Back to Search
Start Over
Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency
- Source :
- Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
- Publication Year :
- 2022
- Publisher :
- Nature Portfolio, 2022.
-
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.
- Subjects :
- Science
Subjects
Details
- Language :
- English
- ISSN :
- 20411723
- Volume :
- 13
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Nature Communications
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.862c131a10741b096477d28809d47d0
- Document Type :
- article
- Full Text :
- https://doi.org/10.1038/s41467-022-31466-2