Evaluating the causality of novel sequence variants in the prion protein gene by example

[1]  J. Collinge.  Mammalian prions and their wider relevance in neurodegenerative diseases , 2016, Nature.

[2]  Patrick F. Sullivan,et al.  Quantifying prion disease penetrance using large population control cohorts , 2016, Science Translational Medicine.

[3]  James Y. Zou.  Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[4]  J. Collinge,et al.  Transmission Properties of Human PrP 102L Prions Challenge the Relevance of Mouse Models of GSS , 2015, PLoS pathogens.

[5]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[6]  S. Mead,et al.  A new prion disease: relationship with central and peripheral amyloidoses , 2015, Nature Reviews Neurology.

[7]  J. Shendure,et al.  A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.

[8]  A. Forbes,et al.  A novel prion disease associated with diarrhea and autonomic neuropathy. , 2013, The New England journal of medicine.

[9]  J. Plavec,et al.  NMR structural studies of human cellular prion proteins. , 2013, Current topics in medicinal chemistry.

[10]  J. Collinge,et al.  Filamentous white matter prion protein deposition is a distinctive feature of multiple inherited prion diseases , 2013, Acta neuropathologica communications.

[11]  I. Adzhubei,et al.  Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2 , 2013, Current protocols in human genetics.

[12]  J. Collinge,et al.  Review: Contribution of transgenic models to understanding human prion disease , 2010, Neuropathology and applied neurobiology.

[13]  J. Collinge,et al.  Molecular pathology of human prion disease , 2010, Acta Neuropathologica.

[14]  J. Collinge,et al.  PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit , 2010, Human mutation.

[15]  C. Begue,et al.  Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease , 2009, Brain : a journal of neurology.

[16]  J. Hauw,et al.  Inter‐Laboratory Assessment of PrPSc Typing in Creutzfeldt–Jakob Disease: A Western Blot Study within the NeuroPrion Consortium , 2009, Brain pathology.

[17]  John Collinge,et al.  Folding kinetics of the human prion protein probed by temperature jump , 2009, Proceedings of the National Academy of Sciences.

[18]  J. Collinge,et al.  Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteins , 2009, The Journal of general virology.

[19]  J. Collinge,et al.  Crystal structure of human prion protein bound to a therapeutic antibody , 2009, Proceedings of the National Academy of Sciences.

[20]  John Collinge,et al.  A General Model of Prion Strains and Their Pathogenicity , 2007, Science.

[21]  H. Budka,et al.  Phenotypic heterogeneity in inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and mutant prion protein. , 2006, Brain : a journal of neurology.

[22]  S. Mead,et al.  Prion disease genetics , 2006, European Journal of Human Genetics.

[23]  J. Collinge,et al.  Distinct glycoform ratios of protease resistant prion protein associated with PRNP point mutations. , 2006, Brain : a journal of neurology.

[24]  J. Collinge,et al.  Human Prion Protein with Valine 129 Prevents Expression of Variant CJD Phenotype , 2004, Science.

[25]  H. Budka,et al.  Molecular classification of sporadic Creutzfeldt-Jakob disease. , 2003, Brain : a journal of neurology.

[26]  J. Collinge,et al.  Tissue distribution of protease resistant prion protein in variant Creutzfeldt-Jakob disease using a highly sensitive immunoblotting assay , 2001, The Lancet.

[27]  John Collinge,et al.  Variant Creutzfeldt-Jakob disease , 1999, The Lancet.

[28]  R. Glockshuber,et al.  Influence of amino acid substitutions related to inherited human prion diseases on the thermodynamic stability of the cellular prion protein. , 1999, Biochemistry.

[29]  Stanley B. Prusiner,et al.  Nobel Lecture: Prions , 1998 .

[30]  Adam Kiezun,et al.  Exome Aggregation Consortium , 2016 .

[31]  S. Henikoff,et al.  Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.

[32]  J. Collinge,et al.  Molecular diagnosis of human prion disease. , 2008, Methods in molecular biology.

[33]  J. Collinge.  Prion diseases of humans and animals: their causes and molecular basis. , 2001, Annual review of neuroscience.