[HTML][HTML] 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 …

[HTML][HTML] Genomic and transcriptomic advances in amyotrophic lateral sclerosis

M Rizzuti, L Sali, V Melzi, S Scarcella… - Ageing Research …, 2023 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder and the most common
motor neuron disease. ALS shows substantial clinical and molecular heterogeneity. In vitro …

[HTML][HTML] Early alterations in structural and functional properties in the neuromuscular junctions of mutant FUS mice

MA Mukhamedyarov, AN Khabibrakhmanov… - International Journal of …, 2023 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is manifested as skeletal muscle denervation, loss of
motor neurons and finally severe respiratory failure. Mutations of RNA-binding protein FUS …

[HTML][HTML] Unsupervised machine learning identifies distinct ALS molecular subtypes in post-mortem motor cortex and blood expression data

H Marriott, R Kabiljo, GP Hunt, AA Khleifat… - Acta neuropathologica …, 2023 - Springer
Amyotrophic lateral sclerosis (ALS) displays considerable clinical and genetic
heterogeneity. Machine learning approaches have previously been utilised for patient …

[HTML][HTML] Neuronal–glial communication perturbations in murine SOD1G93A spinal cord

M MacLean, R López-Díez, C Vasquez… - Communications …, 2022 - nature.com
Amyotrophic lateral sclerosis (ALS) is an incurable disease characterized by proteinaceous
aggregate accumulation and neuroinflammation culminating in rapidly progressive lower …

[HTML][HTML] Subpial delivery of adeno-associated virus 9-synapsin-caveolin-1 (AAV9-SynCav1) preserves motor neuron and neuromuscular junction morphology, motor …

S Wang, T Ichinomiya, P Savchenko, D Wang… - Theranostics, 2022 - ncbi.nlm.nih.gov
Elevating neuroprotective proteins using adeno-associated virus (AAV)-mediated gene
delivery shows great promise in combating devastating neurodegenerative diseases …

[HTML][HTML] Synapsin-caveolin-1 gene therapy preserves neuronal and synaptic morphology and prevents neurodegeneration in a mouse model of AD

S Wang, JS Leem, S Podvin, V Hook… - … Therapy-Methods & …, 2021 - cell.com
Alzheimer's disease (AD) is the most common form of neurodegeneration and cognitive
dysfunction in the elderly. Identifying molecular signals that mitigate and reverse …

Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS

H Marriott, TP Spargo, A Al Khleifat… - Annals of Clinical …, 2024 - Wiley Online Library
Objective Neurofilament heavy‐chain gene (NEFH) variants are associated with multiple
neurodegenerative diseases, however, their relationship with ALS has not been robustly …

Unsupervised machine learning identifies distinct molecular and phenotypic ALS subtypes in post-mortem motor cortex and blood expression data

H Marriott, R Kabiljo, GP Hunt, A Al Khleifat, A Jones… - medRxiv, 2023 - medrxiv.org
Background Amyotrophic lateral sclerosis (ALS) displays considerable clinical, genetic and
molecular heterogeneity. Machine learning approaches have shown potential to disentangle …

Non-coding genome contribution to ALS.

T Moll, C Harvey, E Alhathli, S Gornall… - International Review …, 2024 - europepmc.org
The majority of amyotrophic lateral sclerosis (ALS) is caused by a complex gene-
environment interaction. Despite high estimates of heritability, the genetic basis of disease in …