Entry
Name
Mutation-inactivated PINK1 to electron transfer in Complex I
Definition
PINK1* -| CxI -> Q
Expanded
65018v1 -| (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
65018 PINK1; PTEN induced kinase 1
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
Metabolite
Reference
Authors
Franco-Iborra S, Vila M, Perier C
Title
The Parkinson Disease Mitochondrial Hypothesis: Where Are We at?
Journal
Reference
Authors
Bose A, Beal MF
Title
Mitochondrial dysfunction in Parkinson's disease.
Journal
Reference
Authors
Cali T, Ottolini D, Brini M
Title
Mitochondria, calcium, and endoplasmic reticulum stress in Parkinson's disease.
Journal
Reference
Authors
Shim JH, Yoon SH, Kim KH, Han JY, Ha JY, Hyun DH, Paek SH, Kang UJ, Zhuang X, Son JH
Title
The antioxidant Trolox helps recovery from the familial Parkinson's disease-specific mitochondrial deficits caused by PINK1- and DJ-1-deficiency in dopaminergic neuronal cells.
Journal
Reference
Authors
Hoepken HH, Gispert S, Morales B, Wingerter O, Del Turco D, Mulsch A, Nussbaum RL, Muller K, Drose S, Brandt U, Deller T, Wirth B, Kudin AP, Kunz WS, Auburger G
Title
Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6.
Journal
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