Results 91 to 100 of about 14,543 (225)

Experimental Disease-Modifying Agents for Frontotemporal Lobar Degeneration

Journal of Experimental Pharmacology, 2021
Marcello Giunta,1 Eino Solje,2 Fabrizio Gardoni,3 Barbara Borroni,1 Alberto Benussi1 1Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy; 2Institute of Clinical Medicine - Neurology, University of ...
Giunta M, Solje E, Gardoni F, Borroni B, Benussi A   +4 more
doaj  

Proteomic profile of CSF obtained at the time of diagnosis determines amyotrophic lateral sclerosis progression and survival: CXCL7 levels in disease prognosis and survival

Brain Pathology, EarlyView.
Untargeted multiomic profiling of cerebrospinal fluid reveals that proteomic, but not lipidomic, signatures robustly distinguish ALS patients from controls and stratify individuals by survival, highlighting marked molecular differences between short survival and long survival disease.
Sergio Roca‐Pereira, Yaiza López‐Sampere, Pol Mengod‐Soler, Mario Peña‐Fonteboa, Carla Marco, Alejandro Caravaca‐Puchades, Raúl Domínguez, Juan Francisco Vázquez‐Costa, Enrique Santamaría, Joaquín Fernández‐Irigoyen, María J. Colomina, Isabel León Moreno, Antonio Martínez Yélamos, Sergio Martínez Yélamos, Gabriel Santpere, Elia Obis, Manuel Portero‐Otín, Gerard Piñol‐Ripoll, Mónica Povedano, Pol Andrés‐Benito   +19 more
wiley   +1 more source

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons. [PDF]

, 2016
Intronic hexanucleotide expansions in C9ORF72 are common in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, but it is unknown whether loss of function, toxicity by the expanded RNA or dipeptides from non-ATG-initiated translation are ...
Daniel Hornburg, Sendtner, M., Drepper, C., Pamela J Shaw, Rajeeve Sivadasan, Meissner, F., Jablonka, S., Sterneckert, J., Shaw, P., Ince, P., Shaw, P.J., Nicolas Frank, Andreas Hermann, Frank, N., Jared Sterneckert, Hansel, A., Mann, M., Matthias Mann, Sivadasan, R., Anna Hansel, Hermann, A., Xenia Lojewski, Lojewski, X., Hornburg, D., Sibylle Jablonka, Felix Meissner, Carsten Drepper, Michael Sendtner, Paul G Ince, Ince, P.G.   +29 more
core   +1 more source

C9orf72 gene networks in the human brain correlate with cortical thickness in C9-FTD and implicate vulnerable cell types

Frontiers in Neuroscience
IntroductionA hexanucleotide repeat expansion (HRE) intronic to chromosome 9 open reading frame 72 (C9orf72) is recognized as the most common genetic cause of amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and ALS-FTD.
Iris J. Broce, Iris J. Broce, Daniel W. Sirkis, Ryan M. Nillo, Luke W. Bonham, Luke W. Bonham, Suzee E. Lee, Bruce L. Miller, Patricia A. Castruita, Virginia E. Sturm, Virginia E. Sturm, Leo S. Sugrue, Rahul S. Desikan, Jennifer S. Yokoyama, Jennifer S. Yokoyama, Jennifer S. Yokoyama   +15 more
doaj   +1 more source

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

Repeat Expansion inC9ORF72in Alzheimer's Disease [PDF]

New England Journal of Medicine, 2012
A hexanucleotide repeat expansion in the gene C9ORF72 has been implicated in the development of amyotrophic lateral sclerosis and frontotemporal dementia. The variant has also been found in a small percentage of patients with probable late-onset Alzheimer's disease.
Elisa, Majounie, Yevgeniya, Abramzon, Alan E, Renton, Rodney, Perry, Susan S, Bassett, Olga, Pletnikova, Juan C, Troncoso, John, Hardy, Andrew B, Singleton, Bryan J, Traynor   +9 more
openaire   +2 more sources

Stem cell models of C9orf72-linked Frontotemporal Dementia [PDF]

, 2020
The GGGGCC repeat expansion in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (ALS). Expanded repeat-associated toxicity from either RNA foci or dipeptide protein repeats (DPRs) as well as a loss of ...
Preza, Elisavet
core  

Proteostasis of organelles in aging and disease

The FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

PML as a neuroprotective guardian: Leveraging nuclear protein quality control to mitigate neurotoxicity of an ALS‐associated NEK1 variant

The FEBS Journal, EarlyView.
Insoluble protein aggregates are a hallmark of neurodegenerative diseases like amyotrophic lateral sclerosis (ALS). The ubiquitin–proteasome system (UPS) serves as a neuroprotective quality control mechanism that clears aggregates. PML nuclear bodies (NBs) were proposed to serve as hubs for SUMO‐primed ubiquitylation and degradation of misfolded ...
Tabea Stark, Stefan Müller
wiley   +1 more source

Investigations into the cellular function of C9orf72 [PDF]

, 2016
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by degeneration of the upper and lower motor neurons. Cognitive impairment in ALS is common and as such ALS and frontotemporal dementia (FTD) now constitute a spectrum
Webster, Christopher
core