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): Miyake CY; Lay EJ; Soler-Alfonso C; Glinton KE; Houck KM; Tosur M; Moran NE; Stephens SB; Scaglia F; Howard TS; Kim JJ; Pham TD; Valdes SO; Li N; Murali CN; Zhang L; Kava M; Yim D; Beach C; Webster G; Liberman L; Janson CM; Kannankeril P ...

Purpose: TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported in 2016, is characterized by neurodevelopmental delay, seizures, intermittent ataxia, hypothyroidism, and life-threatening metabolic and cardiac crises. The purpose of this study was to defin ...

Article GUID: 36473599