The MODY-associated TALK-1 L114P mutation causes islet α-cell overactivity and β-cell inactivity resulting in transient neonatal diabetes and glucose dyshomeostasis in adults

A gain-of-function mutation in the TALK-1 K(+) channel (p.L114P) associated with maturity-onset diabetes of the young (MODY) was recently reported in two distinct families. TALK-1 is a key regulator of β-cell electrical activity and glucose-stimulated insulin secretion (GSIS). KCNK16, the gene that...

Descripción completa

Detalles Bibliográficos
Autores principales: Nakhe, Arya Y., Dadi, Prasanna K., Kim, Jinsun, Shrestha, Shristi, Cartailler, Jean-Philippe, Sampson, Leesa, Magnuson, Mark A., Jacobson, David A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10401960/
https://www.ncbi.nlm.nih.gov/pubmed/37546831
http://dx.doi.org/10.1101/2023.06.20.545631

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10401960/
https://www.ncbi.nlm.nih.gov/pubmed/37546831
http://dx.doi.org/10.1101/2023.06.20.545631

Ejemplares similares