ASP3291
/ Drais
- LARVOL DELTA
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July 04, 2021
A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response.
(PubMed, J Pers Med)
- "We report a novel RYR2 variant, p.Asp3291Val, outside the four CPVT mutation hotspots, in three CPVT families with numerous sudden deaths...Functional analysis of D3291V channels revealed a normal response to cytosolic Ca, a markedly reduced luminal Ca sensitivity and, more importantly, an absence of normal response to 8-bromo-cAMP and forskolin stimulation in both transfected HEK293 and HL-1 cells. Our data support that the D3291V-RyR2 is a loss-of-function RyR2 variant responsible for an atypical form of CPVT inducing a mild dysfunction in basal conditions but leading potentially to fatal events through its unresponsiveness to adrenergic stimulation."
Journal • Atrial Fibrillation • Cardiovascular • Ventricular Tachycardia
May 12, 2014
A Crossover Study to Evaluate Relative Bioavailability of Two JNJ-54781532 Tablet Formulations in Healthy Adult Participants
(clinicaltrials.gov)
- P1; N=20; Recruiting; Sponsor: Janssen Research & Development, LLC; Not yet recruiting -> Recruiting
Enrollment open • Acute Coronary Syndrome • Biosimilar • Chronic Kidney Disease • Heart Failure • Hepatitis C Virus
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