Filadi R, Greotti E, Turacchio G, Luini A, Pozzan T, Pizzo P. Presenilin 2 Modulates Endoplasmic Reticulum-Mitochondria Coupling by Tuning the Antagonistic Effect of Mitofusin 2. Cell Rep. 2016 Jun 7;15(10):2226-38. Epub 2016 May 26 PubMed.

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Mutations

  1. PSEN2 N141I