KEGG   VARIANT: 9217v1
Entry
9217v1                      Variant                                
Name
VAPB mutation
Gene
VAPB  VAMP associated protein B and C [KO:K10707]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605704
Network
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06534  Unfolded protein response
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
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
Vinay Kumar C, Kumar KM, Swetha R, Ramaiah S, Anbarasu A
  Title
Protein aggregation due to nsSNP resulting in P56S VABP protein is associated with amyotrophic lateral sclerosis.
  Journal
J Theor Biol 354:72-80 (2014)
DOI:10.1016/j.jtbi.2014.03.027
Reference
  Authors
Chen HJ, Anagnostou G, Chai A, Withers J, Morris A, Adhikaree J, Pennetta G, de Belleroche JS
  Title
Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis.
  Journal
J Biol Chem 285:40266-81 (2010)
DOI:10.1074/jbc.M110.161398
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