Browsing Titles index "Journal of biological chemistry"
Now showing items 1-5 of 5
-
Acute insult of ammonia leads to calcium-dependent glutamate release from cultured astrocytes, an effect of pH
(2005)Hyperammonemia is a key factor in the pathogenesis of hepatic encephalopathy (HE) as well as other metabolic encephalopathies, such as those associated with inherited disorders of urea cycle enzymes and in Reye's syndrome. Acute HE results in increased ... -
A CACNA1C variant associated with cardiac arrhythmias provides mechanistic insights in the calmodulation of L-type Ca2+ channels
(Elsevier, 2022)We recently reported the identification of a de novo single nucleotide variant in exon 9 of CACNA1C associated with prolonged repolarization interval. Recombinant expression of the glycine to arginine variant at position 419 produced a gain in the ... -
Functional characterization of CaVα2δ mutations associated with sudden cardiac death
(Elsevier, 2015-01-30)L-type Ca(2+) channels play a critical role in cardiac rhythmicity. These ion channels are oligomeric complexes formed by the pore-forming CaVα1 with the auxiliary CaVβ and CaVα2δ subunits. CaVα2δ increases the peak current density and improves the ... -
Identification of glycosylation sites essential for surface expression of the Caᵥα2δ1 subunit and modulation of the Cardiac Caᵥ1.2 channel activity
(Elsevier, 2016-02-26)Alteration in the L-type current density is one aspect of the electrical remodeling observed in patients suffering from cardiac arrhythmias. Changes in channel function could result from variations in the protein biogenesis, stability, post-translational ... -
IL23R (Interleukin 23 Receptor) variants protective against inflammatory bowel diseases (IBD) display loss of functiondue to impaired protein stability and intracellular trafficking
(Elsevier, 2016)Genome-wide association studies as well as murine models have shown that the interleukin 23 receptor (IL23R) pathway plays a pivotal role in chronic inflammatory diseases such as Crohn disease (CD), ulcerative colitis, psoriasis, and type 1 diabetes. ...