Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency

Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency

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....

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Bibliographic Details
Main Authors: Michelle S. Prew, Christina M. Camara, Thomas Botzanowski, Jamie A. Moroco, Noah B. Bloch, Hannah R. Levy, Hyuk-Soo Seo, Sirano Dhe-Paganon, Gregory H. Bird, Henry D. Herce, Micah A. Gygi, Silvia Escudero, Thomas E. Wales, John R. Engen, Loren D. Walensky
Format: Article
Language:English
Published: Nature Portfolio 2022-06-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-022-31466-2

Internet

https://doi.org/10.1038/s41467-022-31466-2

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