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Neuropathology and Applied Neurobiology|October 14, 2021
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brainPinki Munot, Nadine McCrea, Silvia Torelli, et al.
Skeletal Muscle|June 2, 2018
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophyAustin A Larson, Peter R Baker, Miroslav P Milev, et al.
Scientific Reports|October 3, 2019
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the proteinMiroslav P Milev, Daniela Stanga, Anne Schänzer, et al.
Scientific Reports|November 11, 2020
Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the proteinMiroslav P Milev, Daniela Stanga, Anne Schänzer, et al.
Elife|July 11, 2023
Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onsetArian Mansur, Remi Joseph, Euri S Kim, et al.
Plos Genetics|March 17, 2022
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and miceLettie E Rawlins, Hashem Almousa, Shazia Khan, et al.
JCI Insight|March 25, 2025
SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisisNina Bögershausen, Büsranur Cavdarli, Taylor H Nagai, et al.
Journal of Medical Genetics|August 19, 2018
Bi-allelic mutations in <i>TRAPPC2L</i> result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblastsMiroslav P Milev, Claudio Graziano, Daniela Karall, et al.
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