Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia"
DOI: 10.1111/epi.17254
Abstract: Sudden unexpected death in epilepsy (SUDEP) is a leading cause of premature death in epilepsy. The underlying pathological mechanisms are likely to be multifactorial. Cardiac arrhythmia has been suggested as a cause of death in… read more here.
Keywords: scn5a; cause; channel function; death ... See more keywords
The role of charged residues in independent glycine receptor folding domains for intermolecular interactions and ion channel function
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurochemistry"
DOI: 10.1111/jnc.14049
Abstract: Glycine receptor (GlyR) truncations in the intracellular TM3‐4 loop, documented in patients suffering from hyperekplexia and in the mouse mutant oscillator, lead to non‐functionality of GlyRs. The missing part that contains the TM3‐4 loop, TM4… read more here.
Keywords: receptor; ion channel; ion; channel function ... See more keywords
Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity
Sign Up to like & getrecommendations! Published in 2025 at "PLOS Genetics"
DOI: 10.1371/journal.pgen.1011828
Abstract: The T-type voltage-gated calcium channel CaV3.3 is expressed in GABAergic neurons of the thalamic reticular nucleus (TRN), where its pacemaking activity controls sleep spindle rhythmogenesis during the non-rapid eye movement (NREM) phase of natural sleep.… read more here.
Keywords: neuronal excitability; neurodevelopmental disorders; function; effects channel ... See more keywords
Phosphatidylinositol-4,5-bisphosphate is required for KCNQ1/KCNE1 channel function but not anterograde trafficking
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DOI: 10.1371/journal.pone.0186293
Abstract: The slow delayed-rectifier potassium current (IKs) is crucial for human cardiac action potential repolarization. The formation of IKs requires co-assembly of the KCNQ1 α-subunit and KCNE1 β-subunit, and mutations in either of these subunits can… read more here.
Keywords: pip2; kcne1 channel; channel; kcnq1 kcne1 ... See more keywords
Cholesterol regulation of mechanosensitive ion channels
Sign Up to like & getrecommendations! Published in 2024 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2024.1352259
Abstract: The purpose of this review is to evaluate the role of cholesterol in regulating mechanosensitive ion channels. Ion channels discussed in this review are sensitive to two types of mechanical signals, fluid shear stress and/or… read more here.
Keywords: ion channels; cholesterol regulation; mechanosensitive ion; channel function ... See more keywords
Regulation of Gramicidin Channel Function Solely by Changes in Lipid Intrinsic Curvature
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Physiology"
DOI: 10.3389/fphys.2022.836789
Abstract: Membrane protein function is regulated by the lipid bilayer composition. In many cases the changes in function correlate with changes in the lipid intrinsic curvature (c0), and c0 is considered a determinant of protein function.… read more here.
Keywords: changes lipid; function; head; channel function ... See more keywords
Sedative Properties of Dexmedetomidine Are Mediated Independently from Native Thalamic Hyperpolarization-Activated Cyclic Nucleotide-Gated Channel Function at Clinically Relevant Concentrations
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24010519
Abstract: Dexmedetomidine is a selective α2-adrenoceptor agonist and appears to disinhibit endogenous sleep-promoting pathways, as well as to attenuate noradrenergic excitation. Recent evidence suggests that dexmedetomidine might also directly inhibit hyperpolarization-activated cyclic-nucleotide gated (HCN) channels. We… read more here.
Keywords: channel function; activated cyclic; hyperpolarization activated; cyclic nucleotide ... See more keywords
F1099L-CFTR (c.3297C>G) has Impaired Channel Function and Associates with Mild Disease Phenotypes in Two Pediatric Patients
Sign Up to like & getrecommendations! Published in 2021 at "Life"
DOI: 10.3390/life11020131
Abstract: (1) Background: many rare cystic fibrosis transmembrane conductance regulator (CFTR) mutations remain poorly characterized with regard to functional consequences of the mutation. We present the clinical features of two pediatric cystic fibrosis (CF) subjects who… read more here.
Keywords: two pediatric; impaired channel; f1099l cftr; mutation ... See more keywords
Gain of channel function and modified gating properties in TRPM3 mutants causing intellectual disability and epilepsy
Sign Up to like & getrecommendations! Published in 2020 at "eLife"
DOI: 10.7554/elife.57190
Abstract: Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of disorders characterized by epilepsy with comorbid intellectual disability. Recently, two de novo heterozygous mutations in the gene encoding TRPM3, a calcium permeable ion channel, were… read more here.
Keywords: gain channel; intellectual disability; channel function;
Orai3 and Orai1 mediate CRAC channel function and metabolic reprogramming in B cells
Sign Up to like & getrecommendations! Published in 2023 at "eLife"
DOI: 10.7554/elife.84708
Abstract: The essential role of store-operated Ca2+ entry (SOCE) through Ca2+ release-activated Ca2+ (CRAC) channels in T cells is well established. In contrast, the contribution of individual Orai isoforms to SOCE and their downstream signaling functions… read more here.
Keywords: crac channel; crac; channel function; metabolic reprogramming ... See more keywords