Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela

Missense mutations in the TGM2 gene enco

Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes

✍ O. Porzio; O. Massa; V. Cunsolo; C. Colombo; M. Malaponti; F. Bertuzzi; T. Hanse 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 310 KB

Transglutaminase 2 (TG2 or TGM2) is a multi-functional enzyme which catalyzes transamidation reactions or acts as a G-protein in intracellular signalling. Tgm2 -/-Mice lacking TG2 activity are glucose intolerant and show impairment of insulin secretion, suggesting an important physiological role for