KEGG   VARIANT: 5621v1
Entry
5621v1                      Variant                                
Name
PRNP scrapie conformation
Gene
PRNP  prion protein (Kanno blood group) [KO:K05634]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 176640
Variation
infectious origin
Variation
sporadic manifestation
Network
nt06465  Prion disease
nt06466  Pathways of neurodegeneration
nt06534  Unfolded protein response
Disease
H00061  Prion disease
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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