Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional Characterization of CaVα2δ Mutations Associated with Sudden Cardiac Death

20 Dec 2014

Abstract excerpt

L-type Ca 2+ channels play a critical role in cardiac rhythmicity. These ion channels are oligomeric complexes formed by the pore-forming Ca V α1 with the auxiliary Ca V β and Ca V α2δ subunits. Ca V α2δ increases the peak current density and improves the voltage-dependent activation gating of Ca V 1.2 channels without increasing the surface expression of the Ca V α1 subunit. The functional impact of genetic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiac electrophysiology and arrhythmias
Share to Ion channel regulation and function
Share to Neuroscience and Neuropharmacology Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25527503
DOI: 10.1074/jbc.m114.597930

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional Characterization of CaVα2δ Mutations Associated with Sudden Cardiac DeathPMID 25527503Read ↗

Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death.Semantic proximity Read ↗

CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and AutismSemantic proximity Read ↗

Molecular heterogeneity of calcium channel beta-subunits in canine and human heart: evidence for differential subcellular localization.Semantic proximity Read ↗

A biallelic mutation in CACNA2D2 associated with developmental and epileptic encephalopathy affects calcium channel-dependent as well as synaptic functions of α2δ-2.Semantic proximity Read ↗

Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function – Implications for Potential TherapiesSemantic proximity Read ↗

Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.Semantic proximity Read ↗

Differential role of the alpha1C subunit tails in regulation of the Cav1.2 channel by membrane potential, beta subunits, and Ca2+ ions.Semantic proximity Read ↗

Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).Semantic proximity Read ↗

The V2475F CPVT1 mutation yields distinct RyR2 channel populations that differ in their responses to cytosolic Ca2+ and Mg2.Semantic proximity Read ↗

Inherited Ventricular Arrhythmias: The Role of the Multi-Subunit Structure of the L-Type Calcium Channel Complex.Semantic proximity Read ↗

What can naturally occurring mutations tell us about Ca(v)1.x channel function?Semantic proximity Read ↗

Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.