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A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.
Ngu LH, Nijtmans LG, Distelmaier F, Venselaar H, van Emst-de Vries SE, van den Brand MA, Stoltenborg BJ, Wintjes LT, Willems PH, van den Heuvel LP, Smeitink JA, Rodenburg RJ. Ngu LH, et al. Among authors: van emst de vries se. Biochim Biophys Acta. 2012 Feb;1822(2):168-75. doi: 10.1016/j.bbadis.2011.10.012. Epub 2011 Oct 20. Biochim Biophys Acta. 2012. PMID: 22036843 Free article.
Metabolic consequences of NDUFS4 gene deletion in immortalized mouse embryonic fibroblasts.
Valsecchi F, Monge C, Forkink M, de Groof AJ, Benard G, Rossignol R, Swarts HG, van Emst-de Vries SE, Rodenburg RJ, Calvaruso MA, Nijtmans LG, Heeman B, Roestenberg P, Wieringa B, Smeitink JA, Koopman WJ, Willems PH. Valsecchi F, et al. Among authors: van emst de vries se. Biochim Biophys Acta. 2012 Oct;1817(10):1925-36. doi: 10.1016/j.bbabio.2012.03.006. Epub 2012 Mar 11. Biochim Biophys Acta. 2012. PMID: 22430089 Free article.
NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4-/- mice and Leigh syndrome patients: A stabilizing role for NDUFAF2.
Adjobo-Hermans MJW, de Haas R, Willems PHGM, Wojtala A, van Emst-de Vries SE, Wagenaars JA, van den Brand M, Rodenburg RJ, Smeitink JAM, Nijtmans LG, Sazanov LA, Wieckowski MR, Koopman WJH. Adjobo-Hermans MJW, et al. Among authors: van emst de vries se. Biochim Biophys Acta Bioenerg. 2020 Aug 1;1861(8):148213. doi: 10.1016/j.bbabio.2020.148213. Epub 2020 Apr 23. Biochim Biophys Acta Bioenerg. 2020. PMID: 32335026 Free article.
Corrigendum to "Superoxide production is inversely related to complex I activity in inherited complex I deficiency" [Biochim Biophys Acta. 1772 (3) (2007) 373-381].
Verkaart S, Koopman WJH, van Emst-de Vries SE, Nijtmans LGJ, van den Heuvel LWPJ, Smeitink JAM, Willems PHGM. Verkaart S, et al. Among authors: van emst de vries se. Biochim Biophys Acta Mol Basis Dis. 2021 Mar 1;1867(3):166015. doi: 10.1016/j.bbadis.2020.166015. Epub 2020 Dec 7. Biochim Biophys Acta Mol Basis Dis. 2021. PMID: 33303240 Free article. No abstract available.
51 results