Associated Papers
TRAPPopathies: Severe Multisystem Disorders Caused by Variants in Genes of the Transport Protein Particle (TRAPP) Complexes.
Hall R et al.
International Journal of Molecular Sciences, 2024
TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient.
Corona-Rivera JR et al.
Molecular Genetics and Metabolism, 2024
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K et al.
Brain : a Journal of Neurology, 2024
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
Munot P et al.
Neuropathology and Applied Neurobiology, 2022
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
Milev MP et al.
Scientific Reports, 2019
TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins.
Sacher M et al.
Traffic (copenhagen, Denmark), 2019
Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy.
Wang X et al.
Case Reports in Genetics, 2018
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.
Koehler K et al.
Journal of Medical Genetics, 2017
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
Al-Shamsi A et al.
Orphanet Journal of Rare Diseases, 2016
trappc11 is required for protein glycosylation in zebrafish and humans.
DeRossi C et al.
Molecular Biology of the Cell, 2016
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.
Liang WC et al.
Skeletal Muscle, 2015
In sickness and in health: the role of TRAPP and associated proteins in disease.
Brunet S et al.
Traffic (copenhagen, Denmark), 2014
Genetic basis of limb-girdle muscular dystrophies: the 2014 update.
Nigro V et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2014
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Bögershausen N et al.
American Journal of Human Genetics, 2013