Kitago Y, Nagae M, Nakata Z, Yagi-Utsumi M, Takagi-Niidome S, Mihara E, Nogi T, Kato K, Takagi J. Structural basis for amyloidogenic peptide recognition by sorLA. Nat Struct Mol Biol. 2015 Mar;22(3):199-206. Epub 2015 Feb 2 PubMed.

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Mutations

  1. SORL1 V137G
  2. SORL1 V277L
  3. SORL1 Y391C
  4. SORL1 G398C
  5. SORL1 C467Y
  6. SORL1 C473S
  7. SORL1 S474C
  8. SORL1 R480C
  9. SORL1 G511R
  10. SORL1 V520M
  11. SORL1 V615F