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肌营养不良蛋白及相关分子生物学的最新进展。

Recent developments in the biology of dystrophin and related molecules.

作者信息

Karpati G

机构信息

Neuromuscular Research Group, McGill University, Montreal, Quebec, Canada.

出版信息

Curr Opin Neurol Neurosurg. 1992 Oct;5(5):615-21.

PMID:1392135
Abstract

Important progress in the understanding of various aspects of dystrophin biology continued during the past year. This relates to basic biochemistry, isoforms, subcellular localization in skeletal muscle, regional distribution in brain, physiological role, abnormalities caused by gene mutations and nuclear domain characteristics. Major progress has also taken place in the characterization of the dystrophin-associated glycoprotein (DAG) complex and in the understanding of its role in anchoring dystrophin to the plasmalemma and providing a link to the extracellular matrix. Characterization of the human chromosome-6-related analogue of dystrophin led to the discovery that in Duchenne muscular dystrophy (DMD) this molecule is expressed diffusely at the muscle cell surface and could, in part, compensate for the dystrophin deficiency of DMD.

摘要

在过去一年里,对肌营养不良蛋白生物学各个方面的理解取得了重要进展。这涉及基础生物化学、同工型、在骨骼肌中的亚细胞定位、在大脑中的区域分布、生理作用、基因突变引起的异常以及核域特征。在肌营养不良蛋白相关糖蛋白(DAG)复合体的表征以及理解其在将肌营养不良蛋白锚定到质膜并提供与细胞外基质联系方面的作用方面也取得了重大进展。对肌营养不良蛋白的人类6号染色体相关类似物的表征导致发现,在杜兴肌营养不良症(DMD)中,该分子在肌肉细胞表面呈弥漫性表达,并且在一定程度上可以补偿DMD中肌营养不良蛋白的缺乏。

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