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CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
van Karnebeek CDM, Tarailo-Graovac M, Leen R, Meinsma R, Correard S, Jansen-Meijer J, Prykhozhij SV, Pena IA, Ban K, Schock S, Saxena V, Pras-Raves ML, Drögemöller BI, Grootemaat AE, van der Wel NN, Dobritzsch D, Roseboom W, Schomakers BV, Jaspers YRJ, Zoetekouw L, Roelofsen J, Ferreira CR, van der Lee R, Ross CJ, Kochan J, McIntyre RL, van Klinken JB, van Weeghel M, Kramer G, Weschke B, Labrune P, Willemsen MA, Riva D, Garavaglia B, Moeschler JB, Filiano JJ, Ekker M, Berman JN, Dyment D, Vaz FM, Wassermann WW, Houtkooper RH, van Kuilenburg ABP. van Karnebeek CDM, et al. Among authors: wassermann ww. Genet Med. 2024 Feb 24;26(6):101104. doi: 10.1016/j.gim.2024.101104. Online ahead of print. Genet Med. 2024. PMID: 38411040 Free article.
Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.
Pérez-Torras S, Mata-Ventosa A, Drögemöller B, Tarailo-Graovac M, Meijer J, Meinsma R, van Cruchten AG, Kulik W, Viel-Oliva A, Bidon-Chanal A, Ross CJ, Wassermann WW, van Karnebeek CDM, Pastor-Anglada M, van Kuilenburg ABP. Pérez-Torras S, et al. Among authors: wassermann ww. Biochim Biophys Acta Mol Basis Dis. 2019 Jun 1;1865(6):1182-1191. doi: 10.1016/j.bbadis.2019.01.013. Epub 2019 Jan 15. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 30658162 Free article.