[HTML][HTML] iPSC-based disease modeling and drug discovery in cardinal neurodegenerative disorders

H Okano, S Morimoto - Cell Stem Cell, 2022 - cell.com
It has been 15 years since the birth of human induced pluripotent stem cell (iPSC)
technology in 2007, and the scope of its application has been expanding. In addition to the …

[HTML][HTML] 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 …

[HTML][HTML] ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function

DM Baron, AR Fenton, S Saez-Atienzar… - Cell reports, 2022 - cell.com
Understanding the pathogenic mechanisms of disease mutations is critical to advancing
treatments. ALS-associated mutations in the gene encoding the microtubule motor KIF5A …

[HTML][HTML] Human motor units in microfluidic devices are impaired by FUS mutations and improved by HDAC6 inhibition

KS Dittlau, EN Krasnow, L Fumagalli, T Vandoorne… - Stem Cell Reports, 2021 - cell.com
Neuromuscular junctions (NMJs) ensure communication between motor neurons (MNs) and
muscle; however, in MN disorders, such as amyotrophic lateral sclerosis (ALS), NMJs …

[HTML][HTML] RNA modifications and RNA metabolism in neurological disease pathogenesis

B Chatterjee, CKJ Shen, P Majumder - International journal of molecular …, 2021 - mdpi.com
The intrinsic cellular heterogeneity and molecular complexity of the mammalian nervous
system relies substantially on the dynamic nature and spatiotemporal patterning of gene …

[HTML][HTML] ALS-related FUS mutations alter axon growth in motoneurons and affect HuD/ELAVL4 and FMRP activity

MG Garone, N Birsa, M Rosito, F Salaris… - Communications …, 2021 - nature.com
Mutations in the RNA-binding protein (RBP) FUS have been genetically associated with the
motoneuron disease amyotrophic lateral sclerosis (ALS). Using both human induced …

[HTML][HTML] Genome editing in iPSC-based neural systems: from disease models to future therapeutic strategies

A McTague, G Rossignoli, A Ferrini, S Barral… - Frontiers in Genome …, 2021 - frontiersin.org
Therapeutic advances for neurological disorders are challenging due to limited accessibility
of the human central nervous system and incomplete understanding of disease …

[HTML][HTML] Modeling neurodegenerative diseases with cerebral organoids and other three-dimensional culture systems: Focus on Alzheimer's disease

L Venkataraman, SR Fair, CA McElroy… - Stem cell reviews and …, 2020 - Springer
Many neurodegenerative diseases (NDs) such as Alzheimer's disease, Parkinson's disease,
frontotemporal dementia, amyotrophic lateral sclerosis and Huntington's disease, are …

[HTML][HTML] Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis

F Krach, EC Wheeler, M Regensburger… - Acta …, 2022 - Springer
Amyotrophic lateral sclerosis (ALS) is a fatal disease characterized by aberrant alternative
splicing (AS). Nuclear loss and cytoplasmic accumulation of the splicing factor TDP-43 in …

[HTML][HTML] Omics approach to axonal dysfunction of motor neurons in amyotrophic lateral sclerosis (ALS)

N Suzuki, T Akiyama, H Warita, M Aoki - Frontiers in Neuroscience, 2020 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is an intractable adult-onset neurodegenerative disease
that leads to the loss of upper and lower motor neurons (MNs). The long axons of MNs …