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Patient-derived cells demonstrate that mutated RyR2 calcium leak underlies autism spectrum disorder and inherited arrhythmias

2025-07-28

Abstract excerpt

Catecholaminergic polymorphic ventricular tachycardia (CPVT) and autism spectrum disorder (ASD) are increasingly recognized as comorbid conditions, yet their shared molecular mechanisms remain unclear. This study investigates a novel RyR2-R169P mutation identified in a patient diagnosed with both CPVT and ASD, hypothesizing that this mutation drives calcium (Ca 2+ ) dysregulation in cardiac and neuronal cells. Usi...

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Identifiers and source

Literature Corpus work
5bc99711-d221-5c56-9fe0-fd2980789cbf
DOI
10.1101/2025.07.26.25332119
Open publication

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Patient-derived cells demonstrate that mutated RyR2 calcium leak underlies autism spectrum disorder and inherited arrhythmiasDOI 10.1101/2025.07.26.25332119
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