ArticleBiophysical journal2008
ARVC-related mutations in divergent region 3 alter functional properties of the cardiac ryanodine receptor.
Article in Biophysical journal, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 29 citations in OpenAlex.
- Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes.Biomolecules · 2024Article
- Advances in Ion Channel, Non-Desmosomal Variants and Autophagic Mechanisms Implicated in Arrhythmogenic Cardiomyopathy.Current issues in molecular biology · 2023Review
- Construction of a risk scoring system using clinical factors andFrontiers in pharmacology · 2023Article
- Rare and potential pathogenic mutations of LMNA and LAMA4 associated with familial arrhythmogenic right ventricular cardiomyopathy/dysplasia with right ventricular heart failure, cerebral thromboembolism and hereditary electrocardiogram abnormality.Orphanet journal of rare diseases · 2022Article
- Role of induced pluripotent stem cells in diagnostic cardiology.World journal of stem cells · 2021Review
- Cell models of arrhythmogenic cardiomyopathy: advances and opportunities.Disease models & mechanisms · 2017Review
- Genetic analysis of hyperemesis gravidarum reveals association with intracellular calcium release channel (RYR2).Molecular and cellular endocrinology · 2017Article
- A new cytoplasmic interaction between junctin and ryanodine receptor Ca2+ release channels.Journal of cell science · 2015Article
- Article
- Genetic testing for inherited cardiac disease.Nature reviews. Cardiology · 2013Review
- Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.Mayo Clinic proceedings · 2012Article
- Mutations with pathogenic potential in proteins located in or at the composite junctions of the intercalated disk connecting mammalian cardiomyocytes: a reference thesaurus for arrhythmogenic cardiomyopathies and for Naxos and Carvajal diseases.Cell and tissue research · 2012Review
- The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.Journal of the American College of Cardiology · 2009Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Two single-nucleotide polymorphisms in the type 2 ryanodine receptor (RyR2) leading to the nonsynonymous amino acid replacements G1885E and G1886S are associated with arrhythmogenic right ventricular cardiomyopathy in patients who are carrying both of the corresponding RyR2 alleles. The functional properties of HEK293 cell lines isogenically expressing RyR2 mutants associated with arrhythmogenic right ventricular cardiomyopathy, RyR2-G1885E, RyR2-G1886S, RyR2-G1886D (mimicking a constitutively phosphorylated Ser(1886)), and the double mutant RyR2-G1885E/G1886S were investigated by analyzing the intracellular Ca(2+) release activity resulting from store-overload-induced calcium release. The substitution of serine for Gly(1886) caused a significant increase in the cellular Ca(2+) oscillation activity compared with RyR2 wild-type-expressing HEK293 cells. It was even more pronounced if glycine 1885 or 1886 was replaced by the acidic amino acids glutamate (G1885E) or aspartate (G1886D). Surprisingly, when both substitutions were introduced in the same RyR2 subunit (RyR2-G1885E/G1886S), the store-overload-induced calcium release activity was nearly completely abolished, although the Ca(2+) loading of the intracellular stores was markedly enhanced, and the channel still displayed substantial Ca(2+) release on stimulation by 5 mM caffeine. These results suggest that the adjacent glycines 1885 and 1886, located in the divergent region 3, are critical for the function and regulation of RyR2.
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