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 …
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 …
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 …
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
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 …
(ALS) is a C9orf72 G4C2 repeat expansion,. Proposed mechanisms by which the expansion …
Disruption of RNA metabolism in neurological diseases and emerging therapeutic interventions
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 …
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 …
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
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 …
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 …
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 …
autonomous neurodegenerative disease characterized by upper and lower motor neuron …
Development of disease-modifying drugs for frontotemporal dementia spectrum disorders
Frontotemporal dementia (FTD) encompasses a spectrum of clinical syndromes
characterized by progressive executive, behavioural and language dysfunction. The various …
characterized by progressive executive, behavioural and language dysfunction. The various …