Author(s): Zykaj E; Abboud C; Asadi P; Warsame S; Almousa H; Milev MP; Greco BM; López-Sánchez M; Bratkovic D; Kachroo AH; Pérez-Jurado LA; Sacher M; ...

Variants in membrane trafficking proteins are known to cause rare disorders with severe symptoms. The highly conserved transport protein particle (TRAPP) complexes are key membrane trafficking regu ...

Article GUID: 39273027

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 demonstra ...

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; ...

Purpose: TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported in 2016, is characterized by neurodevelopmental delay, seizures, intermittent ataxia, hypot ...

Article GUID: 36473599

Author(s): Mansur A; Joseph R; Kim ES; Jean-Beltran PM; Udeshi ND; Pearce C; Jiang H; Iwase R; Milev MP; Almousa HA; McNamara E; Widrick J; Perez C; Ra ...

Ubiquitin-proteasome system (UPS) dysfunction is associated with the pathology of a wide range of human diseases, including myopathies and muscular atrophy. However, the mechanistic understanding o ...

Article GUID: 37432316

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 ...

Article GUID: 36502486

Author(s): Rawlins LE; Almousa H; Khan S; Collins SC; Milev MP; Leslie J; Saint-Dic D; Khan V; Hincapie AM; Day JO; McGavin L; Rowley C; Harlalka GV; V ...

The highly evolutionarily conserved transport protein particle (TRAPP) complexes (TRAPP II and III) perform fundamental roles in subcellular trafficking pathways. Here we identified biallelic seque ...

Article GUID: 35298461

Author(s): Munot P; McCrea N; Torelli S; Manzur A; Sewry C; Chambers D; Feng L; Ala P; Zaharieva I; Ragge N; Roper H; Marton T; Cox P; Milev MP; Liang ...

Aims: TRAPPC11, a subunit of the transport protein particle (TRAPP) complex is important for complex integrity and anterograde membrane transport from the endoplasmic reticulum (ER) to the ER-Golgi ...

Article GUID: 34648194

Author(s): Milev MP; Stanga D; Schänzer A; Nascimento A; Saint-Dic D; Ortez C; Natera-de Benito D; Barrios DG; Colomer J; Badosa C; Jou C; Gallano P; Gonzalez-Quereda L; Töpf A; Johnson K; Straub V; Hahn A; S ...

An amendment to this paper has been published and can be accessed via a link at the top of the paper.PMID: 33173071 [PubMed]

Article GUID: 33173071

Author(s): Milev MP, Saint-Dic D, Zardoui K, Klopstock T, Law C, Distelmaier F, Sacher M

TANGO2 variants result in a complex disease phenotype consisting of recurrent crisis-induced rhabdomyolysis, encephalopathy, seizures, lactic acidosis, hypoglycemia, and cardiac arrhythmias. Although first described in a fruit fly model as a protein necessa ...

Article GUID: 32909282

Author(s): Al-Deri N, Okur V, Ahimaz P, Milev M, Valivullah Z, Hagen J, Sheng Y, Chung W, Sacher M, Ganapathi M ...

BACKGROUND: Next-generation sequencing has facilitated the diagnosis of neurodevelopmental disorders with variable and non-specific clinical findings. Recently, a homozygous missense p.(Asp37Tyr) v ...

Article GUID: 32843486

Author(s): Lipatova Z, Van Bergen N, Stanga D, Sacher M, Christodoulou J, Segev N

Autophagy. 2020 Mar 02;: Authors: Lipatova Z, Van Bergen N, Stanga D, Sacher M, Christodoulou J, Segev N

Article GUID: 32116085