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Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Panneman DM, Wortmann SB, Haaxma CA, van Hasselt PM, Wolf NI, Hendriks Y, Küsters B, van Emst-de Vries S, van de Westerlo E, Koopman WJH, Wintjes L, van den Brandt F, de Vries M, Lefeber DJ, Smeitink JAM, Rodenburg RJ. Panneman DM, et al. Among authors: van emst de vries s. Clin Genet. 2020 Apr;97(4):556-566. doi: 10.1111/cge.13706. Epub 2020 Jan 30. Clin Genet. 2020. PMID: 31957011 Free PMC article.
Trolox-sensitive reactive oxygen species regulate mitochondrial morphology, oxidative phosphorylation and cytosolic calcium handling in healthy cells.
Distelmaier F, Valsecchi F, Forkink M, van Emst-de Vries S, Swarts HG, Rodenburg RJ, Verwiel ET, Smeitink JA, Willems PH, Koopman WJ. Distelmaier F, et al. Among authors: van emst de vries s. Antioxid Redox Signal. 2012 Dec 15;17(12):1657-69. doi: 10.1089/ars.2011.4294. Epub 2012 Jun 13. Antioxid Redox Signal. 2012. PMID: 22559215 Free PMC article.
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. 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.
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.
The decylTPP mitochondria-targeting moiety lowers electron transport chain supercomplex levels in primary human skin fibroblasts.
Bulthuis EP, Einer C, Distelmaier F, Groh L, van Emst-de Vries SE, van de Westerlo E, van de Wal M, Wagenaars J, Rodenburg RJ, Smeitink JAM, Riksen NP, Willems PHGM, Adjobo-Hermans MJW, Zischka H, Koopman WJH. Bulthuis EP, et al. Among authors: van emst de vries se. Free Radic Biol Med. 2022 Aug 1;188:434-446. doi: 10.1016/j.freeradbiomed.2022.06.011. Epub 2022 Jun 17. Free Radic Biol Med. 2022. PMID: 35718301 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.
51 results