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A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system.

作者信息

Narisawa K, Igarashi Y, Otomo H, Tada K

出版信息

Biochem Biophys Res Commun. 1978 Aug 29;83(4):1360-4. doi: 10.1016/0006-291x(78)91371-2.

DOI:10.1016/0006-291x(78)91371-2
PMID:212064
Abstract
摘要

相似文献

1
A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system.一种可能由6-磷酸葡萄糖转运系统缺陷导致的Ⅰ型糖原贮积病新变体。
Biochem Biophys Res Commun. 1978 Aug 29;83(4):1360-4. doi: 10.1016/0006-291x(78)91371-2.
2
A direct evidence for defect in glucose-6-phosphate transport system in hepatic microsomal membrane of glycogen storage disease type IB.1型糖原贮积病肝微粒体膜中葡萄糖-6-磷酸转运系统缺陷的直接证据。
Biochem Biophys Res Commun. 1984 Mar 15;119(2):593-7. doi: 10.1016/s0006-291x(84)80290-9.
3
Is type 1b glycogenosis related to an anomeric preference for glucose-6-phosphate uptake by hepatic microsomes?1b型糖原贮积病是否与肝微粒体摄取6-磷酸葡萄糖的异头物偏好有关？
Med Hypotheses. 1980 Nov;6(11):1135-9. doi: 10.1016/0306-9877(80)90135-8.
4
A new variant of glycogen storage disease type 1: probably due to a defect in the glucose-6-phosphate transport system.1型糖原贮积病的一种新变异型：可能由于6-磷酸葡萄糖转运系统缺陷所致。
J Inherit Metab Dis. 1980;2(3):45-9. doi: 10.1007/BF01801717.
5
Measurement of glucose 6-phosphate penetration into liver microsomes. Confirmation of substrate transport in the glucose-6-phosphatase system.6-磷酸葡萄糖进入肝微粒体的测定。葡萄糖-6-磷酸酶系统中底物转运的确认。
J Biol Chem. 1977 Dec 10;252(23):8512-8.
6
Identification of the human hepatic microsomal glucose-6-phosphatase enzyme.人肝微粒体葡萄糖-6-磷酸酶的鉴定。
FEBS Lett. 1988 Dec 19;242(1):153-6. doi: 10.1016/0014-5793(88)81005-6.
7
Glucose 6-phosphate and mannose 6-phosphate are equally and more actively hydrolyzed by glucose 6-phosphatase during hysteretic transition within intact microsomal membrane than after detergent treatment.在完整微粒体膜内的滞后转变过程中，相较于去污剂处理后，6-磷酸葡萄糖和6-磷酸甘露糖被葡萄糖6-磷酸酶同等且更活跃地水解。
Arch Biochem Biophys. 1996 Feb 15;326(2):238-42. doi: 10.1006/abbi.1996.0071.
8
Type Ib glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system.I型糖原贮积病是由微粒体葡萄糖-6-磷酸酶系统的葡萄糖-6-磷酸转运酶缺陷引起的。
J Biol Chem. 1980 Sep 25;255(18):8381-4.
9
Evidence for the involvement of a glucose-6-phosphate carrier in microsomal glucose-6-phosphatase activity.6-磷酸葡萄糖载体参与微粒体6-磷酸葡萄糖酶活性的证据。
Eur J Biochem. 1978 Jan 16;82(2):627-34. doi: 10.1111/j.1432-1033.1978.tb12059.x.
10
Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse.1a型糖原贮积病小鼠中葡萄糖-6-磷酸酶依赖性底物转运
Nat Genet. 1996 Jun;13(2):203-9. doi: 10.1038/ng0696-203.

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World J Clin Pediatr. 2025 Sep 9;14(3):103415. doi: 10.5409/wjcp.v14.i3.103415.
2
SLC37A4, gene responsible for glycogen storage disease type 1b, regulates gingival epithelial barrier function via JAM1 expression.SLC37A4 基因是糖原贮积症 1b 型的致病基因，通过调控 JAM1 的表达影响牙龈上皮细胞屏障功能。
Sci Rep. 2024 Oct 22;14(1):24797. doi: 10.1038/s41598-024-75524-9.
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Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.
三种新型 SLC37A4 变异体与 1b 型糖原贮积症：文献综述
J Int Med Res. 2023 Dec;51(12):3000605231216633. doi: 10.1177/03000605231216633.
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Glycogen storage diseases: An update.糖原贮积病：更新。
World J Gastroenterol. 2023 Jul 7;29(25):3932-3963. doi: 10.3748/wjg.v29.i25.3932.
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Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors.用钠-葡萄糖协同转运蛋白2（SGLT2）抑制剂治疗与糖原贮积病1b型（GSD1b）和葡萄糖-6-磷酸酶催化亚基3（G6PC3）缺乏相关的中性粒细胞减少症。
Diagnostics (Basel). 2023 May 19;13(10):1803. doi: 10.3390/diagnostics13101803.
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Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using C-glucose breath test.造血干细胞移植对Ⅰb型糖原贮积病的影响：一项采用¹³C-葡萄糖呼气试验的单病例研究设计
Mol Genet Metab Rep. 2023 Jan 3;34:100955. doi: 10.1016/j.ymgmr.2023.100955. eCollection 2023 Mar.
7
Congenital defects in neutrophil dynamics.先天性中性粒细胞动力学缺陷。
J Immunol Res. 2014;2014:303782. doi: 10.1155/2014/303782. Epub 2014 Aug 5.
8
The glucose-6-phosphatase system.葡萄糖-6-磷酸酶系统。
Biochem J. 2002 Mar 15;362(Pt 3):513-32. doi: 10.1042/0264-6021:3620513.
9
Quantitative analysis of glucose-6-phosphate translocase gene expression in various human tissues and haematopoietic progenitor cells.葡萄糖-6-磷酸转运酶基因在各种人体组织和造血祖细胞中的表达定量分析。
J Inherit Metab Dis. 2000 Sep;23(6):583-92. doi: 10.1023/a:1005677912539.
10
Identification of protein components of the microsomal glucose 6-phosphate transporter by photoaffinity labelling.通过光亲和标记法鉴定微粒体葡萄糖-6-磷酸转运体的蛋白质成分
Biochem J. 1999 May 1;339 ( Pt 3)(Pt 3):629-38.