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Untangling the pathophysiology of congenital disorders of glycosylation affecting the OST complex


The evolving genetic landscape of congenital disorders of glycosylation

Author(s): Matthew P. Wilson, Gert Matthijs
Published in: Biochimica et Biophysica Acta (BBA) - General Subjects, 1865/11, 2021, Page(s) 129976, ISSN 0304-4165
Publisher: Elsevier BV
DOI: 10.1016/j.bbagen.2021.129976

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking

Author(s): Matthew P Wilson, Zoé Durin, Özlem Unal, Bobby G Ng, Thomas Marrecau, Liesbeth Keldermans, Erika Souche, Daisy Rymen, Mehmet Gündüz, Gülşen Köse, Luisa Sturiale, Domenico Garozzo, Hudson H Freeze, Jaak Jaeken, François Foulquier, Gert Matthijs
Published in: Human Molecular Genetics, 2022, ISSN 0964-6906
Publisher: Oxford University Press
DOI: 10.1093/hmg/ddac055

SLC37A4‐CDG : Second patient

Author(s): Matthew P. Wilson, Dulce Quelhas, Elisa Leão‐Teles, Luisa Sturiale, Daisy Rymen, Liesbeth Keldermans, Valérie Race, Erika Souche, Esmeralda Rodrigues, Teresa Campos, Emile Van Schaftingen, François Foulquier, Domenico Garozzo, Gert Matthijs, Jaak Jaeken
Published in: JIMD Reports, 2021, ISSN 2192-8312
Publisher: Wiley
DOI: 10.1002/jmd2.12195

Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation

Author(s): Eline Blommaert, Natalia A. Cherepanova, Frederik Staels, Matthew P. Wilson, Reid Gilmore, Rik Schrijvers, Jaak Jaeken, François Foulquier & Gert Matthijs
Published in: Human Genetics, 2022, ISSN 1432-1203
Publisher: Springer
DOI: 10.1007/s00439-021-02400-1

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

Author(s): Matthew P. Wilson, Alejandro Garanto, Filippo Pinto e Vairo, Bobby G. Ng, Wasantha K. Ranatunga, Marina Ventouratou, Melissa Baerenfaenger, Karin Huijben, Christian Thiel, Angel Ashikov, Liesbeth Keldermans, Erika Souche, Sandrine Vuillaumier-Barrot, Thierry Dupré, Helen Michelakakis, Agata Fiumara, James Pitt, Susan M. White, Sze Chern Lim, Lyndon Gallacher, Heidi Peters, Daisy Rymen, Peter Witt
Published in: The American Journal of Human Genetics, 108/11, 2021, Page(s) 2130-2144, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.09.012

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