Molecular determinants of SEC61A1 mutant R236C in two patient-derived cellular platforms
M. Weiand, V. Sandfort, O. Nadzemova, R. Schierwagen, J. Trebicka, I. Kabar, H. Schmidt, 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.
bioRxiv · Dec 5, 2023 · PreprintCell Biology