학술논문
Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency
Document Type
article
Author
Source
Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
Subject
Language
English
ISSN
2041-1723
Abstract
Prew et al. uncovered a structural basis for human VLCAD deficiency that arises from point mutations within the enzyme’s membrane-binding region, which was shown to fold as a putative α-helical hairpin. Helix-breaking mutations selectively disrupt membrane interaction and thus homeostatic function.