Cell BiologybioRxivPreprint
Molecular determinants of SEC61A1 mutant R236C in two patient-derived cellular platforms
M. Weiand, V. Sandfort, O. Nadzemova…·A. Zibert
The paper assesses the molecular phenotype of SEC61A1 R236C mutation in two patient-derived cellular models, finding reduced autophagy, cAMP synthesis, and increased calcium leakiness, with similar overall effects across cell types.
DOI 10.1101/2023.12.05.570221