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Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.
Morava E, Schatz UA, Torring PM, Abbott MA, Baumann M, Brasch-Andersen C, Chevalier N, Dunkhase-Heinl U, Fleger M, Haack TB, Nelson S, Potelle S, Radenkovic S, Bommer GT, Van Schaftingen E, Veiga-da-Cunha M. Morava E, et al. Am J Hum Genet. 2021 Jun 3;108(6):1151-1160. doi: 10.1016/j.ajhg.2021.04.017. Epub 2021 May 11. Am J Hum Genet. 2021. PMID: 33979636 Free PMC article.
Perinatal and early infantile symptoms in congenital disorders of glycosylation.
Funke S, Gardeitchik T, Kouwenberg D, Mohamed M, Wortmann SB, Korsch E, Adamowicz M, Al-Gazali L, Wevers RA, Horvath A, Lefeber DJ, Morava E. Funke S, et al. Among authors: morava e. Am J Med Genet A. 2013 Mar;161A(3):578-84. doi: 10.1002/ajmg.a.35702. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401092
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ. Jansen JC, et al. Among authors: morava e. Am J Hum Genet. 2016 Feb 4;98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833330 Free PMC article.
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ. Jansen JC, et al. Among authors: morava e. Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833332 Free PMC article.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA. Van Damme T, et al. Among authors: morava e. Am J Hum Genet. 2017 Feb 2;100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010. Epub 2017 Jan 5. Am J Hum Genet. 2017. PMID: 28065471 Free PMC article.
Congenital disorders of glycosylation (CDG): Quo vadis?
Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Pérez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J. Péanne R, et al. Among authors: morava e. Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.2017.10.012. Epub 2017 Oct 25. Eur J Med Genet. 2018. PMID: 29079546 Free article. Review.
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, van den Brand M, van Kraaij S, van Asbeck E, Assouline Z, Rio M, de Lonlay P, Scholl-Buergi S, Wolthuis DFGJ, Hoischen A, Rodenburg RJ, Sperl W, Urban Z, Brandt U, Mayr JA, Wong S, de Brouwer APM, Nijtmans L, Munnich A, Rötig A, Wevers RA, Metodiev MD, Morava E. Gardeitchik T, et al. Among authors: morava e. Am J Hum Genet. 2018 Apr 5;102(4):685-695. doi: 10.1016/j.ajhg.2018.02.012. Epub 2018 Mar 22. Am J Hum Genet. 2018. PMID: 29576219 Free PMC article.
Central nervous involvement is common in PGM1-CDG.
Radenkovic S, Witters P, Morava E. Radenkovic S, et al. Among authors: morava e. Mol Genet Metab. 2018 Nov;125(3):200-204. doi: 10.1016/j.ymgme.2018.08.008. Epub 2018 Aug 21. Mol Genet Metab. 2018. PMID: 30262252 Review.
458 results