Entry |
|
Name |
Mutation-caused aberrant Abeta to electron transfer in Complex I
|
Definition |
APP* -> Abeta -> CHRNA7 -> Ca2+ -> CAPN -> CDK5R1 == CDK5 -> MAPT -| CxI -> Q |
Expanded |
351v1 -> (C16515,C16514) -> 1139 -> C00076 -> (823,824) -> 8851 == 1020 -> 4137 -| (4535+4536+4537+4538+4540+4541+4719+4720+4722+4724+4725+4726+374291+4728+4723+4729+4731+4694+4695+4696+4697+4698+4700+4701+4702+4704+4705+4706+126328+55967+51079+4707+4708+4709+4710+4711+4712+4713+4714+4715+4716+54539+4717+4718) -> C00399 |
Class |
|
Type |
Variant
|
Pathway |
|
Disease |
|
Gene |
351 | APP; amyloid beta precursor protein |
1139 | CHRNA7; cholinergic receptor nicotinic alpha 7 subunit |
8851 | CDK5R1; cyclin dependent kinase 5 regulatory subunit 1 |
1020 | CDK5; cyclin dependent kinase 5 |
4137 | MAPT; microtubule associated protein tau |
4535 | ND1; NADH dehydrogenase, subunit 1 (complex I) |
4537 | ND3; NADH dehydrogenase, subunit 3 (complex I) |
4538 | ND4; NADH dehydrogenase, subunit 4 (complex I) |
4540 | ND5; NADH dehydrogenase, subunit 5 (complex I) |
4541 | ND6; NADH dehydrogenase, subunit 6 (complex I) |
4719 | NDUFS1; NADH:ubiquinone oxidoreductase core subunit S1 |
4720 | NDUFS2; NADH:ubiquinone oxidoreductase core subunit S2 |
4722 | NDUFS3; NADH:ubiquinone oxidoreductase core subunit S3 |
4724 | NDUFS4; NADH:ubiquinone oxidoreductase subunit S4 |
4725 | NDUFS5; NADH:ubiquinone oxidoreductase subunit S5 |
4726 | NDUFS6; NADH:ubiquinone oxidoreductase subunit S6 |
374291 | NDUFS7; NADH:ubiquinone oxidoreductase core subunit S7 |
4728 | NDUFS8; NADH:ubiquinone oxidoreductase core subunit S8 |
4723 | NDUFV1; NADH:ubiquinone oxidoreductase core subunit V1 |
4729 | NDUFV2; NADH:ubiquinone oxidoreductase core subunit V2 |
4731 | NDUFV3; NADH:ubiquinone oxidoreductase subunit V3 |
4694 | NDUFA1; NADH:ubiquinone oxidoreductase subunit A1 |
4695 | NDUFA2; NADH:ubiquinone oxidoreductase subunit A2 |
4696 | NDUFA3; NADH:ubiquinone oxidoreductase subunit A3 |
4697 | NDUFA4; NDUFA4 mitochondrial complex associated |
4698 | NDUFA5; NADH:ubiquinone oxidoreductase subunit A5 |
4700 | NDUFA6; NADH:ubiquinone oxidoreductase subunit A6 |
4701 | NDUFA7; NADH:ubiquinone oxidoreductase subunit A7 |
4702 | NDUFA8; NADH:ubiquinone oxidoreductase subunit A8 |
4704 | NDUFA9; NADH:ubiquinone oxidoreductase subunit A9 |
4705 | NDUFA10; NADH:ubiquinone oxidoreductase subunit A10 |
4706 | NDUFAB1; NADH:ubiquinone oxidoreductase subunit AB1 |
126328 | NDUFA11; NADH:ubiquinone oxidoreductase subunit A11 |
55967 | NDUFA12; NADH:ubiquinone oxidoreductase subunit A12 |
51079 | NDUFA13; NADH:ubiquinone oxidoreductase subunit A13 |
4707 | NDUFB1; NADH:ubiquinone oxidoreductase subunit B1 |
4708 | NDUFB2; NADH:ubiquinone oxidoreductase subunit B2 |
4709 | NDUFB3; NADH:ubiquinone oxidoreductase subunit B3 |
4710 | NDUFB4; NADH:ubiquinone oxidoreductase subunit B4 |
4711 | NDUFB5; NADH:ubiquinone oxidoreductase subunit B5 |
4712 | NDUFB6; NADH:ubiquinone oxidoreductase subunit B6 |
4713 | NDUFB7; NADH:ubiquinone oxidoreductase subunit B7 |
4714 | NDUFB8; NADH:ubiquinone oxidoreductase subunit B8 |
4715 | NDUFB9; NADH:ubiquinone oxidoreductase subunit B9 |
4716 | NDUFB10; NADH:ubiquinone oxidoreductase subunit B10 |
54539 | NDUFB11; NADH:ubiquinone oxidoreductase subunit B11 |
4717 | NDUFC1; NADH:ubiquinone oxidoreductase subunit C1 |
4718 | NDUFC2; NADH:ubiquinone oxidoreductase subunit C2 |
|
Variant |
351v1 (APP*) APP mutation
|
Metabolite |
C16515 | Beta-amyloid protein 42 |
C16514 | Beta-amyloid protein 40 |
|
Reference |
|
Authors |
Wasser CR, Herz J |
Title |
Reelin: Neurodevelopmental Architect and Homeostatic Regulator of Excitatory Synapses. |
Journal |
|
Reference |
|
Authors |
Vargas LM, Cerpa W, Munoz FJ, Zanlungo S, Alvarez AR |
Title |
Amyloid-beta oligomers synaptotoxicity: The emerging role of EphA4/c-Abl signaling in Alzheimer's disease. |
Journal |
|
Reference |
|
Authors |
Hauptmann S, Keil U, Scherping I, Bonert A, Eckert A, Muller WE |
Title |
Mitochondrial dysfunction in sporadic and genetic Alzheimer's disease. |
Journal |
|
Reference |
|
Authors |
Golpich M, Amini E, Mohamed Z, Azman Ali R, Mohamed Ibrahim N, Ahmadiani A |
Title |
Mitochondrial Dysfunction and Biogenesis in Neurodegenerative diseases: Pathogenesis and Treatment. |
Journal |
|
Reference |
|
Authors |
Shukla V, Skuntz S, Pant HC |
Title |
Deregulated Cdk5 activity is involved in inducing Alzheimer's disease. |
Journal |
|
LinkDB |
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