Peer-Reviewed Articles

Eissa N.R., Abdel-Salam G.M., Kretkiewicz M., Pieters E., Jaeken J., Matthijs G., Wilson M.P. Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model. Hum Mol Genet. 2026 Aug 10;35(17):ddag068. doi: 10.1093/hmg/ddag068. PMID: 42574251.

Raynor A., de Sainte-Agathe J-M., Post M.A., Barth M., Zijlstra F., Huijben K., Kouri I., Couasnard A., Bellenda P., Dupré T., Souche E., Lebredonchel E., Cholet S., Cantaloube I., Ratier A., Jacquin E., Peoc’h K.,  Fenaille F., Matthijs G., Jaeken J., Bandeira A., Quelhas D., Lefeber D.J., Bruneel A., Wilson M.P. ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female,” Journal of Inherited Metabolic Disease 48, no. 6 (2025): e70109,  https://doi.org/10.1002/jimd.70109.

Pieters E., Jaeken J., Wilson M.P. Genetic disorders of dolichol synthesis and utilization. Molecular Genetics and Metabolism (2025) 109226. doi: 10.1016/j.ymgme.2025.109226

Wilson, M.P., Morava, E. (2025). Dolichol synthesis defects: a cautionary note on the use of statins. Mol Genet Metab, 145 (4). doi: 10.1016/j.ymgme.2025.109186

Khalil, Y., Footitt, E., Vootukuri, R., Wempe, M.F., Coughlin, C.R., Batzios, S., Wilson, M.P., Kozich, V., Clayton, P.T., Mills, P.B. with Mills, P.B. (corresp. author) (2025). Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency. JOURNAL OF INHERITED METABOLIC DISEASE, 48 (1). doi: 10.1002/jimd.12783

Kentache, T., Althoff, C.R., Caligiore, F., Souche, E., Schulz, C., Graff, J., Pieters, E., Stanley, P., Contessa, J.N., Van Schaftingen, E., Matthijs, G., Foulquier, F., Bommer, G.T., Wilson, M.P.  (2024). Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells. JOURNAL OF BIOLOGICAL CHEMISTRY, 300 (12), Art.No. ARTN 107875. doi: 10.1016/j.jbc.2024.107875

Wilson, M.P.*, Kentache, T.*, Althoff, C.R.*, Schulz, C., de Bettignies, G., Cabrera, G.M., Cimbalistiene, L., Burnyte, B., Yoon, G., Costain, G., Vuillaumier-Barrot, S., Cheillan, D., Rymen, D., Rychtarova, L., Hansikova, H., Bury, M., Dewulf, J.P., Caligiore, F., Jaeken, J., Cantagrel, V., Van Schaftingen, E., Matthijs, G., Foulquier, F., Bommer, G.T. with Van Schaftingen, E. (corresp. author), Matthijs, G. (corresp. author), Foulquier, F. (corresp. author), Bommer, G.T. (corresp. author) (2024). A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis. CELL, 187 (14). doi: 10.1016/j.cell.2024.04.041

Duran-Romana, R., Houben, B., De Vleeschouwer, M., Louros, N., Wilson, M.P., Matthijs, G., Schymkowitz, J., Rousseau, F. (2024). N-glycosylation as a eukaryotic protective mechanism against protein aggregation. SCIENCE ADVANCES, 10 (5), Art.No. ARTN eadk8173. doi: 10.1126/sciadv.adk8173

del Cano-Ochoa, F., Ng, B.G., Rubio-del-Campo, A., Mahajan, S., Wilson, M.P., Vilar, M., Rymen, D., Sanchez-Pintos, P., Kenny, J., Ley Martos, M., Campos, T., Wortmann, S.B., Freeze, H.H., Ramon-Maiques, S. (2023). Beyond genetics: Deciphering the impact of missense variants in CAD deficiency. JOURNAL OF INHERITED METABOLIC DISEASE, 46 (6), 1170-1185. doi: 10.1002/jimd.12667

Wilson, M.P., Durin, Z., Unal, O., Ng, B.G., Marrecau, T., Keldermans, L., Souche, E., Rymen, D., Gunduz, M., Kose, G., Sturiale, L., Garozzo, D., Freeze, H.H., Jaeken, J., Foulquier, F., Matthijs, G. (2022). CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking. HUMAN MOLECULAR GENETICS, 31 (15), 2571-2581. doi: 10.1093/hmg/ddac055

Blommaert, E., Cherepanova, N.A., Staels, F., Wilson, M.P., Gilmore, R., Schrijvers, R., Jaeken, J., Foulquier, F., Matthijs, G. (2022). Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation. HUMAN GENETICS, 141 (7), 1279-1286. doi: 10.1007/s00439-021-02400-1

Wilson, M.P., Garanto, A., Vairo, F.P E., Ng, B.G., Ranatunga, W.K., Ventouratou, M., Baerenfaenger, M., Huijben, K., Thiel, C., Ashikov, A., Keldermans, L., Souche, E., Vuillaumier-Barrot, S., Dupre, T., Michelakakis, H., Fiumara, A., Pitt, J., White, S.M., Lim, S.C., Gallacher, L., Peters, H., Rymen, D., Witters, P., Ribes, A., Morales-Romero, B., Rodriguez-Palmero, A., Ballhausen, D., de Lonlay, P., Barone, R., Janssen, M.C H., Jaeken, J., Freeze, H.H., Matthijs, G., Morava, E., Lefeber, D.J. with Wilson, M.P. (corresp. author), Lefeber, D.J. (corresp. author) (2021). Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings. AMERICAN JOURNAL OF HUMAN GENETICS, 108 (11), 2130-2144. doi: 10.1016/j.ajhg.2021.09.012

Wilson, M.P., Matthijs, G. (2021). The evolving genetic landscape of congenital disorders of glycosylation. BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS, 1865 (11), Art.No. ARTN 129976. doi: 10.1016/j.bbagen.2021.129976

Wilson, M.P., Quelhas, D., Leão-Teles, E., Sturiale, L., Rymen, D., Keldermans, L., Race, V., Souche, E., Rodrigues, E., Campos, T., Van Schaftingen, E., Foulquier, F., Garozzo, D., Matthijs, G., Jaeken, J. (2021). SLC37A4-CDG: Second patient. JIMD Reports, 58 (1), 122-128. doi: 10.1002/jmd2.12195

Chelban, V., Wilson, M.P., Chardon, J.W., Vandrovcova, J., Zanetti, M.N., Zamba-Papanicolaou, E., Efthymiou, S., Pope, S., Conte, M.R., Abis, G., Liu, Y-T., Tribollet, E., Haridy, N.A., Botia, J.A., Ryten, M., Nicolaou, P., Minaidou, A., Christodoulou, K., Kernohan, K.D., Eaton, A., Osmond, M., Ito, Y., Bourque, P., Jepson, J.E C., Bello, O., Bremner, F., Cordivari, C., Reilly, M.M., Foiani, M., Heslegrave, A., Zetterberg, H., Heales, S.J R., Wood, N.W., Rothman, J.E., Boycott, K.M., Mills, P.B., Clayton, P.T., Houlden, H. (2019). PDXK mutations cause polyneuropathy responsive to pyridoxal 5 '-phosphate supplementation. ANNALS OF NEUROLOGY, 86 (2), 225-240. doi: 10.1002/ana.25524

Wilson, M.P., Plecko, B., Mills, P.B., Clayton, P.T. (2019). Disorders affecting vitamin B-6 metabolism. JOURNAL OF INHERITED METABOLIC DISEASE, 42 (4), 629-646. doi: 10.1002/jimd.12060

Wilson, M.P., Footitt, E.J., Papandreou, A., Uudeleppt, M-L., Pressler, R., Stevenson, D.C., Gabriel, C., McSweeney, M., Baggot, M., Burke, D., Stodberg, T., Riney, K., Schiff, M., Heales, S.J R., Mills, K.A., Gissen, P., Clayton, P.T., Mills, P.B. (2017). An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5′-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy. ANALYTICAL CHEMISTRY, 89 (17), 8892-8900. doi: 10.1021/acs.analchem.7b01358

Scott, T.A., Quintaneiro, L.M., Norvaisas, P., Lui, P.P., Wilson, M.P., Leung, K-Y., Herrera-Dominguez, L., Sudiwala, S., Pessia, A., Clayton, P.T., Bryson, K., Velagapudi, V., Mills, P.B., Typas, A., Greene, N.D E., Cabreiro, F. (2017). Host-Microbe Co-metabolism Dictates Cancer Drug Efficacy in C. elegans. CELL, 169 (3), 442-+. doi: 10.1016/j.cell.2017.03.040

Mohamed-Ahmed, A.H A.*, Wilson, M.P.*, Albuera, M., Chen, T., Mills, P.B., Footitt, E.J., Clayton, P.T., Tuleu, C. (2017). Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy. JOURNAL OF PHARMACY AND PHARMACOLOGY, 69 (4), 480-488. doi: 10.1111/jphp.12701 *Joint first authors

Darin, N., Reid, E., Prunetti, L., Samuelsson, L., Husain, R.A., Wilson, M., El Yacoubi, B., Footitt, E., Chong, W.K., Wilson, L.C., Prunty, H., Pope, S., Heales, S., Lascelles, K., Champion, M., Wassmer, E., Veggiotti, P., de Crecy-Lagard, V., Mills, P.B., Clayton, P.T. (2016). Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. AMERICAN JOURNAL OF HUMAN GENETICS, 99 (6), 1325-1337. doi: 10.1016/j.ajhg.2016.10.011

International Oral Communcations

Developments in the diagnosis and treatment of PNPO deficiency. SSIEM 2016, Rome. J Inherit Metab Dis 39 Suppl 1: S56. Oral Communication O-068.

Pyridox(am)ine 5’-Phosphate Oxidase Activity in Patients with Vitamin B6-Responsive epilepsy: findings and the effect of the common p.R116Q variant upon enzymatic activity. ICIEM 2017, Rio de Janeiro. Journal of Inborn Errors of Metabolism and Screening 6; Oral communication 846.

A novel genetic cause of neuropathy and optic atrophy treatable with vitamin B6 supplementation. ICH junior researcher symposium 2019, London.

Heterozygous mutations in STT3A:  an autosomal dominant CDG? Euroglycan-omics symposium 2020, Virtual.

Heterozygous de novo and inherited catalytic site STT3A missense mutations result in a dominant Congenital Disorder of Glycosylation. Scientific CDG Symposium 2021, Virtual.

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings. ICIEM 2021, Sydney, Australia (virtual participation due to Covid-19).

CAMLG-CDG: a novel glycosylation and membrane trafficking defect. ICIEM 2021, Sydney, Australia (virtual participation due to Covid-19).

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking. Closing lecture at the intracellular trafficking symposium 2022, Lille, France (invited plenary speaker).

RNA-Sequencing and the next generation of CDG diagnostics, World CDG Conference 2023, Lisbon, Portugal

DHRSX-CDG: a pseudoautosomal recessive inborn error of metabolism leads to the revision of dolichol biosynthesis, Emerging Perspectives in Glycobiology and Inborn Errors of Metabolism 2024, Leuven, Belgium

DHRSX-CDG: a pseudoautosomal recessive inborn error of metabolism leads to the revision of dolichol biosynthesis, SSIEM 2024, Porto, Portugal (Late breaking news plenary session, won SSIEM award for best research presentation from 3.000 participants)

The N-glycosylation and dolichol biosynthesis defects in Lec5 and Lec9 CHO cells are caused by absence of the DHRSX gene, Glycotreat symposium, Nijmegen, Netherlands, 2025

Revising dolichol biosynthesis: an unexpected detour, 16th Jenner Glycobiology Conference, Maynooth, Ireland, 2025 (invited plenary speaker)