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

Autism associated mutations in β2 subunit of voltage-gated calcium channels constitutively activate gene expression.

Cell calcium - 1 Dec 2022

Trus Michael, Servili Evrim, Taieb-Cohen Tsipora, Atlas Daphne

Abstract excerpt

Membrane depolarization triggers gene expression through voltage-gated calcium channels (VGCC) in a process called Excitation-transcription (ET) coupling. Mutations in the channel subunits α11.2, or β2d, are associated with neurodevelopmental disorders such as ASD. Here, we found that two mutations S143F and G113S within the rat Cavβ2a corresponding to autistic related mutations Cavβ2dS197F and Cavβ2dG167S in the...

Read the complete abstract on PubMed

Topics

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

Share to Autistic Disorder
Share to Calcium Channels, L-Type

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Expression

Share to HEK293 Cells

Share to Mutation

Source

Identifiers

PMID: 36427431
DOI: 10.1016/j.ceca.2022.102672

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autism associated mutations in β2 subunit of voltage-gated calcium channels constitutively activate gene expression.PMID 36427431Read ↗

Elevated basal transcription can underlie timothy channel association with autism related disorders.Semantic proximity Read ↗

Patient-derived cells demonstrate that mutated RyR2 calcium leak underlies autism spectrum disorder and inherited arrhythmiasSemantic proximity Read ↗

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

Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibilitySemantic proximity Read ↗

Impaired chromaffin cell excitability and exocytosis in autistic Timothy syndrome TS2‐neo mouse rescued by L‐type calcium channel blockersSemantic proximity Read ↗

β-Subunit of the voltage-gated Ca2+ channel Cav1.2 drives signaling to the nucleus via H-Ras.Semantic proximity Read ↗

A new homozygous CACNB2 mutation has functional relevance and supports a role for calcium channels in autism spectrum disorderSemantic proximity Read ↗

Genetic associations between voltage-gated calcium channels and autism spectrum disorder: a systematic review.Semantic proximity Read ↗

Voltage-gated Calcium Channels and Autism Spectrum Disorders.Semantic proximity Read ↗

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.Semantic proximity Read ↗

Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder.Semantic proximity Read ↗

The CaV1.2 G406R mutation decreases synaptic inhibition and alters L-type Ca2+ channel-dependent LTP at hippocampal synapses in a mouse model of Timothy Syndrome.Semantic proximity Read ↗

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