Associated Papers
O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.
Mayfield JM et al.
The Journal of Biological Chemistry, 2024
Identification of biallelic mutations in MCM3AP and comprehensive literature analysis.
Liu C et al.
Frontiers in Genetics, 2024
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Woldegebriel R et al.
Human Molecular Genetics, 2020
Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease.
Dong HL et al.
Journal of the Peripheral Nervous System : Jpns, 2020
A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.
Kennerson ML et al.
Brain : a Journal of Neurology, 2018
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Ylikallio E et al.
Brain : a Journal of Neurology, 2017
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
Schuurs-Hoeijmakers JH et al.
Journal of Medical Genetics, 2013
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