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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: houtkooper rh. 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.
Identification and characterization of human cardiolipin synthase.
Houtkooper RH, Akbari H, van Lenthe H, Kulik W, Wanders RJ, Frentzen M, Vaz FM. Houtkooper RH, et al. FEBS Lett. 2006 May 29;580(13):3059-64. doi: 10.1016/j.febslet.2006.04.054. Epub 2006 Apr 27. FEBS Lett. 2006. PMID: 16678169 Free article.
Cardiolipin, the heart of mitochondrial metabolism.
Houtkooper RH, Vaz FM. Houtkooper RH, et al. Cell Mol Life Sci. 2008 Aug;65(16):2493-506. doi: 10.1007/s00018-008-8030-5. Cell Mol Life Sci. 2008. PMID: 18425414 Review.
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome.
Houtkooper RH, Rodenburg RJ, Thiels C, van Lenthe H, Stet F, Poll-The BT, Stone JE, Steward CG, Wanders RJ, Smeitink J, Kulik W, Vaz FM. Houtkooper RH, et al. Anal Biochem. 2009 Apr 15;387(2):230-7. doi: 10.1016/j.ab.2009.01.032. Epub 2009 Jan 31. Anal Biochem. 2009. PMID: 19454236
The enigmatic role of tafazzin in cardiolipin metabolism.
Houtkooper RH, Turkenburg M, Poll-The BT, Karall D, Pérez-Cerdá C, Morrone A, Malvagia S, Wanders RJ, Kulik W, Vaz FM. Houtkooper RH, et al. Biochim Biophys Acta. 2009 Oct;1788(10):2003-14. doi: 10.1016/j.bbamem.2009.07.009. Epub 2009 Jul 18. Biochim Biophys Acta. 2009. PMID: 19619503 Free article. Review.
The dynamics of cardiolipin synthesis post-mitochondrial fusion.
Xu FY, McBride H, Acehan D, Vaz FM, Houtkooper RH, Lee RM, Mowat MA, Hatch GM. Xu FY, et al. Among authors: houtkooper rh. Biochim Biophys Acta. 2010 Aug;1798(8):1577-85. doi: 10.1016/j.bbamem.2010.04.007. Epub 2010 Apr 29. Biochim Biophys Acta. 2010. PMID: 20434430 Free article.
183 results