KEGG   VARIANT: 5621v1
Entry
5621v1                      Variant                                

Name
PRNP scrapie conformation
Gene
PRNP  prion protein [KO:K05634]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 176640
Variation
infectious origin
Variation
sporadic manifestation
Network
nt06410  Calcium signaling
nt06412  Unfolded protein response (UPR) signaling
nt06415  PI3K signaling
nt06420  Ubiquitin-proteasome system
nt06465  Prion disease
  Element
N01197  Scrapie conformation PrPSc to 26S proteasome-mediated protein degradation
N01198  Scrapie conformation PrPSc to PERK-ATF4 signaling pathway
N01199  Scrapie conformation PrPSc to mGluR5-Ca2+ -apoptotic pathway
N01200  Scrapie conformation PrPSc to transport of calcium
N01201  Scrapie conformation PrPSc to VGCC-Ca2+ -apoptotic pathway
N01203  Scrapie conformation PrPSc to Notch singling pathway
N01205  Scrapie conformation PrPSc to PRNP-PI3K-NOX2 signaling pathway
Reference
  Authors
Chiesa R, Harris DA
  Title
Prion diseases: what is the neurotoxic molecule?
  Journal
Neurobiol Dis 8:743-63 (2001)
DOI:10.1006/nbdi.2001.0433
Reference
  Authors
Collinge J
  Title
Prion diseases of humans and animals: their causes and molecular basis.
  Journal
Annu Rev Neurosci 24:519-50 (2001)
DOI:10.1146/annurev.neuro.24.1.519
Reference
  Authors
Bagyinszky E, Giau VV, Youn YC, An SSA, Kim S
  Title
Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.
  Journal
Neuropsychiatr Dis Treat 14:2067-2085 (2018)
DOI:10.2147/NDT.S165445
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