Genetics of amyotrophic lateral sclerosis: A review

S Mathis, C Goizet, A Soulages, JM Vallat… - Journal of the …, 2019 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of the motor pathways,
invariably leading to death within a few years of onset. Most cases of ALS are sporadic, but …

New developments and opportunities in drugs being trialed for amyotrophic lateral sclerosis from 2020 to 2022

JS Jiang, Y Wang, M Deng - Frontiers in pharmacology, 2022 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that
primarily affects motor neurons in the brain and spinal cord. In the recent past, there have …

Human ALS/FTD brain organoid slice cultures display distinct early astrocyte and targetable neuronal pathology

K Szebényi, LMD Wenger, Y Sun, AWE Dunn… - Nature …, 2021 - nature.com
Amyotrophic lateral sclerosis overlapping with frontotemporal dementia (ALS/FTD) is a fatal
and currently untreatable disease characterized by rapid cognitive decline and paralysis …

RNA toxicity in non‐coding repeat expansion disorders

B Swinnen, W Robberecht, L Van Den Bosch - The EMBO journal, 2020 - embopress.org
Several neurodegenerative disorders like amyotrophic lateral sclerosis (ALS) and
spinocerebellar ataxia (SCA) are caused by non‐coding nucleotide repeat expansions …

The pathobiology of TDP-43 C-terminal fragments in ALS and FTLD

BA Berning, AK Walker - Frontiers in neuroscience, 2019 - frontiersin.org
During neurodegenerative disease, the multifunctional RNA-binding protein TDP-43
undergoes a vast array of post-translational modifications, including phosphorylation …

Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

M Boivin, V Pfister, A Gaucherot, F Ruffenach… - The EMBO …, 2020 - embopress.org
Expansion of G4C2 repeats within the C9ORF72 gene is the most common cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Such repeats lead …

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 …

TDP-43 post-translational modifications in health and disease

E Buratti - Expert opinion on therapeutic targets, 2018 - Taylor & Francis
Introduction: Nuclear factor TDP-43 is a ubiquitously expressed RNA binding protein that
plays a key causative role in several neurodegenerative diseases, especially in the …

Poly(GR) and poly(GA) in cerebrospinal fluid as potential biomarkers for C9ORF72-ALS/FTD

G Krishnan, D Raitcheva, D Bartlett… - Nature …, 2022 - nature.com
GGGGCC repeat expansion in C9ORF72, which can be translated in both sense and
antisense directions into five dipeptide repeat (DPR) proteins, including poly (GP), poly …

Disruption of ER‐mitochondria tethering and signalling in C9orf72‐associated amyotrophic lateral sclerosis and frontotemporal dementia

P Gomez‐Suaga, GM Mórotz, A Markovinovic… - Aging …, 2022 - Wiley Online Library
Hexanucleotide repeat expansions in C9orf72 are the most common cause of familial
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The mechanisms by …