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Ion Channel Mutations: The Complexities of Treatment
Manage episode 430566028 series 3349924
Contenuto fornito da n-Lorem Foundation (Dr. Stan Crooke, Amy Williford, Kim Butler, Andrew Serrano, Jon Magnuson, and Kira Dineen), N-Lorem Foundation (Dr. Stan Crooke, Amy Williford, Kim Butler, Andrew Serrano, Jon Magnuson, and Kira Dineen). Tutti i contenuti dei podcast, inclusi episodi, grafica e descrizioni dei podcast, vengono caricati e forniti direttamente da n-Lorem Foundation (Dr. Stan Crooke, Amy Williford, Kim Butler, Andrew Serrano, Jon Magnuson, and Kira Dineen), N-Lorem Foundation (Dr. Stan Crooke, Amy Williford, Kim Butler, Andrew Serrano, Jon Magnuson, and Kira Dineen) o dal partner della piattaforma podcast. Se ritieni che qualcuno stia utilizzando la tua opera protetta da copyright senza la tua autorizzazione, puoi seguire la procedura descritta qui https://it.player.fm/legal.
Mutations affecting ion channels are the most common cause of 'applications for treatment' submitted to n-Lorem. These channels regulate the passage of essential electrically charged ions, like sodium, potassium, calcium, and chloride, into cells. Alas, ion channels pose a significant challenge in the ASO discovery process, as there is little room for error due to the need for highly allele-selective ASOs to achieve success. Let’s 'dive into the channel' and explore the complexities of treating patients with ion channel mutations.
Recently a report on one of our patients with an ion channel mutation was published in Endpoints News highlighting the power of our technology for these disorders. Check it out by clicking the link below.
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On This Episode We Discuss:
- Defining Ion Channels and Ions
- Health, Homeostasis, and Biological Buffering
- Multiple forms of the same gene
- Multiple Isoforms of Gene Product from the same gene
- Network redundancy
- Ion Channels are different
63 episodi
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