Title: | Structural and functional characterization of D109H and R69C mutant versions of human alphaB-crystallin: the biochemical pathomechanism underlying cataract and myopathy development |
Journal : | International journal of biological macromolecules |
Authors: | Ghahramani M, Author ; Yousefi R ; Krivandin A ; Muranov K ; Kurganov B ; Akbar Moosavi Movahedi A |
Material Type: | Article |
Publisher: | Netherlands, 10/2019 |
Languages: | English |
Keywords : | alpha-B-cristallin related disease ; CRYAB gene ; disease-causing mutation ; neuromuscular disease ; protein structure |
Keywords: | amyloid fibrils;chaperone function;congenital cataract;human alphaB-crystallin;structure; |
Pubmed / DOI : | Pubmed : 31678106 / DOI : 10.1016/j.ijbiomac.2019.09.239 |
N° Profil MNM : | 2019111 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/31678106 |