Amyotrophic lateral sclerosis

O Hardiman, A Al-Chalabi, A Chio, EM Corr… - Nature reviews Disease …, 2017 - nature.com
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is characterized
by the degeneration of both upper and lower motor neurons, which leads to muscle …

Disruption of RNA metabolism in neurological diseases and emerging therapeutic interventions

JK Nussbacher, R Tabet, GW Yeo, C Lagier-Tourenne - Neuron, 2019 - cell.com
RNA binding proteins are critical to the maintenance of the transcriptome via controlled
regulation of RNA processing and transport. Alterations of these proteins impact multiple …

[HTML][HTML] Elimination of toxic microsatellite repeat expansion RNA by RNA-targeting Cas9

R Batra, DA Nelles, E Pirie, SM Blue, RJ Marina… - Cell, 2017 - cell.com
Microsatellite repeat expansions in DNA produce pathogenic RNA species that cause
dominantly inherited diseases such as myotonic dystrophy type 1 and 2 (DM1/2) …

The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains

EG Conlon, L Lu, A Sharma, T Yamazaki, T Tang… - elife, 2016 - elifesciences.org
An expanded GGGGCC hexanucleotide in C9ORF72 (C9) is the most frequent known cause
of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). It has been …

[HTML][HTML] Identification of therapeutic targets for amyotrophic lateral sclerosis using PandaOmics–an AI-enabled biological target discovery platform

FW Pun, BHM Liu, X Long, HW Leung… - Frontiers in aging …, 2022 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease with ill-defined
pathogenesis, calling for urgent developments of new therapeutic regimens. Herein, we …

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 …

Dysregulated molecular pathways in amyotrophic lateral sclerosis–frontotemporal dementia spectrum disorder

FB Gao, S Almeida, R Lopez‐Gonzalez - The EMBO journal, 2017 - embopress.org
Frontotemporal dementia (FTD), the second most common form of dementia in people under
65 years of age, is characterized by progressive atrophy of the frontal and/or temporal lobes …

A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism

B Swinnen, A Bento-Abreu, TF Gendron… - Acta …, 2018 - Springer
The exact mechanism underlying amyotrophic lateral sclerosis (ALS) and frontotemporal
dementia (FTD) associated with the GGGGCC repeat expansion in C9orf72 is still unclear …

SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

GM Hautbergue, LM Castelli, L Ferraiuolo… - Nature …, 2017 - nature.com
Hexanucleotide repeat expansions in the C9ORF72 gene are the commonest known
genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Expression of …

The genetics of amyotrophic lateral sclerosis: current insights

AA Alsultan, R Waller, PR Heath… - Degenerative neurological …, 2016 - Taylor & Francis
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that results
in loss of the upper and lower motor neurons from motor cortex, brainstem, and spinal cord …