KEGG   VARIANT: 29110v1
Entry
29110v1                      Variant                               

Name
TBK1 mutation
Gene
TBK1  TANK binding kinase 1 [KO:K05410]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604834
Network
nt06421  Mitophagy
nt06464  Amyotrophic lateral sclerosis
  Element
N01141  Mutation-inactivated TBK1 to TBK1-mediated autophagosome formation
Reference
  Authors
Khalil B, Lievens JC
  Title
Mitochondrial quality control in amyotrophic lateral sclerosis: towards a common pathway?
  Journal
Neural Regen Res 12:1052-1061 (2017)
DOI:10.4103/1673-5374.211179
Reference
  Authors
Pottier C, Bieniek KF, Finch N, van de Vorst M, Baker M, Perkersen R, Brown P, Ravenscroft T, van Blitterswijk M, Nicholson AM, DeTure M, Knopman DS, Josephs KA, Parisi JE, Petersen RC, Boylan KB, Boeve BF, Graff-Radford NR, Veltman JA, Gilissen C, Murray ME, Dickson DW, Rademakers R
  Title
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
  Journal
Acta Neuropathol 130:77-92 (2015)
DOI:10.1007/s00401-015-1436-x

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