AMPA receptor neurotransmission and therapeutic applications: A comprehensive review of their multifaceted modulation

M Qneibi, S Bdir, M Bdair, SA Aldwaik… - European Journal of …, 2024 - Elsevier
The neuropharmacological community has shown a strong interest in AMPA receptors as
critical components of excitatory synaptic transmission during the last fifteen years. AMPA …

Current Therapy in Amyotrophic lateral sclerosis (ALS): a review on Past and Future Therapeutic Strategies

Y Wei, S Zhong, H Yang, X Wang, B Lv, Y Bian… - European Journal of …, 2024 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects the first
and second motoneurons (MNs), associated with muscle weakness, paralysis and finally …

Artificial microRNA suppresses C9ORF72 variants and decreases toxic dipeptide repeat proteins in vivo

GT Cabrera, KE Meijboom, A Abdallah, H Tran… - Gene Therapy, 2024 - nature.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects motor
neurons, causing progressive muscle weakness and respiratory failure. The presence of an …

KCNJ2 inhibition mitigates mechanical injury in a human brain organoid model of traumatic brain injury

JD Lai, JE Berlind, G Fricklas, C Lie, JP Urenda, K Lam… - Cell Stem Cell, 2024 - cell.com
Traumatic brain injury (TBI) strongly correlates with neurodegenerative disease. However, it
remains unclear which neurodegenerative mechanisms are intrinsic to the brain and which …

[HTML][HTML] Neuromuscular organoids model spinal neuromuscular pathologies in C9orf72 amyotrophic lateral sclerosis

C Gao, Q Shi, X Pan, J Chen, Y Zhang, J Lang, S Wen… - Cell Reports, 2024 - cell.com
Hexanucleotide repeat expansions in the C9orf72 gene are the most common cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Due to the lack of trunk …

Myeloid and lymphoid expression of C9orf72 regulates IL-17A signaling in mice

F Limone, A Couto, JY Wang, Y Zhang… - Science Translational …, 2024 - science.org
A mutation in C9ORF72 is the most common cause of amyotrophic lateral sclerosis (ALS)
and frontotemporal dementia (FTD). Patients with ALS or FTD often develop autoimmunity …

[HTML][HTML] Validated assays for the quantification of C9orf72 human pathology

SE Salomonsson, AM Maltos, K Gill… - Scientific Reports, 2024 - nature.com
A repeat expansion mutation in the C9orf72 gene is the leading known genetic cause of FTD
and ALS. The C9orf72-ALS/FTD field has been plagued by a lack of reliable tools to monitor …

Reversal of C9orf72 mutation-induced transcriptional dysregulation and pathology in cultured human neurons by allele-specific excision

A Sachdev, K Gill, M Sckaff, AM Birk… - Proceedings of the …, 2024 - National Acad Sciences
Efforts to genetically reverse C9orf72 pathology have been hampered by our incomplete
understanding of the regulation of this complex locus. We generated five different genomic …

[HTML][HTML] Disease related changes in ATAC-seq of iPSC-derived motor neuron lines from ALS patients and controls

S Tsitkov, K Valentine, V Kozareva, A Donde… - Nature …, 2024 - nature.com
Abstract Amyotrophic Lateral Sclerosis (ALS), like many other neurodegenerative diseases,
is highly heritable, but with only a small fraction of cases explained by monogenic disease …

Recapitulating and reversing human brain ribosomopathy defects via the maladaptive integrated stress response

W Zhang, M Zhang, L Ma, S Jariyasakulroj… - Science …, 2024 - science.org
Animal or human models recapitulating brain ribosomopathies are incomplete, hampering
development of urgently needed therapies. Here, we generated genetic mouse and human …