Neuropathology

admin February 2, 2019

Abstract

Late-onset Alzheimer’s disease (AD) is a complex age-related neurodegenerative disorder that likely involves epigenetic factors. To better understand the epigenetic state associated with AD, we surveyed 420,852 DNA methylation (DNAm) sites from neurotypical controls (N = 49) and late-onset AD patients (N = 24) across four brain regions (hippocampus, entorhinal cortex, dorsolateral prefrontal cortex and cerebellum).… Read More...

Isabella Wimmer, Cornelia Scharler, Tobias Zrzavy, Taro Kadowaki, Verena Mödlagl, Kim Rojc, Anna R. Tröscher, Maja Kitic, Shuichi Ueda, Monika Bradl and Hans Lassmann February 1, 2019

Human inflammatory or neurodegenerative diseases, such as progressive multiple sclerosis (MS), occur on a background of age-related microglia activation and iron accumulation as well as pre-existing neurodegen…

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Hermeto Gerber, Sebastien Mosser, Benjamin Boury-Jamot, Michael Stumpe, Alessandra Piersigilli, Christine Goepfert, Joern Dengjel, Urs Albrecht, Fulvio Magara and Patrick C. Fraering January 31, 2019

The adipocyte plasma membrane-associated protein APMAP is expressed in the brain where it associates with γ-secretase, a protease responsible for the generation of the amyloid-β peptides (Aβ) implicated in the…

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admin January 30, 2019

Abstract

The identification of genes implicated in myopathies is essential for diagnosis and for revealing novel therapeutic targets. Here we characterize a novel subclass of congenital myopathy at the morphological, molecular, and functional level. Through exome sequencing, we identified de novo ACTN2 mutations, a missense and a deletion, in two unrelated patients presenting with progressive early-onset muscle weakness and respiratory involvement.… Read More...

admin January 28, 2019

Abstract

Previously, we reported that intracranial inoculation of brain homogenate from multiple system atrophy (MSA) patient samples produces neurological disease in the transgenic (Tg) mouse model TgM83+/−, which uses the prion protein promoter to express human α-synuclein harboring the A53T mutation found in familial Parkinson’s disease (PD).… Read More...

admin January 20, 2019

Abstract

Microglia nodule formation is a common feature in inflammatory brain diseases mediated by T lymphocytes such as viral and paraneoplastic encephalitis, multiple sclerosis, and Rasmussen encephalitis (RE). However, its role has not been fully understood yet. We hypothesized that, in RE, microglial nodules provide an environment for the initiation of the later dominating T-cell cytotoxicity.… Read More...

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