Article
A pathogenic mutation in α-SNAP impairs membrane lipid binding by concealing a critical hydrophobic loop.
Communications biology - 22 Jan 2026
Méndez-Ruette Maxs, Bedoya Mauricio, Hinrichsen Bryan, Henzi Roberto, Muñoz-Gutiérrez Camila, Parga Cristián, Muñoz Camilo, Márquez Guillermo, Muñoz Rosa Iris, Sandoval Soledad, Ross Breyan H, Vivar Juan Pablo, Mardones Gonzalo A, Brauchi Sebastián, Wyneken Úrsula, Michaut Marcela Alejandra, González Wendy, Bátiz Luis Federico
Abstract excerpt
The soluble N-ethylmaleimide-sensitive factor attachment protein alpha (α-SNAP) is essential for vesicle trafficking, coordinating trans-SNARE zippering and cis-SNARE disassembly. α-SNAP also regulates autophagy, apoptosis, calcium signaling, and AMPK activity. The hyh missense mutation M105I produces a distinctive neurodevelopmental phenotype, yet its pathogenic mechanism remains unclear. Because many α-SNAP...
Topics
Join the communities discussing this publication.