Folding intermediates are involved in genetic diseases?

Abstract

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.

Statistics

0102030'97'99'01'03'05'07'09'11'13'15'17
Citations per Year

56 Citations

Semantic Scholar estimates that this publication has 56 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Bychkova1995FoldingIA, title={Folding intermediates are involved in genetic diseases?}, author={Valentina E. Bychkova and O. B. Ptitsyn}, journal={FEBS letters}, year={1995}, volume={359 1}, pages={6-8} }