Synaptic dysfunction in ALS and FTD: anatomical and molecular changes provide insights into mechanisms of disease

PA Gelon, PA Dutchak, CF Sephton - Frontiers in Molecular …, 2022 - frontiersin.org
Synaptic loss is a pathological feature of all neurodegenerative diseases including
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). ALS is a disease of …

Synaptic dysfunction and plasticity in amyotrophic lateral sclerosis

R Gulino - International Journal of Molecular Sciences, 2023 - mdpi.com
Recent evidence has supported the hypothesis that amyotrophic lateral sclerosis (ALS) is a
multi-step disease, as the onset of symptoms occurs after sequential exposure to a defined …

Macroscale connectome topographical structure reveals the biomechanisms of brain dysfunction in Alzheimer's disease

K Zhao, D Wang, D Wang, P Chen, Y Wei, L Tu… - Science …, 2024 - science.org
The intricate spatial configurations of brain networks offer essential insights into
understanding the specific patterns of brain abnormalities and the underlying biological …

FUS alters circRNA metabolism in human motor neurons carrying the ALS-linked P525L mutation

A Colantoni, D Capauto, V Alfano, E D'Ambra… - International Journal of …, 2023 - mdpi.com
Deregulation of RNA metabolism has emerged as one of the key events leading to the
degeneration of motor neurons (MNs) in Amyotrophic Lateral Sclerosis (ALS) disease …

Cytoplasmic FUS triggers early behavioral alterations linked to cortical neuronal hyperactivity and inhibitory synaptic defects

J Scekic-Zahirovic, I Sanjuan-Ruiz, V Kan… - Nature …, 2021 - nature.com
Gene mutations causing cytoplasmic mislocalization of the RNA-binding protein FUS lead to
severe forms of amyotrophic lateral sclerosis (ALS). Cytoplasmic accumulation of FUS is …

[HTML][HTML] A model of human neural networks reveals NPTX2 pathology in ALS and FTLD

M Hruska-Plochan, VI Wiersma, KM Betz, I Mallona… - Nature, 2024 - nature.com
Human cellular models of neurodegeneration require reproducibility and longevity, which is
necessary for simulating age-dependent diseases. Such systems are particularly needed for …

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 …

Current insights in the molecular genetic pathogenesis of amyotrophic lateral sclerosis

W Zhou, R Xu - Frontiers in Neuroscience, 2023 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disease
that leads to the massive loss of motor neurons in cerebrum, brain stem and spinal cord. It …

Integrative proteomics highlight presynaptic alterations and c-Jun misactivation as convergent pathomechanisms in ALS

A Aly, ZI Laszlo, S Rajkumar, T Demir, N Hindley… - Acta …, 2023 - Springer
Abstract Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease mainly
affecting upper and lower motoneurons. Several functionally heterogeneous genes have …

Lost in local translation: TDP-43 and FUS in axonal/neuromuscular junction maintenance and dysregulation in amyotrophic lateral sclerosis

D Piol, T Robberechts, S Da Cruz - Neuron, 2023 - cell.com
Key early features of amyotrophic lateral sclerosis (ALS) are denervation of neuromuscular
junctions and axonal degeneration. Motor neuron homeostasis relies on local translation …