Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca2+-dependent inactivation
oleh: Ivy E. Dick, Rosy Joshi-Mukherjee, Wanjun Yang, David T. Yue
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2016-01-01 |
Deskripsi
Timothy Syndrome (TS) is a multisystem disorder caused by two mutations leading to dysfunction of the CaV1.2 channel. Here, Dick et al. uncover a major and mechanistically divergent effect of both mutations on Ca2+/calmodulin-dependent inactivation of CaV1.2 channels, suggesting genetic variant-tailored therapy for TS treatment.