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Article

Functional and structural characterization of a novel malignant hyperthermia-susceptible variant of DHPR-β1a subunit (CACNB1).

American journal of physiology. Cell physiology - 1 Mar 2018

Perez Claudio F, Eltit Jose M, Lopez Jose R, Bodnár Dóra, Dulhunty Angela F, Aditya Shouvik, Casarotto Marco G

Abstract excerpt

Malignant hyperthermia (MH) susceptibility has been recently linked to a novel variant of β1a subunit of the dihydropyridine receptor (DHPR), a channel essential for Ca2+ regulation in skeletal muscle. Here we evaluate the effect of the mutant variant V156A on the structure/function of DHPR β1a subunit and assess its role on Ca2+ metabolism of cultured myotubes. Using differential scanning fluorimetry, we show...

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Source

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Identifiers

PMID: 29212769
DOI: 10.1152/ajpcell.00187.2017
PMCID: PMC6335014

Genes

CACNB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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