A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.

Abstract

Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Mutations in PGM3 gene have been recently shown to… (More)
DOI: 10.1016/j.molimm.2017.06.248

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Cite this paper

@article{Benkhemis2017AFM, title={A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.}, author={Leila Ben-khemis and Najla Mekki and Imen Ben-Mustapha and Karen Rouault and Fethi Mellouli and Monia Kh{\'e}miri and Mohamed Bejaoui and Leila Essaddam and Saayda Ben-Becher and Lamia Boughamoura and Saida Hassayoun and Meriem Ben-ali and Mohamed Ridha Barbouche}, journal={Molecular immunology}, year={2017}, volume={90}, pages={57-63} }