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Publications
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Kamino K, Orr HT, Payami H, Wijsman EM, Alonso ME, Pulst SM, Anderson L, O'dahl S, Nemens E, White JA, Sadovnick AD, Ball MJ, Kaye J, Warren A, McInnis M, Antonarakis SE, Korenberg JR, Sharma V, Kukull W, Larson E, Heston LL, Martin GM, Bird TD, Schellenberg GD. Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. American Journal of Human Genetics 51: 998-1014, 1992 (PubMed ID: 1415269) |
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APP:
(Glu693Gly; Arctic APP)
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ID: 101 | |
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Nilsberth C, Westlind-Danielsson A, Eckman CB, Forsell C, Axelman K, Luthman J, Younkin SG, NSslund J. The Arctic APP mutation (E693G) causes Alzheimer's disease through a novel mechanism: increased amyloid β protofibril formation and decreased amyloid β levels in plasma and conditioned media. Neurobiology of Aging 21 Supp1: S58, 2000 |
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APP:
(Glu693Gly; Arctic APP)
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ID: 97 | |
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Nilsberth C, Westlind-Danielsson A, Eckman CB, Condron MM, Axelman K, Forsell C, Stenh C, Luthman J, Teplow DB, Younkin SG, Naslund J, Lannfelt L. The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. Nature Neuroscience 4: 887-893, 2001 (PubMed ID: 11528419) |
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APP:
(Glu693Gly; Arctic APP)
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ID: 113 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
Selection:
Publication ID In (97,101,113)
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