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TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain

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 WC; Maruyama S; Nishino I; Sacher M; Phadke R; Muntoni F;

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 intermediate compartment. Several individuals with TRAPPC11 mutations have been reported with muscl ...

Article GUID: 34648194


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 CA, Sacher M, Moore SA

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, Moore SA

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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