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Mutations and polymorphisms in the prion protein gene
Human Mutation, 1993Inherited forms of prion diseases are associated with mutations in the prion protein gene. A common polymorphism at codon 129 is also implicated in the predisposition of individuals to sporadic or iatrogenic forms of the disease. This update lists all the currently published mutations and polymorphisms together with their clinical phenotypes, and ...
M S, Palmer, J, Collinge
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Prion Protein Gene Variation Among Primates
Journal of Molecular Biology, 1995Prion diseases are manifest as genetic, sporadic or infectious neurodegenerative disorders in humans and animals. The prolonged incubation times that accompany the transmission of prions between species are due, at least in part, to differences in prion protein (PrP) sequence.
H M, Schätzl +4 more
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Insertions in the prion protein gene in atypical dementias
Experimental Neurology, 1991A number of mutations have been demonstrated in the open reading frame (ORF) of the prion protein (PrP) gene in patients with familial Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. On the basis of detecting an insertion in the ORF of the PrP gene in a patient originally suspected to be suffering from familial Alzheimer-type dementia, we ...
Frank Owen +10 more
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Developmental expression of prion protein gene in brain
Developmental Biology, 1987Synthesis of the cellular isoform of the prion protein (PrPC) was found to be regulated during development of the hamster brain. PrP poly A(+) RNA was readily detectable 10 days postpartum; after 20 days of age, no change in its level could be detected through 13 months of age. Low levels of PrP poly A(+) RNA were detectable 1 day after birth.
McKinley, Michael P. +4 more
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Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene [PDF]
Brain, 1999 A large English family with autosomal dominant segregation of presenile dementia, ataxia and other neuropsychiatric features is described. Diagnoses of demyelinating disease, Alzheimer's disease, Creutzfeldt-Jakob disease (CJD) and Gerstmann-Sträussler-Scheinker syndrome have been attributed to particular individuals at different times. An Irish family,
T A Campbell, Ironside J W, Collinge J
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Prion protein gene expression in cultured cells
"Protein Engineering, Design and Selection", 1988A single copy gene encodes both the scrapie (PrPSc) and cellular (PrPC) isoforms of the prion protein (PrP). Cultured cell lines were found to express the endogenous PrP mRNA at levels comparable to those observed in the brains of adult rodents; however, these cells were invariably found to express greatly reduced levels of PrP.
M R, Scott +5 more
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Genotyping of the prion protein gene at codon 129
Acta Neuropathologica, 1999Sporadic, iatrogenic and new variant forms of Creutzfeldt-Jakob disease are associated with a predisposition for disease depending on a homozygosity at amino acid residue 129 of the prion protein gene (PRNP). A novel polymerase chain reaction/restriction digestion assay to screen for this polymorphism was developed and proved after comparison with a ...
K, Zimmermann +2 more
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Polymorphisms within the prion (PrP) and prion-like protein (Doppel) genes in AD
Neurology, 2004The authors present a study on the association of PRNP and PRND gene polymorphisms with the occurrence and age at onset of Alzheimer's disease (AD). DNA from 79 Polish patients with probable AD and 107 healthy control subjects was studied. The PRNP codon 129 homozygosity seemed to be associated with the occurrence of AD: In AD patients, the percentage ...
E, Golanska +7 more
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