伴有维生素E缺乏且磷脂转运蛋白基因突变的共济失调症 - Suppr

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超能文献

Ataxia with vitamin E deficiency with a mutation in a phospholipid transfer protein gene.

作者信息

Kono Satoshi, Otsuji Akiko, Hattori Hiroaki, Shirakawa Kentaro, Suzuki Hitoshi, Miyajima Hiroaki

出版信息

J Neurol. 2009 Jul;256(7):1180-1. doi: 10.1007/s00415-009-5075-9. Epub 2009 Mar 1.

DOI:10.1007/s00415-009-5075-9

PMID:19252769

Abstract

摘要

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Ataxia with vitamin E deficiency with a mutation in a phospholipid transfer protein gene.伴有维生素E缺乏且磷脂转运蛋白基因突变的共济失调症

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本文引用的文献

Absorption, transport, and tissue delivery of vitamin E.维生素E的吸收、转运及组织递送

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Phospholipid transfer protein deficiency impairs apolipoprotein-B secretion from hepatocytes by stimulating a proteolytic pathway through a relative deficiency of vitamin E and an increase in intracellular oxidants.磷脂转运蛋白缺乏通过维生素E相对缺乏和细胞内氧化剂增加刺激蛋白水解途径，损害肝细胞载脂蛋白B的分泌。

J Biol Chem. 2005 May 6;280(18):18336-40. doi: 10.1074/jbc.M500007200. Epub 2005 Feb 25.

Phospholipid transfer protein (PLTP) deficiency reduces brain vitamin E content and increases anxiety in mice.磷脂转运蛋白（PLTP）缺乏会降低小鼠大脑中的维生素E含量，并增加其焦虑感。

FASEB J. 2005 Feb;19(2):296-7. doi: 10.1096/fj.04-2400fje. Epub 2004 Dec 2.

The impact of phospholipid transfer protein (PLTP) on HDL metabolism.磷脂转运蛋白（PLTP）对高密度脂蛋白（HDL）代谢的影响。

Atherosclerosis. 2001 Apr;155(2):269-81. doi: 10.1016/s0021-9150(01)00447-6.

Measurement of human plasma phospholipid transfer protein by sandwich ELISA.采用夹心酶联免疫吸附测定法检测人血浆磷脂转运蛋白

Clin Chem. 2000 Sep;46(9):1357-64.

Uptake of lipoprotein-associated alpha-tocopherol by primary porcine brain capillary endothelial cells.原代猪脑毛细血管内皮细胞对脂蛋白相关α-生育酚的摄取。

J Neurochem. 2000 Apr;74(4):1374-83. doi: 10.1046/j.1471-4159.2000.0741374.x.

Structure and phospholipid transfer activity of human PLTP: analysis by molecular modeling and site-directed mutagenesis.人血浆磷脂转运蛋白的结构与磷脂转运活性：通过分子建模和定点诱变进行分析

J Lipid Res. 1999 Jun;40(6):1123-30.

Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein gene.由α-生育酚转移蛋白基因His101Gln突变引起的伴有色素性视网膜炎的弗里德赖希样共济失调。

Ann Neurol. 1997 Jun;41(6):826-32. doi: 10.1002/ana.410410621.

Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein.α-生育酚转运蛋白基因突变导致的视网膜色素变性和共济失调。

N Engl J Med. 1996 Dec 5;335(23):1770-1. doi: 10.1056/NEJM199612053352315.

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.单纯维生素E缺乏性共济失调由α-生育酚转运蛋白突变引起。

Nat Genet. 1995 Feb;9(2):141-5. doi: 10.1038/ng0295-141.

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