Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy
N Suzuki, A Nishiyama, H Warita, M Aoki - Journal of human genetics, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is an intractable disease that causes respiratory failure
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …
Recent progress of the genetics of amyotrophic lateral sclerosis and challenges of gene therapy
H Wang, LP Guan, M Deng - Frontiers in neuroscience, 2023 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the
degeneration of motor neurons in the brain and spinal cord. The causes of ALS are not fully …
degeneration of motor neurons in the brain and spinal cord. The causes of ALS are not fully …
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
W Van Rheenen, RAA Van Der Spek, MK Bakker… - Nature …, 2021 - nature.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a complex disease that leads to motor neuron death.
Despite heritability estimates of 52%, genome-wide association studies (GWASs) have …
Despite heritability estimates of 52%, genome-wide association studies (GWASs) have …
The complex mechanisms by which neurons die following DNA damage in neurodegenerative diseases
Human cells are exposed to numerous exogenous and endogenous insults every day.
Unlike other molecules, DNA cannot be replaced by resynthesis, hence damage to DNA can …
Unlike other molecules, DNA cannot be replaced by resynthesis, hence damage to DNA can …
DNA damage and repair deficiency in ALS/FTD-associated neurodegeneration: from molecular mechanisms to therapeutic implication
H Wang, M Kodavati, GW Britz… - Frontiers in Molecular …, 2021 - frontiersin.org
Emerging studies reveal that neurodegenerative disorders, including amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD), are commonly linked to DNA damage …
sclerosis (ALS) and frontotemporal dementia (FTD), are commonly linked to DNA damage …
TTC30A and TTC30B redundancy protects IFT complex B integrity and its pivotal role in ciliogenesis
F Hoffmann, S Bolz, K Junger, F Klose, T Schubert… - Genes, 2022 - mdpi.com
Intraflagellar transport (IFT) is a microtubule-based system that supports the assembly and
maintenance of cilia. The dysfunction of IFT leads to ciliopathies of variable severity. Two of …
maintenance of cilia. The dysfunction of IFT leads to ciliopathies of variable severity. Two of …
Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases
M Gregorczyk, G Pastore, I Muñoz… - Life Science …, 2023 - life-science-alliance.org
The NEK1 kinase controls ciliogenesis, mitosis, and DNA repair, and NEK1 mutations cause
human diseases including axial spondylometaphyseal dysplasia and amyotrophic lateral …
human diseases including axial spondylometaphyseal dysplasia and amyotrophic lateral …
ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons
P Zelina, AA de Ruiter, C Kolsteeg… - Acta neuropathologica …, 2024 - Springer
Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease leading to
motor neuron loss. Currently mutations in> 40 genes have been linked to ALS, but the …
motor neuron loss. Currently mutations in> 40 genes have been linked to ALS, but the …
The potential connection between molecular changes and biomarkers related to ALS and the development and regeneration of CNS
D Glavač, M Mladinić, J Ban, GL Mazzone… - International journal of …, 2022 - mdpi.com
Neurodegenerative diseases are one of the greatest medical burdens of the modern age,
being mostly incurable and with limited prognostic and diagnostic tools. Amyotrophic lateral …
being mostly incurable and with limited prognostic and diagnostic tools. Amyotrophic lateral …