KEGG   NETWORK: N01141
Entry
N01141                      Network                                
Name
Mutation-inactivated TBK1 to TBK1-mediated autophagosome formation
Definition
TBK1* // (SQSTM1,OPTN,NDP52,TAX1BP1,NBR1) == LC3-II
  Expanded
29110v1 // (8878,10133,10241,8887,4077) == ((84557,81631,643246,440738)+C00350)
Class
nt06464 Amyotrophic lateral sclerosis
nt06466 Pathways of neurodegeneration
Type
Variant
Pathway
hsa05014  Amyotrophic lateral sclerosis
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Gene
29110  TBK1; TANK binding kinase 1
8878  SQSTM1; sequestosome 1
10133  OPTN; optineurin
10241  CALCOCO2; calcium binding and coiled-coil domain 2
8887  TAX1BP1; Tax1 binding protein 1
4077  NBR1; NBR1 autophagy cargo receptor
84557  MAP1LC3A; microtubule associated protein 1 light chain 3 alpha
81631  MAP1LC3B; microtubule associated protein 1 light chain 3 beta
643246  MAP1LC3B2; microtubule associated protein 1 light chain 3 beta 2
440738  MAP1LC3C; microtubule associated protein 1 light chain 3 gamma
Variant
29110v1 (TBK1*)  TBK1 mutation
Metabolite
C00350  Phosphatidylethanolamine
Reference
PMID:28148298
  Authors
Oakes JA, Davies MC, Collins MO
  Title
TBK1: a new player in ALS linking autophagy and neuroinflammation.
  Journal
Mol Brain 10:5 (2017)
DOI:10.1186/s13041-017-0287-x
Reference
PMID:29626651
  Authors
Nguyen DKH, Thombre R, Wang J
  Title
Autophagy as a common pathway in amyotrophic lateral sclerosis.
  Journal
Neurosci Lett 697:34-48 (2019)
DOI:10.1016/j.neulet.2018.04.006
Reference
PMID:28169082
  Authors
Deng Z, Purtell K, Lachance V, Wold MS, Chen S, Yue Z
  Title
Autophagy Receptors and Neurodegenerative Diseases.
  Journal
Trends Cell Biol 27:491-504 (2017)
DOI:10.1016/j.tcb.2017.01.001
Reference
PMID:25700176
  Authors
Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, Wimbish JR, Waite LL, Jones AL, Carulli JP, Day-Williams AG, Staropoli JF, Xin WW, Chesi A, Raphael AR, McKenna-Yasek D, Cady J, Vianney de Jong JM, Kenna KP, Smith BN, Topp S, Miller J, Gkazi A, Al-Chalabi A, van den Berg LH, Veldink J, Silani V, Ticozzi N, Shaw CE, Baloh RH, Appel S, Simpson E, Lagier-Tourenne C, Pulst SM, Gibson S, Trojanowski JQ, Elman L, McCluskey L, Grossman M, Shneider NA, Chung WK, Ravits JM, Glass JD, Sims KB, Van Deerlin VM, Maniatis T, Hayes SD, Ordureau A, Swarup S, Landers J, Baas F, Allen AS, Bedlack RS, Harper JW, Gitler AD, Rouleau GA, Brown R, Harms MB, Cooper GM, Harris T, Myers RM, Goldstein DB
  Title
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
  Journal
Science 347:1436-41 (2015)
DOI:10.1126/science.aaa3650
Reference
PMID:25803835
  Authors
Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Muller K, Marroquin N, Nordin F, Hubers A, Weydt P, Pinto S, Press R, Millecamps S, Molko N, Bernard E, Desnuelle C, Soriani MH, Dorst J, Graf E, Nordstrom U, Feiler MS, Putz S, Boeckers TM, Meyer T, Winkler AS, Winkelman J, de Carvalho M, Thal DR, Otto M, Brannstrom T, Volk AE, Kursula P, Danzer KM, Lichtner P, Dikic I, Meitinger T, Ludolph AC, Strom TM, Andersen PM, Weishaupt JH
  Title
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.
  Journal
Nat Neurosci 18:631-6 (2015)
DOI:10.1038/nn.4000
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