Cell BiologyScientific ReportsPeer-reviewed
Molecular determinants of SEC61A1 mutant R236C in two patient-derived cellular platforms
Matthias Weiand, Vanessa Sandfort, Oksana Nadzemova…·Andree 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.
4 citations