De Jonghe C, Kumar-Singh S, Cruts M, Kleinert R, Vanderstichele H, Vanmechelen EJM, Kroisel P, Van Broeckhoven C. Unusual Aβ amyloid deposition in Alzheimer's disease due tu an APP T714I mutation at the γ42-secretase site. Neurobiology of Aging 21 Supp1: S200, 2000

Mutations

APP: (Thr714Ile, Austrian APP)

ID: 98

Kumar-Singh S, De Jonghe C, Cruts M, Kleinert R, Wang R, Mercken M, De Strooper B, Vanderstichele H, Lofgren A, Vanderhoeven I, Backhovens H, Vanmechelen E, Kroisel PM, Van Broeckhoven C. Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated abeta(42) in Alzheimer's disease. Human Molecular Genetics 9: 2589-2598, 2000 (PubMed ID: 11063718)

Mutations

APP: (Thr714Ile, Austrian APP)

ID: 106

De Jonghe C, Esselens C, Kumar-Singh S, Craessaerts K, Serneels S, Checler F, Annaert W, Van Broeckhoven C, De Strooper B. Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability. Human Molecular Genetics 10: 1665-1671, 2001 (PubMed ID: 11487570)

Mutations

APP: (Thr714Ile, Austrian APP) (Val715Met; French APP) (Val715Ala; German APP) (Ile716Val; Florida APP) (Val717Ile; London APP) (Val717Leu)

ID: 128

Edwards-Lee T, Ringman JM, Chung J, Werner J, Morgan A, St George Hyslop P, Thompson P, Dutton R, Mlikotic A, Rogaeva E, Hardy J. An African American family with early-onset Alzheimer disease and an APP (T714I) mutation. Neurology 64: 377-379, 2005 (PubMed ID: 15668448)

Mutations

APP: (Thr714Ile, Austrian APP)

ID: 370

Raux G, Guyant-Marechal L, Martin C, Bou J, Penet C, Brice A, Hannequin D, Frebourg T, Campion D. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. Journal of Medical Genetics 42: 793-795, 2005 (PubMed ID: 16033913)

Mutations

APP: (Thr714Ile, Austrian APP) (Val717Ile; London APP)
PSEN1: (Arg35Gln) (Phe105Ile) (Thr116Asn) (Thr116Ile) (Glu120Asp) (Ile143Asn) (Ile143Thr) (Leu153Val) (Phe177Leu) (Gly206Ser) (Gly206Asp) (His214Tyr) (Met233Thr) (Pro264Leu) (Glu280Gly) (Glu318Gly) (Phe386Ser) (Val391Phe) (Leu392Val) (Leu424His)

ID: 376