C9orf72-mediated ALS and FTD: multiple pathways to disease

R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management

A Al-Chalabi, LH Van Den Berg, J Veldink - Nature Reviews Neurology, 2017 - nature.com
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease predominantly affecting
upper and lower motor neurons. The disease leads to relentlessly progressive weakness of …

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

Q Zhu, J Jiang, TF Gendron, M McAlonis-Downes… - Nature …, 2020 - nature.com
Hexanucleotide expansions in C9orf72, which encodes a predicted guanine exchange
factor, are the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and …

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

YJ Zhang, TF Gendron, MTW Ebbert, AD O'Raw… - Nature medicine, 2018 - nature.com
The major genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis
(ALS) is a C9orf72 G4C2 repeat expansion,. Proposed mechanisms by which the expansion …

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 …

Transcriptional elongation control in developmental gene expression, aging, and disease

Y Aoi, A Shilatifard - Molecular cell, 2023 - cell.com
The elongation stage of transcription by RNA polymerase II (RNA Pol II) is central to the
regulation of gene expression in response to developmental and environmental cues in …

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

TF Gendron, J Chew, JN Stankowski… - Science translational …, 2017 - science.org
There is no effective treatment for amyotrophic lateral sclerosis (ALS), a devastating motor
neuron disease. However, discovery of a G4C2 repeat expansion in the C9ORF72 gene as …

The multistep hypothesis of ALS revisited: the role of genetic mutations

A Chiò, L Mazzini, S D'Alfonso, L Corrado, A Canosa… - Neurology, 2018 - AAN Enterprises
Objective Amyotrophic lateral sclerosis (ALS) incidence rates are consistent with the
hypothesis that ALS is a multistep process. We tested the hypothesis that carrying a large …

Nearly 30 years of animal models to study amyotrophic lateral sclerosis: a historical overview and future perspectives

T Bonifacino, RA Zerbo, M Balbi, C Torazza… - International journal of …, 2021 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a fatal, multigenic, multifactorial, and non-cell
autonomous neurodegenerative disease characterized by upper and lower motor neuron …

Development of disease-modifying drugs for frontotemporal dementia spectrum disorders

F Panza, M Lozupone, D Seripa, A Daniele… - Nature Reviews …, 2020 - nature.com
Frontotemporal dementia (FTD) encompasses a spectrum of clinical syndromes
characterized by progressive executive, behavioural and language dysfunction. The various …