Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function – Implications for Potential Therapies
J Striessnig - Frontiers in synaptic neuroscience, 2021 - frontiersin.org
This review summarizes our current knowledge of human disease-relevant genetic variants
within the family of voltage gated Ca2+ channels. Ca2+ channelopathies cover a wide …
within the family of voltage gated Ca2+ channels. Ca2+ channelopathies cover a wide …
De novo CACAN1D Ca2+ channelopathies: clinical phenotypes and molecular mechanism
NJ Ortner, T Kaserer, JN Copeland… - Pflügers Archiv-European …, 2020 - Springer
The identification of rare disease-causing variants in humans by large-scale next-generation
sequencing (NGS) studies has also provided us with new insights into the …
sequencing (NGS) studies has also provided us with new insights into the …
Structural basis for gating pore current in periodic paralysis
Potassium-sensitive hypokalaemic and normokalaemic periodic paralysis are inherited
skeletal muscle diseases characterized by episodes of flaccid muscle weakness,. They are …
skeletal muscle diseases characterized by episodes of flaccid muscle weakness,. They are …
The Dsc ubiquitin ligase complex identifies transmembrane degrons to degrade orphaned proteins at the Golgi
The Golgi apparatus is essential for protein sorting, yet its quality control mechanisms are
poorly understood. Here we show that the Dsc ubiquitin ligase complex uses its rhomboid …
poorly understood. Here we show that the Dsc ubiquitin ligase complex uses its rhomboid …
Anionic omega currents from single countercharge mutants in the voltage-sensing domain of Ci-VSP
The S4 segment of voltage-sensing domains (VSDs) directly responds to voltage changes
by reorienting within the electric field as a permion. A narrow hydrophobic “gasket” or charge …
by reorienting within the electric field as a permion. A narrow hydrophobic “gasket” or charge …
Roles for countercharge in the voltage sensor domain of ion channels
JR Groome, L Bayless-Edwards - Frontiers in Pharmacology, 2020 - frontiersin.org
Voltage-gated ion channels share a common structure typified by peripheral, voltage sensor
domains. Their S4 segments respond to alteration in membrane potential with translocation …
domains. Their S4 segments respond to alteration in membrane potential with translocation …
Advances in L-type calcium channel structures, functions and molecular modeling
L Xu, L Sun, L Xie, S Mou, D Zhang… - Current Medicinal …, 2021 - ingentaconnect.com
L-type Calcium Channels (LTCCs), also termed as Cav1, belong to voltage-gated calcium
channels (VGCCs/Cavs), which play a critical role in a wide spectrum of physiological …
channels (VGCCs/Cavs), which play a critical role in a wide spectrum of physiological …
Gating pore currents occur in CaV1.1 domain III mutants associated with HypoPP
F Wu, M Quinonez, SC Cannon - Journal of General Physiology, 2021 - rupress.org
Mutations in the voltage sensor domain (VSD) of CaV1. 1, the α1S subunit of the L-type
calcium channel in skeletal muscle, are an established cause of hypokalemic periodic …
calcium channel in skeletal muscle, are an established cause of hypokalemic periodic …
Gating defects of disease-causing de novo mutations in Cav1.3 Ca2+ channels
Recently, we and others identified somatic and germline de novo gain-of-function mutations
in CACNA1D, the gene encoding the α1-subunit of voltage-gated Cav1. 3 Ca2+-channels …
in CACNA1D, the gene encoding the α1-subunit of voltage-gated Cav1. 3 Ca2+-channels …
CACNA1D-Related Channelopathies: From Hypertension to Autism
NJ Ortner - … -gated Ca2+ Channels: Pharmacology, Modulation and …, 2023 - Springer
Tightly controlled Ca2+ influx through voltage-gated Ca2+ channels (Cavs) is indispensable
for proper physiological function. Thus, it is not surprising that Cav loss and/or gain of …
for proper physiological function. Thus, it is not surprising that Cav loss and/or gain of …