1. Conte, Federica, Sam, Juda-El, Lefeber, Dirk J, Passier, Robert. 2023. Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review. In International journal of molecular sciences, 24, . doi:10.3390/ijms24108632. https://pubmed.ncbi.nlm.nih.gov/37239976/
2. Kranz, C, Denecke, J, Lehrman, M A, Harms, E, Marquardt, T. . A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). In The Journal of clinical investigation, 108, 1613-9. doi:. https://pubmed.ncbi.nlm.nih.gov/11733556/
3. Bennett, Daniel C, Cazet, Aurelie, Charest, Jon, Contessa, Joseph N. 2018. MPDU1 regulates CEACAM1 and cell adhesion in vitro and in vivo. In Glycoconjugate journal, 35, 265-274. doi:10.1007/s10719-018-9819-6. https://pubmed.ncbi.nlm.nih.gov/29671116/
4. Schenk, B, Imbach, T, Frank, C G, Hennet, T, Aebi, M. . MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. In The Journal of clinical investigation, 108, 1687-95. doi:. https://pubmed.ncbi.nlm.nih.gov/11733564/
5. Zhao, Hongying, Feng, Ke, Lei, Junjie, Ning, Shangwei, Wang, Li. 2024. Identification of somatic mutation-driven enhancers and their clinical utility in breast cancer. In iScience, 27, 108780. doi:10.1016/j.isci.2024.108780. https://pubmed.ncbi.nlm.nih.gov/38303701/
6. Haeuptle, Micha A, Hennet, Thierry. . Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. In Human mutation, 30, 1628-41. doi:10.1002/humu.21126. https://pubmed.ncbi.nlm.nih.gov/19862844/