Structure-based assessment of disease-related mutations in human voltage-gated sodium channels
W Huang, M Liu, SF Yan, N Yan - Protein & cell, 2017 - academic.oup.com
Voltage-gated sodium (Nav) channels are essential for the rapid upstroke of action
potentials and the propagation of electrical signals in nerves and muscles. Defects of Nav …
potentials and the propagation of electrical signals in nerves and muscles. Defects of Nav …
Small‐fiber neuropathy: expanding the clinical pain universe
M Sopacua, JGJ Hoeijmakers… - Journal of the …, 2019 - Wiley Online Library
Small‐fiber neuropathy (SFN) is a disorder of thinly myelinated Aδ and unmyelinated C
fibers. SFN is clinically dominated by neuropathic pain and autonomic complaints, leading to …
fibers. SFN is clinically dominated by neuropathic pain and autonomic complaints, leading to …
[HTML][HTML] Complex oscillatory waves emerging from cortical organoids model early human brain network development
Structural and transcriptional changes during early brain maturation follow fixed
developmental programs defined by genetics. However, whether this is true for functional …
developmental programs defined by genetics. However, whether this is true for functional …
Gene variant effects across sodium channelopathies predict function and guide precision therapy
A Brunklaus, T Feng, T Brünger, E Perez-Palma… - Brain, 2022 - academic.oup.com
Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …
NaV1. 7 as a pain target–from gene to pharmacology
Abstract Na V 1.7, a subtype of the voltage-gated sodium channel family that is highly
expressed in peripheral sensory neurons, remains one of the most promising targets for the …
expressed in peripheral sensory neurons, remains one of the most promising targets for the …
Expression and role of voltage-gated sodium channels in human dorsal root ganglion neurons with special focus on Nav1. 7, species differences, and regulation by …
Voltage-gated sodium channels (Navs) play an important role in human pain sensation.
However, the expression and role of Nav subtypes in native human sensory neurons are …
However, the expression and role of Nav subtypes in native human sensory neurons are …
Hyperexcitability and pharmacological responsiveness of cortical neurons derived from human iPSCs carrying epilepsy-associated sodium channel Nav1. 2-L1342P …
With the wide adoption of genomic sequencing in children having seizures, an increasing
number of SCN2A genetic variants have been revealed as genetic causes of epilepsy …
number of SCN2A genetic variants have been revealed as genetic causes of epilepsy …
Resilience to pain: a peripheral component identified using induced pluripotent stem cells and dynamic clamp
Pain is a complex process that involves both detection in the peripheral nervous system and
perception in the CNS. Individual-to-individual differences in pain are well documented, but …
perception in the CNS. Individual-to-individual differences in pain are well documented, but …
Building sensory axons: Delivery and distribution of NaV1.7 channels and effects of inflammatory mediators
Sodium channel NaV1. 7 controls firing of nociceptors, and its role in human pain has been
validated by genetic and functional studies. However, little is known about NaV1. 7 …
validated by genetic and functional studies. However, little is known about NaV1. 7 …
[HTML][HTML] Compartment-specific regulation of NaV1. 7 in sensory neurons after acute exposure to TNF-α
Tumor necrosis factor α (TNF-α) is a major pro-inflammatory cytokine, important in many
diseases, that sensitizes nociceptors through its action on a variety of ion channels …
diseases, that sensitizes nociceptors through its action on a variety of ion channels …