ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.

Najmeh AhangariNazanin Gholampour-FarojiMohammad DoostiMajid Ghayour MobarhanSima ShahrokhzadehEhsan Ghayoor KarimianiBahareh Hasani-SabzevarParia Najarzadeh TorbatiAliakbar Haddad-Mashadrizeh

Published in: Molecular genetics & genomic medicine (2023)

Overall, in this study, we present knowledge of the effect of the studied variant on the ECEL1 protein leading to neurodegenerative disorder in humans. This work may hopefully be supplementary to classical molecular dynamics to dissolve the mutational effects of cofactor-dependent protein.

Keyphrases

molecular dynamics
density functional theory
protein protein
healthcare
amino acid
binding protein
small molecule