Associated Papers
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Brande LV et al.
Neuropathology and Applied Neurobiology, 2023
Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.
Cheli M et al.
Journal of Neuromuscular Diseases, 2023
Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design.
Dong YY et al.
Cell, 2018
30388443 (PubMed )
Supplement: mmc2.pdf
Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures.
Brady S et al.
Journal of Neuropathology and Experimental Neurology, 2016
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
Finlayson S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
Belaya K et al.
Annals of the New York Academy of Sciences, 2012
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
Belaya K et al.
American Journal of Human Genetics, 2012
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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