Mishra S, Knupp A, Kinoshita C, Martinez R, Theofilas P, Young JE. Pharmacologic Stabilization of Retromer Rescues Endosomal Pathology Induced by Defects in the Alzheimer's gene SORL1. 2022 Sep 26 10.1101/2022.07.31.502217 (version 2) bioRxiv.

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Mutations

  1. SORL1 Y141C
  2. SORL1 E270K
  3. SORL1 G511R