Associated Papers
Expert commentary: Teaching points from A young patient with spastic paraparesis and ataxia due to P102L GSS.
Ganguly J et al.
Parkinsonism & Related Disorders, 2026
Accumulation Area of a Japanese PRNP P102L Variant Associated With Gerstmann-Sträussler-Scheinker Disease: The Ariake PRNP P102L Variant.
Suzuyama K et al.
Journal of Clinical Neurology (seoul, Korea), 2024
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 2019
Analysis of 12 Chinese Patients with Proline-to-Leucine Mutation at Codon 102-Associated Gerstmann-Sträussler-Scheinker Disease.
Wang J et al.
Journal of Clinical Neurology (seoul, Korea), 2019
Impaired transmissibility of atypical prions from genetic CJDG114V.
Cali I et al.
Neurology. Genetics, 2018
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
Lysosomal Quality Control in Prion Diseases.
Majumder P et al.
Molecular Neurobiology, 2018
Experimental Models of Inherited PrP Prion Diseases.
Watts JC et al.
Cold Spring Harbor Perspectives in Medicine, 2017
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.
Takada LT et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2017
Methods for Molecular Diagnosis of Human Prion Disease.
Wadsworth JDF et al.
Methods in Molecular Biology (clifton, N.j.), 2017
Molecular dynamics study of the dominant-negative E219K polymorphism in human prion protein.
Jahandideh S et al.
Journal of Biomolecular Structure & Dynamics, 2015
Probing early misfolding events in prion protein mutants by NMR spectroscopy.
Giachin G et al.
Molecules (basel, Switzerland), 2013
Report about four novel mutations in the prion protein gene.
Schelzke G et al.
Dementia and Geriatric Cognitive Disorders, 2013
Exploring structural and thermodynamic stabilities of human prion protein pathogenic mutants D202N, E211Q and Q217R.
Guo J et al.
Journal of Structural Biology, 2012
Common structural traits across pathogenic mutants of the human prion protein and their implications for familial prion diseases.
Rossetti G et al.
Journal of Molecular Biology, 2011
Mutation directional selection sheds light on prion pathogenesis.
Shen L et al.
Biochemical and Biophysical Research Communications, 2011
Diverse effects on the native β-sheet of the human prion protein due to disease-associated mutations.
Chen W et al.
Biochemistry, 2010
Conservation of a glycine-rich region in the prion protein is required for uptake of prion infectivity.
Harrison CF et al.
The Journal of Biological Chemistry, 2010
The consequences of pathogenic mutations to the human prion protein.
van der Kamp MW et al.
Protein Engineering, Design & Selection : Peds, 2009
Functional depletion of mahogunin by cytosolically exposed prion protein contributes to neurodegeneration.
Chakrabarti O et al.
Cell, 2009
Familial prion disease with a novel serine to isoleucine mutation at codon 132 of prion protein gene (PRNP).
Hilton DA et al.
Neuropathology and Applied Neurobiology, 2009