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Article

Elevated basal transcription can underlie timothy channel association with autism related disorders.

Progress in neurobiology - 1 Aug 2020

Servili Evrim, Trus Michael, Sajman Julia, Sherman Eilon, Atlas Daphne

Abstract excerpt

Timothy syndrome (TS) is a neurodevelopmental disorder caused by mutations in the pore-forming subunit α11.2 of the L-type voltage-gated Ca2+-channel Cav1.2, at positions G406R or G402S. Although both mutations cause cardiac arrhythmias, only Cav1.2G406R is associated with the autism-spectrum-disorder (ASD). We show that transcriptional activation by Cav1.2G406R and Cav1.2G402S is driven by membrane...

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Identifiers

PMID: 32437834
DOI: 10.1016/j.pneurobio.2020.101820

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Elevated basal transcription can underlie timothy channel association with autism related disorders.PMID 32437834Read ↗

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

The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels.Semantic proximity Read ↗

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

Cav1.2 channelopathies causing autism: new hallmarks on Timothy syndromeSemantic proximity Read ↗

CaV1.2 channelopathic mutations evoke diverse pathophysiological mechanisms.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 ↗

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

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.Semantic proximity Read ↗

Ca <sub>V</sub> 1.2 channelopathic mutations evoke diverse pathophysiological mechanismsSemantic proximity Read ↗

Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly.Semantic proximity Read ↗

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.Semantic proximity Read ↗

Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca2+-dependent inactivationSemantic proximity Read ↗

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