Cantagrel, Vincent

SRD5A3 Is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., et al. (2010) · Cell

Glycosylation and Glycoproteins ResearchGlycogen Storage Diseases and Myoclonus

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Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Barbosa, S., Greville-Heygate, S., Bonnet, M., Godwin, A., Fagotto-Kaufmann, C., Kajava, A. V., Laouteouet, D., Mawby, R., Wai, H. A., Dingemans, A. J. M., et al. (2020) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersProtein Kinase Regulation and GTPase Signaling

Cited by 104

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

Wilson, M. P., Kentache, T., Althoff, C. R., Schulz, C., de Bettignies, G., Mateu Cabrera, G., Cimbalistiene, L., Burnyte, B., Yoon, G., Costain, G., et al. (2024) · Cell

Glycosylation and Glycoproteins ResearchGlycogen Storage Diseases and Myoclonus

Cited by 30