Rojas-Charry L, Calero-Martinez S, Morganti C, Morciano G, Park K, Hagel C, Marciniak SJ, Glatzel M, Pinton P, Sepulveda-Falla D. Susceptibility to cellular stress in PS1 mutant N2a cells is associated with mitochondrial defects and altered calcium homeostasis. Sci Rep. 2020 Apr 15;10(1):6455. PubMed.

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Mutations

  1. PSEN1 E280A (Paisa)