Entry Name Mutation-inactivated OPTN to PINK-Parkin-mediated autophagosome formation
Definition PINK1 -> PRKN -> (CISD1,CISD2,FAF2,FKBP8,TOMM70,HK1) // OPTN*
Expanded 65018 -> 5071 -> (55847,493856,23197,23770,9868,3098) // 10133v1
Class nt06464 Amyotrophic lateral sclerosis
nt06466 Pathways of neurodegeneration
Type Variant
Pathway Disease H00058 Amyotrophic lateral sclerosis (ALS)
Gene 65018 PINK1; PTEN induced kinase 1
5071 PRKN; parkin RBR E3 ubiquitin protein ligase
55847 CISD1; CDGSH iron sulfur domain 1
493856 CISD2; CDGSH iron sulfur domain 2
23197 FAF2; Fas associated factor family member 2
23770 FKBP8; FKBP prolyl isomerase 8
9868 TOMM70; translocase of outer mitochondrial membrane 70
Variant Reference Authors Deng Z, Purtell K, Lachance V, Wold MS, Chen S, Yue Z
Title Autophagy Receptors and Neurodegenerative Diseases.
Journal Reference Authors Menzies FM, Fleming A, Caricasole A, Bento CF, Andrews SP, Ashkenazi A, Fullgrabe J, Jackson A, Jimenez Sanchez M, Karabiyik C, Licitra F, Lopez Ramirez A, Pavel M, Puri C, Renna M, Ricketts T, Schlotawa L, Vicinanza M, Won H, Zhu Y, Skidmore J, Rubinsztein DC
Title Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities.
Journal Reference Authors Moore AS, Holzbaur EL
Title Dynamic recruitment and activation of ALS-associated TBK1 with its target optineurin are required for efficient mitophagy.
Journal Reference Authors Markovinovic A, Cimbro R, Ljutic T, Kriz J, Rogelj B, Munitic I
Title Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms.
Journal LinkDB All DBs
