599-605. doi: 10.1016/0020-711x(92)90176-2.
8
The mode of action of 4-methylumbelliferyl beta-D-xyloside on the synthesis of chondroitin sulphate in embryonic-chicken sternum.4-甲基伞形酮基-β-D-木糖苷对鸡胚胸骨硫酸软骨素合成的作用方式
Biochem J. 1977 Oct 15;168(1):65-79. doi: 10.1042/bj1680065.
9
beta-N-acetylhexosaminidases in the spleen of a patient with hairy-cell leukaemia.毛细胞白血病患者脾脏中的β-N-乙酰己糖胺酶
Biochim Biophys Acta. 1990 Mar 1;1037(3):265-73. doi: 10.1016/0167-4838(90)90024-a.
10
Benign HEXA mutations, C739T(R247W) and C745T(R249W), cause beta-hexosaminidase A pseudodeficiency by reducing the alpha-subunit protein levels.良性HEXA突变，即C739T（R247W）和C745T（R249W），通过降低α亚基蛋白水平导致β-己糖胺酶A假性缺乏。
J Biol Chem. 1997 Jun 6;272(23):14975-82. doi: 10.1074/jbc.272.23.14975.
引用本文的文献
1
HexA-Enzyme Coated Polymer Nanoparticles for the Development of a Drug-Delivery System in the Treatment of Sandhoff Lysosomal Storage Disease.用于开发治疗桑德霍夫溶酶体贮积病药物递送系统的己糖胺酶包被聚合物纳米颗粒
J Funct Biomater. 2022 Mar 31;13(2):37. doi: 10.3390/jfb13020037.
2
Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease.溶酶体神经酰胺代谢紊乱：对帕金森病的影响。
J Clin Med. 2020 Feb 21;9(2):594. doi: 10.3390/jcm9020594.
3
Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.一个患有慢性B1型GM2神经节苷脂贮积症变异型的葡萄牙家庭的临床、酶学和分子特征分析
J Med Genet. 1996 Apr;33(4):341-3. doi: 10.1136/jmg.33.4.341.
4
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.一名晚发性婴儿型泰-萨克斯病患者的两个新突变均位于β-己糖胺酶α亚基基因的第1外显子。
J Med Genet. 1993 Feb;30(2):123-8. doi: 10.1136/jmg.30.2.123.
5
Identification of beta-N-acetylhexosaminidase A in mouse tissues with the fluorigenic substrate 4-methylumbelliferyl-beta-N-acetylglucosamine 6-sulphate.用荧光底物4-甲基伞形酮基-β-N-乙酰氨基葡萄糖6-硫酸盐鉴定小鼠组织中的β-N-乙酰己糖胺酶A
Biochem J. 1988 Jun 1;252(2):617-20. doi: 10.1042/bj2520617.
6
Treatment of HL-60 cells with dimethyl sulphoxide inhibits the formation of beta-N-acetylhexosaminidase S.用二甲基亚砜处理HL-60细胞可抑制β-N-乙酰己糖胺酶S的形成。
Biochem J. 1990 Nov 15;272(1):211-5. doi: 10.1042/bj2720211.
7
An enzyme with properties similar to those of beta-N-acetylhexosaminidase S is expressed in the promyelocytic cell line HL-60.一种具有与β-N-乙酰己糖胺酶S相似性质的酶在早幼粒细胞系HL-60中表达。
Biochem J. 1990 Apr 1;267(1):111-7. doi: 10.1042/bj2670111.
8
Biochemical characterization of beta-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant.
J Inherit Metab Dis. 1991;14(5):715-20. doi: 10.1007/BF01799940.
本文引用的文献
1
Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate.泰-萨克斯病的诊断与携带者检测：使用β-N-乙酰氨基葡萄糖-6-硫酸酯和β-N-乙酰半乳糖胺-6-硫酸酯的4-甲基伞形酮基衍生物直接测定己糖胺酶A
Am J Hum Genet. 1985 Jul;37(4):733-40.
2
Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyrano sid e for the diagnosis of GM2 gangliosidoses in leukocytes.4-甲基伞形酮基-6-磺基-2-乙酰氨基-2-脱氧-β-D-吡喃葡萄糖苷在白细胞中诊断GM2神经节苷脂沉积症的效用。
Clin Genet. 1984 Oct;26(4):318-21. doi: 10.1111/j.1399-0004.1984.tb01066.x.
3
Tay-Sachs disease: one-step assay of beta-N-acetylhexosaminidase in serum with a sulphated chromogenic substrate.泰-萨克斯病：使用硫酸化显色底物对血清中β-N-乙酰己糖胺酶进行一步法检测。
Clin Chim Acta. 1983 Oct 14;133(3):253-61. doi: 10.1016/0009-8981(83)90269-3.
4
N-Acetyl-beta-glucosaminidases in human spleen.人脾脏中的N-乙酰-β-氨基葡萄糖苷酶
Biochem J. 1968 Apr;107(3):321-7. doi: 10.1042/bj1070321.
5
Separation and characterisation of N-acetyl- -glucosaminidases A and P from maternal serum.从母体血清中分离和鉴定N-乙酰-β-氨基葡萄糖苷酶A和P
Biochim Biophys Acta. 1972 Jun 22;271(1):154-62. doi: 10.1016/0005-2795(72)90143-2.
6
The lysosomal hexosaminidase isozymes.溶酶体己糖胺酶同工酶。
Isozymes Curr Top Biol Med Res. 1985;12:229-88.
7
Expression of a particular beta-N-acetylglucosaminidase isoenzyme in human haematopoietic leukemic cell-lines.一种特定的β-N-乙酰氨基葡萄糖苷酶同工酶在人造血白血病细胞系中的表达。
Cell Biochem Funct. 1986 Jul;4(3):197-203. doi: 10.1002/cbf.290040306.
8
Occurrence of particular isoenzymes in fresh and cultured leukemia-lymphoma cells. II. Hexosaminidase I isoenzyme.新鲜及培养的白血病-淋巴瘤细胞中特定同工酶的出现。II. 氨基己糖苷酶I同工酶
Cancer. 1986 Jul 15;58(2):245-51. doi: 10.1002/1097-0142(19860715)58:2<245::aid-cncr2820580208>3.0.co;2-4.
9
Zotero 插件