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TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Author(s): Almousa H; Lewis SA; Bakhtiari S; Nordlie SH; Pagnozzi A; Magee H; Efthymiou S; Heim JA; Cornejo P; Zaki MS; Anwar N; Maqbool S; Rahman F; N ...

Highly conserved transport protein particle (TRAPP) complexes regulate subcellular trafficking pathways. Accurate protein trafficking has been increasingly recognized to be critically important for ...

Article GUID: 37713627


The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria.

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


Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.

Author(s): Milev MP, Grout ME, Saint-Dic D, Cheng YH, Glass IA, Hale CJ, Hanna DS, Dorschner MO, Prematilake K, Shaag A, Elpeleg O, Sacher M, Doherty D ...

Am J Hum Genet. 2017 Aug 03;101(2):291-299 Authors: Milev MP, Grout ME, Saint-Dic D, Cheng YH, Glass IA, Hale CJ, Hanna DS, Dorschner MO, Prematilake K, Shaag A, Elpeleg O, Sacher M, Doherty D, Ed ...

Article GUID: 28777934


TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.

Author(s): Larson AA, Baker PR, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams ...

Skelet Muscle. 2018 05 31;8(1):17 Authors: Larson AA, Baker PR, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M ...

Article GUID: 29855340


TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins.

Author(s): Sacher M, Shahrzad N, Kamel H, Milev MP

Traffic. 2019 01;20(1):5-26 Authors: Sacher M, Shahrzad N, Kamel H, Milev MP

Article GUID: 30152084


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