Entry |
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Name |
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Gene |
APP amyloid beta precursor protein [KO: K04520]
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Organism |
hsa_var Human gene variants (Homo sapiens)
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Variation |
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Network |
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Disease |
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Reference |
|
Authors |
Zhang G, Xie Y, Wang W, Feng X, Jia J |
Title |
Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease. |
Journal |
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Reference |
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Authors |
Finckh U, Kuschel C, Anagnostouli M, Patsouris E, Pantes GV, Gatzonis S, Kapaki E, Davaki P, Lamszus K, Stavrou D, Gal A |
Title |
Novel mutations and repeated findings of mutations in familial Alzheimer disease. |
Journal |
|
Reference |
|
Authors |
Chartier-Harlin MC, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J, et al. |
Title |
Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. |
Journal |
|
Reference |
|
Authors |
Walsh DM, Hartley DM, Condron MM, Selkoe DJ, Teplow DB |
Title |
In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease. |
Journal |
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