Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

Ashwini Maratha; Henning Stockmann; Karen P. Coss; Estela Rubio Gozalbo; Ina Knerr; Maria Fitzgibbon; Terri P. McVeigh; Patricia Foley; Catherine Moss; Hugh-Owen Colhoun; Britt van Erven; Kelly Stephens; Peter Doran; Pauline Rudd; Eileen Treacy

doi:10.1038/ejhg.2015.254

Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

Ashwini Maratha, Henning Stockmann, Karen P. Coss, Estela Rubio Gozalbo, Ina Knerr, Maria Fitzgibbon, Terri P. McVeigh, Patricia Foley, Catherine Moss, Hugh-Owen Colhoun, Britt van Erven, Kelly Stephens, Peter Doran, Pauline Rudd, Eileen Treacy^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Classical galactosaemia (OMIM # 230400), a rare disorder of carbohydrate metabolism, is caused by a deficient activity of galactose-1-phosphate uridyltransferase (EC 2.7.7.12). The pathophysiology of the long-term complications, mainly cognitive, neurological and female fertility problems remains poorly understood. The lack of validated biomarkers to determine prognosis, monitor disease progression and responses to new therapies, pose a huge challenge. We report the detailed analysis of an automated robotic hydrophilic interaction ultra-performance liquid chromatography N-glycan analytical method of high glycan peak resolution applied to serum IgG. This has revealed specific N-glycan processing defects observed in 40 adult galactosaemia patients (adults and adolescents), in comparison with 81 matched healthy controls. We have identified a significant increase in core fucosylated neutral glycans (P

Original language	English
Pages (from-to)	976-984
Journal	European Journal of Human Genetics
Volume	24
Issue number	7
DOIs	https://doi.org/10.1038/ejhg.2015.254
Publication status	Published - Jul 2016

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10.1038/ejhg.2015.254

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Maratha, A., Stockmann, H., Coss, K. P., Rubio Gozalbo, E., Knerr, I., Fitzgibbon, M., McVeigh, T. P., Foley, P., Moss, C., Colhoun, H.-O., van Erven, B., Stephens, K., Doran, P., Rudd, P., & Treacy, E. (2016). Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis. European Journal of Human Genetics, 24(7), 976-984. https://doi.org/10.1038/ejhg.2015.254

@article{4f381c01face46349d14a82c9cbb133e,

title = "Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis",

abstract = "Classical galactosaemia (OMIM # 230400), a rare disorder of carbohydrate metabolism, is caused by a deficient activity of galactose-1-phosphate uridyltransferase (EC 2.7.7.12). The pathophysiology of the long-term complications, mainly cognitive, neurological and female fertility problems remains poorly understood. The lack of validated biomarkers to determine prognosis, monitor disease progression and responses to new therapies, pose a huge challenge. We report the detailed analysis of an automated robotic hydrophilic interaction ultra-performance liquid chromatography N-glycan analytical method of high glycan peak resolution applied to serum IgG. This has revealed specific N-glycan processing defects observed in 40 adult galactosaemia patients (adults and adolescents), in comparison with 81 matched healthy controls. We have identified a significant increase in core fucosylated neutral glycans (P",

author = "Ashwini Maratha and Henning Stockmann and Coss, {Karen P.} and {Rubio Gozalbo}, Estela and Ina Knerr and Maria Fitzgibbon and McVeigh, {Terri P.} and Patricia Foley and Catherine Moss and Hugh-Owen Colhoun and {van Erven}, Britt and Kelly Stephens and Peter Doran and Pauline Rudd and Eileen Treacy",

year = "2016",

month = jul,

doi = "10.1038/ejhg.2015.254",

language = "English",

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publisher = "Nature Publishing Group",

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Maratha, A, Stockmann, H, Coss, KP, Rubio Gozalbo, E, Knerr, I, Fitzgibbon, M, McVeigh, TP, Foley, P, Moss, C, Colhoun, H-O, van Erven, B, Stephens, K, Doran, P, Rudd, P & Treacy, E 2016, 'Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis', European Journal of Human Genetics, vol. 24, no. 7, pp. 976-984. https://doi.org/10.1038/ejhg.2015.254

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T1 - Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

AU - Maratha, Ashwini

AU - Stockmann, Henning

AU - Coss, Karen P.

AU - Rubio Gozalbo, Estela

AU - Knerr, Ina

AU - Fitzgibbon, Maria

AU - McVeigh, Terri P.

AU - Foley, Patricia

AU - Moss, Catherine

AU - Colhoun, Hugh-Owen

AU - van Erven, Britt

AU - Stephens, Kelly

AU - Doran, Peter

AU - Rudd, Pauline

AU - Treacy, Eileen

PY - 2016/7

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DO - 10.1038/ejhg.2015.254

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