KEGG   NETWORK: N01135
Entry
N01135                      Network                                

Name
Mutation-caused aberrant SOD1 to intrinsic apoptotic pathway
Definition
SOD1* -| BCL2 -| (BAX,BAK1) -> CYCS -- APAF1 -> CASP9 -> CASP3
  Expanded
6647v1 -| 596 -| (581,578) -> 54205 -- 317 -> 842 -> 836
Class
nt06414 Apoptosis
nt06464 Amyotrophic lateral sclerosis
Type
Variant
Pathway
hsa05014  Amyotrophic lateral sclerosis
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Gene
6647  SOD1; superoxide dismutase 1
596  BCL2; BCL2 apoptosis regulator
581  BAX; BCL2 associated X, apoptosis regulator
578  BAK1; BCL2 antagonist/killer 1
54205  CYCS; cytochrome c, somatic
317  APAF1; apoptotic peptidase activating factor 1
842  CASP9; caspase 9
836  CASP3; caspase 3
Variant
6647v1 (SOD1*)  SOD1 mutation
Reference
  Authors
Pasinelli P, Belford ME, Lennon N, Bacskai BJ, Hyman BT, Trotti D, Brown RH Jr
  Title
Amyotrophic lateral sclerosis-associated SOD1 mutant proteins bind and aggregate with Bcl-2 in spinal cord mitochondria.
  Journal
Neuron 43:19-30 (2004)
DOI:10.1016/j.neuron.2004.06.021
Reference
  Authors
Pasinelli P, Houseweart MK, Brown RH Jr, Cleveland DW
  Title
Caspase-1 and -3 are sequentially activated in motor neuron death in Cu,Zn superoxide dismutase-mediated familial amyotrophic lateral sclerosis.
  Journal
Proc Natl Acad Sci U S A 97:13901-6 (2000)
DOI:10.1073/pnas.240305897
Reference
  Authors
Smith EF, Shaw PJ, De Vos KJ
  Title
The role of mitochondria in amyotrophic lateral sclerosis.
  Journal
Neurosci Lett 710:132933 (2019)
DOI:10.1016/j.neulet.2017.06.052
Reference
  Authors
Lin MT, Beal MF
  Title
Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases.
  Journal
Nature 443:787-95 (2006)
DOI:10.1038/nature05292
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