Entry |
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Name |
|
Gene |
APP amyloid beta precursor protein [KO: K04520]
|
Organism |
hsa_var Human gene variants (Homo sapiens)
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Variation |
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Network |
|
Element |
N00996 | Mutation-caused aberrant Abeta to AGE-RAGE signaling pathway |
N00997 | Mutation-caused aberrant Abeta to electron transfer in Complex I |
N00999 | Mutation-caused aberrant Abeta to electron transfer in Complex IV |
N01001 | Mutation-caused aberrant Abeta to mAchR-Ca2+ -apoptotic pathway |
N01002 | Mutation-caused aberrant Abeta to mGluR5-Ca2+ -apoptotic pathway |
N01003 | Mutation-caused aberrant Abeta to transport of calcium |
N01004 | Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway |
N01005 | Mutation-caused aberrant Abeta to crosstalk between extrinsic and intrinsic apoptotic pathways |
N01006 | Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway |
N01014 | Mutation-caused aberrant Abeta to IRE1a-JNK signaling pathway |
N01018 | Mutation-caused aberrant Abeta to anterograde axonal transport |
N01060 | Mutation-caused aberrant Abeta to 26S proteasome-mediated protein degradation |
|
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 |
|
Reference |
|
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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