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Molecular Genetics and Metabolism|June 15, 2024
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processingBlai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, et al.Clinical Genetics|January 21, 2020
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunctionDaan M Panneman, Saskia B Wortmann, Charlotte A Haaxma, et al.Genome Medicine|December 24, 2017
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathiesReza Maroofian, Moniek Riemersma, Lucas T Jae, et al.International Journal of Molecular Sciences|May 13, 2023
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy HomeostasisFederica Conte, Angel Ashikov, Rachel Mijdam, et al.American Journal of Human Genetics|July 7, 2009
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathiesDirk J Lefeber, Johannes Schönberger, Eva Morava, et al.Analytical Chemistry|June 21, 2023
Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of MetabolismRianne E van Outersterp, Pieter C Kooijman, Jona Merx, et al.Analytical Chemistry|June 16, 2025
Structure Elucidation for MALDI Mass Spectrometry Imaging Using Infrared Ion SpectroscopyJelle L Schuurman, Lara van Tetering, Kas J Houthuijs, et al.Journal of Inherited Metabolic Disease|October 24, 2025
ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected FemaleAlexandre Raynor, Jean-Madeleine de Sainte-Agathe, Merel A Post, et al.Plos Genetics|January 14, 2012
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationDirk J Lefeber, Arjan P M de Brouwer, Eva Morava, et al.Iscience|July 31, 2023
Impact of infection on proteome-wide glycosylation revealed by distinct signatures for bacterial and viral pathogensEsther Willems, Jolein Gloerich, Anouk Suppers, et al.Pageof 17