1b型糖原贮积病：微粒体膜中葡萄糖-6-磷酸转运系统的缺陷（日本人类遗传学会奖获奖演讲） - Suppr | 超能文献

Glycogen storage disease type Ib: a defect in the glucose-6-phosphate transport system in microsomal membrane (The Japan Society of Human Genetics Award lecture).

作者信息

Tada K

出版信息

Jinrui Idengaku Zasshi. 1984 Jun;29(2):77-87. doi: 10.1007/BF01873528.

DOI:10.1007/BF01873528

Abstract

摘要

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Glycogen storage disease type Ib: a defect in the glucose-6-phosphate transport system in microsomal membrane (The Japan Society of Human Genetics Award lecture).1b型糖原贮积病：微粒体膜中葡萄糖-6-磷酸转运系统的缺陷（日本人类遗传学会奖获奖演讲）

Jinrui Idengaku Zasshi. 1984 Jun;29(2):77-87. doi: 10.1007/BF01873528.

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[Glucose-6-phosphate translocase deficiency--glycogen storage disease type 1 b].葡萄糖-6-磷酸转运酶缺乏症——1b型糖原贮积病

Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):813-6.

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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.

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Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.I型糖原贮积病的分子分析：日本患者中常见突变的鉴定及推定的葡萄糖-6-磷酸转运酶基因定位于11号染色体

Biochem Biophys Res Commun. 1998 Jul 20;248(2):426-31. doi: 10.1006/bbrc.1998.8985.

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Glycogen storage disease type IB: a new model of genetic disorders involving the transport system of intracellular membrane.1B型糖原贮积病：一种涉及细胞内膜转运系统的遗传疾病新模型。

Biochem Med. 1985 Apr;33(2):215-22. doi: 10.1016/0006-2944(85)90030-4.

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The signature motif in human glucose-6-phosphate transporter is essential for microsomal transport of glucose-6-phosphate.人类葡萄糖-6-磷酸转运蛋白中的标志性基序对于葡萄糖-6-磷酸的微粒体转运至关重要。

Hum Genet. 2003 Apr;112(4):430-3. doi: 10.1007/s00439-002-0903-3. Epub 2003 Jan 31.

7

Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib.人类微粒体葡萄糖6-磷酸转运体的同源性建模解释了导致I型糖原贮积病的突变。

Biochemistry. 2004 Jul 27;43(29):9289-97. doi: 10.1021/bi049334h.

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

Molecular genetics of type 1 glycogen storage disease.1型糖原贮积病的分子遗传学

Mol Genet Metab. 2001 Jun;73(2):117-25. doi: 10.1006/mgme.2001.3179.

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The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.在几乎所有非a型糖原贮积病I型病例中，假定的葡萄糖6-磷酸转运酶基因都发生了突变。

Eur J Hum Genet. 1999 Sep;7(6):717-23. doi: 10.1038/sj.ejhg.5200366.

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