Author(s): Asadi P; Milev MP; Saint-Dic D; Gamberi C; Sacher M;

Mutations in the Transport and Golgi Organization 2 (TANGO2) gene are associated with intellectual deficit, neurodevelopmental delay and regression. Individuals can also present with an acute metabolic crisis that includes rhabdomyolysis, cardiomyopathy and cardiac arrhythmias, the latter of which are potentially lethal. While preventing metabolic crises ...

Article GUID: 36502486

Author(s): Millet-Boureima C; Ennis CC; Jamison J; McSweeney S; Park A; Gamberi C;

Melatonin functions as a central regulator of cell and organismal function as well as a neurohormone involved in several processes, e.g., the regulation of the circadian rhythm, sleep, aging, oxidative response, and more. As such, it holds immense pharmacological potential. Receptor-mediated melatonin function mainly occurs through MT1 and MT2, conserved ...

Article GUID: 34698120

Author(s): Millet-Boureima C; Rozencwaig R; Polyak F; Gamberi C;

Autosomal dominant polycystic kidney disease (ADPKD) causes progressive cystic degeneration of the renal tubules, the nephrons, eventually severely compromising kidney function. ADPKD is incurable, with half of the patients eventually needing renal replacement. Treatments for ADPKD patients are limited and new effective therapeutics are needed. Melatonin, ...

Article GUID: 33238462

Author(s): Millet-Boureima C, Selber-Hnatiw S, Gamberi C

Genome. 2020 Jun 18;: Authors: Millet-Boureima C, Selber-Hnatiw S, Gamberi C

Article GUID: 32551911

Author(s): Millet-Boureima C, Chingle R, Lubell WD, Gamberi C

Biomedicines. 2019 Oct 18;7(4): Authors: Millet-Boureima C, Chingle R, Lubell WD, Gamberi C

Article GUID: 31635379