Author(s): Sandkuhler SE; Youngs KS; Gottipalli O; Owlett LD; Bandora MB; Naaz A; Kim E; Wang L; Wojtovich A; Gupta V; Sacher M; Mackenzie SJ;

Mutations in the TANGO2 gene are associated with a severe neurometabolic disorder in humans, often presenting with life-threatening metabolic crisis. However, the function of TANGO2 protein remains unknown. It has recently been proposed that TANGO2 transports heme within and between cells, from a ...

Article GUID: 41504601

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