Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis

SA Goutman, O Hardiman, A Al-Chalabi… - The Lancet …, 2022 - thelancet.com
Amyotrophic lateral sclerosis is a fatal neurodegenerative disease. The discovery of genes
associated with amyotrophic lateral sclerosis, commencing with SOD1 in 1993, started fairly …

Modelling amyotrophic lateral sclerosis in rodents

TW Todd, L Petrucelli - Nature Reviews Neuroscience, 2022 - nature.com
The efficient study of human disease requires the proper tools, one of the most crucial of
which is an accurate animal model that faithfully recapitulates the human condition. The …

The AAA+ chaperone VCP disaggregates Tau fibrils and generates aggregate seeds in a cellular system

I Saha, P Yuste-Checa, M Da Silva Padilha… - Nature …, 2023 - nature.com
Amyloid-like aggregates of the microtubule-associated protein Tau are associated with
several neurodegenerative disorders including Alzheimer's disease. The existence of …

Recognition of the TDP-43 nuclear localization signal by importin α1/β

SG Doll, H Meshkin, AJ Bryer, F Li, YH Ko… - Cell reports, 2022 - cell.com
Cytoplasmic mislocalization of the TAR-DNA binding protein of 43 kDa (TDP-43) leads to
large, insoluble aggregates that are a hallmark of amyotrophic lateral sclerosis and …

Proximity proteomics of C9orf72 dipeptide repeat proteins identifies molecular chaperones as modifiers of poly-GA aggregation

F Liu, D Morderer, MC Wren… - Acta Neuropathologica …, 2022 - Springer
The most common inherited cause of two genetically and clinico-pathologically overlapping
neurodegenerative diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal …

Emerging perspectives on dipeptide repeat proteins in C9ORF72 ALS/FTD

A Schmitz, J Pinheiro Marques, I Oertig… - Frontiers in cellular …, 2021 - frontiersin.org
The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal
dementia (FTD) is a hexanucleotide expansion in the chromosome 9 open reading frame 72 …

Congenic expression of poly-GA but not poly-PR in mice triggers selective neuron loss and interferon responses found in C9orf72 ALS

KD LaClair, Q Zhou, M Michaelsen, B Wefers… - Acta …, 2020 - Springer
Expansion of a (G 4 C 2) n repeat in C9orf72 causes amyotrophic lateral sclerosis (ALS) and
frontotemporal dementia (FTD), but the link of the five repeat-encoded dipeptide repeat …

Proteostatic imbalance and protein spreading in amyotrophic lateral sclerosis

ME Cicardi, L Marrone, M Azzouz, D Trotti - The EMBO journal, 2021 - embopress.org
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder whose exact
causative mechanisms are still under intense investigation. Several lines of evidence …

PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD

F Pilotto, A Schmitz, N Maharjan, R Diab… - Acta …, 2022 - Springer
ER stress signaling is linked to the pathophysiological and clinical disease manifestations in
amyotrophic lateral sclerosis (ALS). Here, we have investigated ER stress-induced adaptive …

Closest horizons of Hsp70 engagement to manage neurodegeneration

AA Venediktov, OY Bushueva… - Frontiers in Molecular …, 2023 - frontiersin.org
Our review seeks to elucidate the current state-of-the-art in studies of 70-kilodalton-weighed
heat shock proteins (Hsp70) in neurodegenerative diseases (NDs). The family has already …