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Article

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

The Journal of biological chemistry - 14 Sept 2018

Garza-Lopez Edgar, Lopez Josue A, Hagen Jussara, Sheffer Ruth, Meiner Vardiella, Lee Amy

Abstract excerpt

Voltage-gated Cav Ca2+ channels play crucial roles in regulating gene transcription, neuronal excitability, and synaptic transmission. Natural or pathological variations in Cav channels have yielded rich insights into the molecular determinants controlling channel function. Here, we report the consequences of a natural, putatively disease-associated mutation in the CACNA1D gene encoding the pore-forming Cav1.3 α1...

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Identifiers

PMID: 30054272
DOI: 10.1074/jbc.RA118.003681
PMCID: PMC6139563

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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.

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