SEARCH RESULTS

5533 RESULTS

APP K724M

MUTATIONS APP 25891762 GRCh38/hg38 A T 27264074 GRCh37/hg19 A T Exon 17 Coding Increased Aβ42/Aβ40 ratio and Aβ42 levels in cultured cells.  Unknown, but in one carrier, MRI revealed mild global brain atrophy and enlargement of the ventricles. K724M Alzheimer'

PAPER Álvarez Jerez P, Wild Crea P, Ramos DM, Gustavsson EK, Radefeldt M, Damianov A, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu F, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L, Lin CH, Black DL, Global Parkinson’s Genetics Program (GP2), Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.

Nat Struct Mol Biol. 2024 Dec;31(12):1955-1963. Epub 2024 Dec 12 PubMed.

Current Filters

  • Date Range : Dec 2024 to Mar 2025 x

Remove all filters

Filter By

DATE RANGE
  • All
  • Past 7 Days
  • Past 30 Days
  • Past 90 Days
  • Past 12 Months
    1. From
      To

TYPE
AlzAntibodiesAlzBiomarkerAlzRiskBrain BanksGeneticsAlzGeneHEXMutationsProtocolsResearch ModelsTherapeutics