Molecular pathological classification of neurodegenerative diseases: turning towards precision medicine

GG Kovacs - International journal of molecular sciences, 2016 - mdpi.com
Neurodegenerative diseases (NDDs) are characterized by selective dysfunction and loss of
neurons associated with pathologically altered proteins that deposit in the human brain but …

Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases

E Bagyinszky, VV Giau, YC Youn, SSA An… - … disease and treatment, 2018 - Taylor & Francis
Abnormal prion proteins are responsible for several fatal neurodegenerative diseases in
humans and in animals, including Creutzfeldt–Jakob disease (CJD), Gerstmann–Sträussler …

Intracellular processing of disease-associated α-synuclein in the human brain suggests prion-like cell-to-cell spread

GG Kovacs, L Breydo, R Green, V Kis, G Puska… - Neurobiology of …, 2014 - Elsevier
Dementia with Lewy bodies (DLB), Parkinson's disease (PD) and multiple system atrophy
are characterized by the deposition of disease-associated α-synuclein. In the present study …

Phenotypic diversity of genetic Creutzfeldt–Jakob disease: a histo-molecular-based classification

S Baiardi, M Rossi, A Mammana, BS Appleby… - Acta …, 2021 - Springer
The current classification of sporadic Creutzfeldt–Jakob disease (sCJD) includes six major
clinicopathological subtypes defined by the physicochemical properties of the protease …

Genetic Creutzfeldt–Jakob disease

A Ladogana, GG Kovacs - Handbook of Clinical Neurology, 2018 - Elsevier
Abstract Genetic Creutzfeldt–Jakob disease (CJD) is associated with mutations in the
human PrP gene (PRNP) on chromosome 20p12-pter. Pathogenic mutations have been …

Tau pathology in Creutzfeldt‐Jakob disease revisited

GG Kovacs, J Rahimi, T Ströbel, MI Lutz… - Brain …, 2017 - Wiley Online Library
Creutzfeldt‐Jakob disease (CJD) is a human prion disease with different etiologies. To
determine the spectrum of tau pathologies in CJD, we assessed phospho‐Tau (pTau) …

Linking pathways in the developing and aging brain with neurodegeneration

GG Kovacs, H Adle-Biassette, I Milenkovic, S Cipriani… - Neuroscience, 2014 - Elsevier
The molecular and cellular mechanisms, which coordinate the critical stages of brain
development to reach a normal structural organization with appropriate networks, are …

The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients

LP Gao, Q Shi, K Xiao, J Wang, W Zhou, C Chen… - Scientific Reports, 2019 - nature.com
Abstract Genetic Creutzfeldt-Jakob disease (gCJD) with E200K mutation is one of the
common subtypes of human genetic prion diseases worldwide. In this study, we …

Endosomal sorting drives the formation of axonal prion protein endoggresomes

R Chassefeyre, T Chaiamarit, A Verhelle… - Science …, 2021 - science.org
The pathogenic aggregation of misfolded prion protein (PrP) in axons underlies prion
disease pathologies. The molecular mechanisms driving axonal misfolded PrP aggregate …

Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases

MO Kim, I Cali, A Oehler, JC Fong, K Wong… - Acta neuropathologica …, 2013 - Springer
A novel point mutation resulting in a glutamate-to-glycine substitution in PRNP at codon 200,
E200G with codon 129 MV polymorphism (cis valine) and type 2 PrP Sc was identified in a …