FOLDING INTERMEDIATES ARE INVOLVED IN GENETIC-DISEASES

被引：66

作者：

BYCHKOVA, VE ^{[1
]}

PTITSYN, OB ^{[1
]}

机构：

[1] NCI,MATH BIOL LAB,BETHESDA,MD 20892

来源：

FEBS LETTERS | 1995年 / 359卷 / 01期

关键词：

PROTEIN FOLDING; GENETIC DISEASE; MOLTEN GLOBULE STATE; MISLOCATION OF PROTEINS;

D O I：

10.1016/0014-5793(95)00004-S

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Recent experimental data show that some human genetic diseases are due to mutations in proteins which influence their trafficking and lead to retaining of proteins in the endoplasmic reticulum or their unproper processing. In this paper a hypothesis is proposed that these mutations are connected with an incomplete protein folding, blocking it at the stage of the kinetic molten globule or even earlier. If so, the specific drugs against these diseases may be ligands and other factors which facilitate the correct protein folding.

引用

页码：6 / 8

页数：3

共 35 条

[31]

STURTEVANT JM, 1989, J BIOL CHEM, V264, P10963

[32]

THOMAS PJ, 1992, J BIOL CHEM, V267, P5727

[33]

VANDERVIES SM, 1991, BIOCHEMISTRY-US, V31, P3635

[34] DELETION IN CYSTEINE-RICH REGION OF LDL RECEPTOR IMPEDES TRANSPORT TO CELL-SURFACE IN WHHL RABBIT [J].