Author(s): Sacher M; DeLoriea J; Mehranfar M; Casey C; Naaz A; Gamberi C;

TANGO2 deficiency disease (TDD) is a rare genetic disorder estimated to affect ~8000 individuals worldwide. It causes neurodegeneration often accompanied by potentially lethal metabolic crises that are triggered by diet or illness. Recent work has demonstrated distinct lipid imbalances in multiple model systems either depleted for or devoid of the TANGO2 ...

Article GUID: 38836374

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): Chartrand P, Jaramillo M, Gamberi C

Front Genet. 2020;11:430 Authors: Chartrand P, Jaramillo M, Gamberi C PMID: 32411184 [PubMed]

Article GUID: 32411184

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

Author(s): Millet-Boureima C, Porras Marroquin J, Gamberi C

Biomed Res Int. 2018;2018:5697436 Authors: Millet-Boureima C, Porras Marroquin J, Gamberi C

Article GUID: 29955604

Author(s): Yang E; Gamberi C; Chaurand P;

Matrix-assisted laser/desorption ionization imaging mass spectrometry (MALDI IMS) is an analytical technique for understanding the spatial distribution of biomolecules across a sample surface. Originally employed for mammalian tissues, this technology has been adapted to study specimens as diverse as microbes and cell cultures, food such as strawberries, ...

Article GUID: 31038251