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 …

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 …

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 …

Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis

S Zhang, J Cooper-Knock, AK Weimer, M Shi, T Moll… - Neuron, 2022 - cell.com
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 …

The complex mechanisms by which neurons die following DNA damage in neurodegenerative diseases

S Shadfar, M Brocardo, JD Atkin - International journal of molecular …, 2022 - mdpi.com
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 …

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 …

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 …

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 …

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 …

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 …