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Sustained contractile activity by chronic low-frequency stimulation in rabbit fast-twitch muscle causes a partial (40-50%) inactivation of the sarcoplasmic reticulum (SR) Ca 2+ -ATPase and, with prolonged stimulation, a SERCA1a to SERCA2a transition. To investigate the underlying mechanism of the inactivation which precedes the isoform transition, we analyzed SR from 4-day stimulated...
Mutations in a human cardiac Na + channel gene (SCN5A) are responsible for chromosome 3-linked congenital long QT syndrome (LQT3). Here we characterized a de novo missense mutation (R1623Q, S4 segment of domain 4) identified in an infant Japanese girl with a severe form of LQT3. When expressed in oocytes, mutant Na + channels exhibited only minor abnormalities in channel activation,...
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