Voltage-gated sodium channel dysfunctions in neurological disorders

R Barbieri, M Nizzari, I Zanardi, M Pusch, P Gavazzo - Life, 2023 - mdpi.com
The pore-forming subunits (α subunits) of voltage-gated sodium channels (VGSC) are
encoded in humans by a family of nine highly conserved genes. Among them, SCN1A …

Heterogeneity of cellular senescence: cell type-specific and senescence stimulus-dependent epigenetic alterations

KM Kwiatkowska, E Mavrogonatou, A Papadopoulou… - Cells, 2023 - mdpi.com
The aim of the present study was to provide a comprehensive characterization of whole
genome DNA methylation patterns in replicative and ionizing irradiation-or doxorubicin …

Identification of molecular signatures defines the differential proteostasis response in induced spinal and cranial motor neurons

APZP Fiore, S Maity, L Jeffery, D An, J Rendleman… - Cell reports, 2024 - cell.com
Amyotrophic lateral sclerosis damages proteostasis, affecting spinal and upper motor
neurons earlier than a subset of cranial motor neurons. To aid disease understanding, we …

Blockers of Skeletal Muscle Nav1.4 Channels: From Therapy of Myotonic Syndrome to Molecular Determinants of Pharmacological Action and Back

M De Bellis, B Boccanegra, AG Cerchiara… - International Journal of …, 2023 - mdpi.com
The voltage-gated sodium channels represent an important target for drug discovery since a
large number of physiological processes are regulated by these channels. In several …

Methylome analysis of ALS patients and presymptomatic mutation carriers in blood cells

WP Ruf, E Hannon, A Freischmidt, V Grozdanov… - Neurobiology of …, 2022 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a fatal motoneuron disease with a monogenic cause
in approximately 10% of cases. However, familial clustering of disease without inheritance in …