Results 71 to 80 of about 23,647 (218)

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins [PDF]

, 2014
An expanded GGGGCC repeat in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. A fundamental question is whether toxicity is driven by the repeat RNA itself and/or by dipeptide repeat proteins ...
Cabecinha, M, Clayton, EL, Cleverley, K, Devoy, A, Dols, J, Fisher, EMC, Fratta, P, Grönke, S, Hendrich, O, Isaacs, AM, Mizielinska, S, Moens, T, Niccoli, T, Nicoll, AJ, Norona, FE, Partridge, L, Pickering-Brown, S, Pietrzyk, J, Ridler, CE, Woollacott, IOC   +19 more
core   +1 more source

Natural Killer Subset Changes and Vascular Endothelial Growth Factor‐A Plasma Profile in Progressive Supranuclear Palsy: The NKscape Study

Movement Disorders, EarlyView.
Abstract Background Emerging evidence implicates neuroinflammation in progressive supranuclear palsy (PSP) pathophysiology, with elevated cyto‐chemokines suggesting natural killer (NK) cell involvement. Methods We characterized peripheral NK in PSP (N = 11) versus Parkinson's disease (PD, N = 10) and healthy controls (HC, N = 8) at both ...
Marina Picillo, Cristina Basile, Francesco Montella, Valentina Lopardo, Mariangela Orlando, Roberta Tarallo, Domenico Palumbo, Viola Melone, Maria Francesca Tepedino, Paolo Barone, Annibale Alessandro Puca, Elena Ciaglia   +11 more
wiley   +1 more source

Physiological, behavioral and subjective sadness reactivity in frontotemporal dementia subtypes. [PDF]

, 2019
Frontotemporal dementia (FTD), a neurodegenerative disease broadly characterized by socioemotional impairments, includes three clinical subtypes: behavioral variant FTD (bvFTD), semantic variant primary progressive aphasia (svPPA) and non-fluent variant ...
Brown, Casey L, Casey, James J, Chen, Kuan-Hua, Hua, Alice Y, Levenson, Robert W, Lwi, Sandy J, Miller, Bruce L, Rosen, Howard J   +7 more
core  

The C9ORF72 mutation brings more answers and more questions. [PDF]

, 2013
The clinical, neuropsychiatric and neuroimaging features of patients who carry the important new C9ORF72 mutation are discussed in this special series of Alzheimer's Research & Therapy.
Miller, Bruce L
core   +1 more source

Increased expression of inflammasome signaling genes and proteins in selective brain regions in the intermediate stage of Alzheimer's disease

Brain Pathology, EarlyView.
Neuritic plaques increase in the intermediate stage of Alzheimer's neuropathological change. The intermediate stage of Alzheimer's disease was investigated by transcriptomics and immunohistochemistry. This revealed that inflammasome sensors NLRP1, NLRP3, and AIM2 oligomerize with ASC speck to form the inflammasome complex and initiate the downstream ...
Juan Pablo de Rivero Vaccari, David A. Davis, Andrew P. Sawaya, Susanna P. Garamszegi, Xiaoyan Sun, Ayled Barreda, Helen M. Bramlett, Sakir Humayun Gultekin, W. Dalton Dietrich, Robert W. Keane, Regina T. Vontell   +10 more
wiley   +1 more source

Mutant UBQLN2P497H in motor neurons leads to ALS-like phenotypes and defective autophagy in rats [PDF]

, 2018
Mutations in ubiquilin2 (UBQLN2) have been linked to abnormal protein aggregation in amyotrophic lateral sclerosis (ALS). The mechanisms underlying UBQLN2-related neurodegenerative diseases remain unclear.
Chen, Tianhong, Gao, Limo, Huang, Bo, Huang, Cao, Shi, Xinglong   +4 more
core   +2 more sources

Associations between TMEM106B C‐terminal fragment aggregation, age, and TDP‐43 or tau pathology

Brain Pathology, EarlyView.
TMEM106B C‐terminal fragment (CTF) aggregation represents an age‐associated, common, diffuse phenomenon emerging after midlife with a weak association with TDP‐43 or tau pathology. These findings suggest that TMEM106B fibrillization may define a distinct axis of protein aggregation in the aging human brain. Abstract Transmembrane protein 106B (TMEM106B)
Albert Acewicz, Sylwia Tarka, Michał Grzegorczyk, Radosław Rzepliński, Teresa Wierzba‐Bobrowicz, Tomasz Stępień   +5 more
wiley   +1 more source

Loss of function mutations in the progranulin gene are related to pro-inflammatory cytokine dysregulation in frontotemporal lobar degeneration patients [PDF]

, 2011
The progranulin gene (PGRN) encodes a pleiotropic molecule with anti-inflammatory actions and neuronal protective effects. Accordingly, PGRN-deficient mice have been demonstrated to develop enhanced inflammation and progressive neurodegeneration. Loss of
Paola Bossù, Francesca Salani, Antonella Alberici, Silvana Archetti, Giuseppe Bellelli, Daniela Galimberti, Elio Scarpini, Gianfranco Spalletta, Carlo Caltagirone, Alessandro Padovani, Barbara Borroni   +10 more
core   +1 more source

New perspectives on VEGF signalling in Alzheimer's disease

Brain Pathology, EarlyView.
Emery et al. bring together findings from recent multi‐omic studies, including single‐cell mRNA analysis of human post‐mortem brain tissue, and proteomic analysis of matched CSF and blood samples in large clinical studies. The authors present evidence of the involvement of altered VEGF signalling in vascular and immune dysfunction and neurodegeneration
Cherelle E. G. Emery, Seth Love, J. Scott Miners   +2 more
wiley   +1 more source

Neuropathology of frontotemporal lobar degeneration: A review

Dementia & Neuropsychologia
Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile dementia. Three main clinical variants are widely recognized within the FTLD spectrum: the behavioural variant of frontotemporal dementia (bvFTD), semantic dementia (SD)
Valéria Santoro Bahia, Leonel Tadao Takada, Vincent Deramecourt   +2 more
doaj   +1 more source