Results 81 to 90 of about 9,658 (171)

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  

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

Additional file 1: of Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers [PDF]

, 2018
Table S1. Demographic, clinical and pathological diagnosis of cases used in this study; Figure S1. Further characterization of novel monoclonal C9orf72 antibodies; Figure S2.
Chieh-Yu Cheng (699537), Nicolas Charlet-Berguerand (607232), Regina Feederle (166063), Chantal Sellier (607229), R. Pasterkamp (3698353), Johannes Prudlo (673079), Julie Tahraoui-Bories (5594678), Mustapha Oulad-Abdelghani (245556), Ian Mackenzie (5472740), Manuela Neumann (120819), Dieter Edbauer (3640348), Cecile Martinat (70805), Petra Frick (4672636)   +12 more
core   +1 more source

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

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  

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

TOP1MT rs2293925 is an enhancer‐active regulatory SNP that shapes mitochondrial R‐loop dynamics

The FEBS Journal, EarlyView.
This study shows how a common genetic variant of mitochondrial topoisomerase 1 (TOP1MT rs2293925) can influence mitochondrial gene regulation, DNA topology, and formation of noncanonical nucleic acid structures such as R‐loops. By linking this enhancer‐active variant to mitochondrial nucleic acid stress in cellular contexts relevant to amyotrophic ...
Dóra Varga, Zsolt Ráduly, Beáta Boros‐Oláh, Éva Nagy, Zsolt Karányi, László Halász, Bálint László Bálint, György Vámosi, Emese Tóth, Péter Bai, Serena Santangelo, Patrizia Bossolasco, Antonia Ratti, Vincent Géli, Yves Pommier, Lóránt Székvölgyi   +15 more
wiley   +1 more source

SMCR8 negatively regulates AKT and MTORC1 signaling to modulate lysosome biogenesis and tissue homeostasis [PDF]

, 2019
The intronic hexanucleotide expansion in the C9orf72 gene is one of the leading causes of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS), two devastating neurodegenerative diseases. C9orf72 forms a heterodimer with SMCR8
Fenghua Hu (217655), Yungang Lan (6276290), Peter M. Sullivan (6276293)   +2 more
core   +1 more source

Forward genetic screen in Caenorhabditis elegans suggests F57A10.2 and acp-4 as suppressors of C9ORF72 related phenotypes

Frontiers in Molecular Neuroscience, 2016
An abnormally expanded GGGGCC repeat in C9ORF72 is the most frequent causal mutation associated with amyotrophic lateral sclerosis (ALS) frontotemporal lobar degeneration (FTLD).
XIN WANG, XIN WANG, Limin Hao, Taixiang Saur, Katelyn JOYAL, Ying Zhao, Desheng Zhai, Jie Li, Mochtar Pribadi, Giovanni Coppola, Bruce M Cohen, Edgar(Ned) A Buttner   +11 more
doaj   +1 more source

The Flail Limb Syndrome

Muscle &Nerve, Volume 74, Issue 2, Page 281-292, August 2026.
ABSTRACT The flail limb syndrome is primarily a lower motor neuron disorder that initially affects proximal arm muscles (flail arm syndrome—FAS) or distal leg muscles (flail leg syndrome—FLS). Both were recognized early on (1886 for FAS and 1918 for FLS) as somewhat distinct from classic amyotrophic lateral sclerosis (ALS).
Mark B. Bromberg
wiley   +1 more source