Associated Papers
The structure of POMGNT2 provides new insights into the mechanism to determine the functional O-mannosylation site on α-dystroglycan.
Imae R et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2021
Crystal structures of β-1,4-N-acetylglucosaminyltransferase 2: structural basis for inherited muscular dystrophies.
Yang JY et al.
Acta Crystallographica. Section D, Structural Biology, 2021
Milder forms of muscular dystrophy associated with POMGNT2 mutations.
Endo Y et al.
Neurology. Genetics, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
N-acetylglucosamine modification in the lumen of the endoplasmic reticulum.
Ogawa M et al.
Biochimica Et Biophysica Acta, 2015
AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan.
Yagi H et al.
Scientific Reports, 2013
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
Manzini MC et al.
American Journal of Human Genetics, 2012
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