IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta
Marjo K. Hytönen, Julius Rönkkö, Sruthi Hundi, Tarja Susanna Jokinen, Emilia Suonto, Eeva Teräväinen, Jonas Donner, Rita La Rovere, Geert Bultynck, Emil Ylikallio, Henna Tyynismaa, Hannes Lohi
This paper identifies a homozygous nonsense variant in ITPR3 in Lancashire Heeler dogs causing enamel defects and nerve dysfunction, showing IP3R3 loss affects IP3R1 and IP3R2 levels and Ca2+ signaling.
PLoS Genetics · Jan 13, 2025Peer-reviewedGenetics