Results 101 to 110 of about 8,758 (210)
PUM1 regulates PRNP mRNA via its 3’UTR.
(A) qRT-PCR analysis of U251-MG and GIMEN cell lines upon transfection with PUM1 siRNA in 6-well format. PUM1 mRNA was efficiently downregulated. ΔCt values were normalized to those of β-actin (ACTB).
Peter Heutink (39587) +14 more
core +1 more source
Analysis of PRNP Gene Codon 129 Polymorphism in the Greek Population
Creutzfeldt-Jakob disease (CJD) is a fatal transmissible neurodegenerative prion disease with a rapid progression comprising familial, sporadic, iatrogenic and variant forms. A polymorphism at codon 129 of PRNP gene has been implicated in the development of variant CJD.
Saetta, AA +8 more
openaire +3 more sources
Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis [PDF]
Truncating mutations in PRNP have been associated with heterogeneous phenotypes ranging from chronic diarrhea and neuropathy to dementia, either rapidly or slowly progressive.
Vincenzo Donadio +27 more
core +1 more source
Identification of the Highly Polymorphic Prion Protein Gene (PRNP) in Frogs (Rana dybowskii)
Prion diseases are fatal neurodegenerative diseases that can be transmitted by infectious protein particles, PrPScs, encoded by the endogenous prion protein gene (PRNP).
Chang-Su Han +3 more
doaj +1 more source
Background Prion diseases are zoonotic diseases with a broad infection spectrum among mammalian hosts and are caused by the misfolded prion protein (PrPSc) derived from the normal prion protein (PrPC), which encodes the prion protein gene (PRNP ...
Yong-Chan Kim +2 more
doaj +1 more source
Deficiency of prion protein induces impaired autophagic flux in neurons
Normal cellular prion protein (PrPC) is highly expressed in the central nervous system. The Zürich I Prnp-deficient mouse strain did not show an abnormal phenotype in initial studies, however, in later studies, deficits in exploratory behavior and short-
Hae-Young eShin +6 more
doaj +1 more source
The coast of Kyushu Island on Ariake Sea in Japan is known to be an accumulation area for patients with a proline-to-leucine substitution mutation at residue 102 (P102L) of the human prion protein gene (PRNP), which is associated with Gerstmann-Sträussler-Scheinker disease. We designated this geographical distribution as the "Ariake PRNP P102L variant."
Kohei Suzuyama +6 more
openaire +2 more sources
Susceptibility to prion diseases is largely determined by the sequence of the prion protein gene (PRNP), which encodes the prion protein (PrP). The recent emergence of chronic wasting disease (CWD) in Europe has highlighted the need to investigate PRNP ...
Amy L. Robinson +10 more
doaj +1 more source
Ovine reference materials and assays for prion genetic testing
Background Genetic predisposition to scrapie in sheep is associated with several variations in the peptide sequence of the prion protein gene (PRNP). DNA-based tests for scoring PRNP codons are essential tools for eradicating scrapie and for evaluating ...
Smith Timothy PL +6 more
doaj +1 more source
Milk donor and recipient relationships and PRNP genotypes.
Milk donor and recipient relationships and PRNP genotypes.
Sally A. Madsen-Bouterse (2802844) +4 more
core +1 more source

