Gene therapy for ALS: A review
DA Amado, BL Davidson - Molecular Therapy, 2021 - cell.com
Amyotrophic lateral sclerosis (ALS) has historically posed unique challenges for gene-
therapy-based approaches, due to a paucity of therapeutic targets as well as the difficulty of …
therapy-based approaches, due to a paucity of therapeutic targets as well as the difficulty of …
On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability
AN Khristich, SM Mirkin - Journal of Biological Chemistry, 2020 - ASBMB
Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …
majority of which are severe, degenerative, and not currently treatable or preventable. In this …
MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search
N Rappaport, M Twik, I Plaschkes, R Nudel… - Nucleic acids …, 2017 - academic.oup.com
The MalaCards human disease database (http://www. malacards. org/) is an integrated
compendium of annotated diseases mined from 68 data sources. MalaCards has a web card …
compendium of annotated diseases mined from 68 data sources. MalaCards has a web card …
Loss of C9 ORF 72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death
C Sellier, ML Campanari, C Julie Corbier… - The EMBO …, 2016 - embopress.org
An intronic expansion of GGGGCC repeats within the C9 ORF 72 gene is the most common
genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (ALS‐FTD) …
genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (ALS‐FTD) …
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 …
invariably leading to death within a few years of onset. Most cases of ALS are sporadic, but …
Drosophila as an In Vivo Model for Human Neurodegenerative Disease
With the increase in the ageing population, neurodegenerative disease is devastating to
families and poses a huge burden on society. The brain and spinal cord are extraordinarily …
families and poses a huge burden on society. The brain and spinal cord are extraordinarily …
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
The causes of amyotrophic lateral sclerosis (ALS), a devastating human neurodegenerative
disease, are poorly understood, although the protein TDP-43 has been suggested to have a …
disease, are poorly understood, although the protein TDP-43 has been suggested to have a …
The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains
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 …
of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). It has been …
[HTML][HTML] Stress granule mediated protein aggregation and underlying gene defects in the FTD-ALS spectrum
Y Baradaran-Heravi, C Van Broeckhoven… - Neurobiology of …, 2020 - Elsevier
Stress granules (SGs) are dynamic membraneless compartments composed out of RNA-
binding proteins (RBPs) and RNA molecules that assemble temporarily to allow the cell to …
binding proteins (RBPs) and RNA molecules that assemble temporarily to allow the cell to …
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
O Zhuchenko, J Bailey, P Bonnen, T Ashizawa… - Nature …, 1997 - nature.com
A polymorphic CAG repeat was identified in the human α1A voltage-dependent calcium
channel subunit. To test the hypothesis that expansion of this CAG repeat could be the …
channel subunit. To test the hypothesis that expansion of this CAG repeat could be the …