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Did you mean marie van den brand[Author] (33 results)?
TMEM70 functions in the assembly of complexes I and V.
Sánchez-Caballero L, Elurbe DM, Baertling F, Guerrero-Castillo S, van den Brand M, van Strien J, van Dam TJP, Rodenburg R, Brandt U, Huynen MA, Nijtmans LGJ. Sánchez-Caballero L, et al. Among authors: van den brand m. Biochim Biophys Acta Bioenerg. 2020 Aug 1;1861(8):148202. doi: 10.1016/j.bbabio.2020.148202. Epub 2020 Apr 7. Biochim Biophys Acta Bioenerg. 2020. PMID: 32275929 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 den brand m. 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.
NOA1 is an essential GTPase required for mitochondrial protein synthesis.
Kolanczyk M, Pech M, Zemojtel T, Yamamoto H, Mikula I, Calvaruso MA, van den Brand M, Richter R, Fischer B, Ritz A, Kossler N, Thurisch B, Spoerle R, Smeitink J, Kornak U, Chan D, Vingron M, Martasek P, Lightowlers RN, Nijtmans L, Schuelke M, Nierhaus KH, Mundlos S. Kolanczyk M, et al. Among authors: van den brand m. Mol Biol Cell. 2011 Jan 1;22(1):1-11. doi: 10.1091/mbc.E10-07-0643. Epub 2010 Nov 30. Mol Biol Cell. 2011. PMID: 21118999 Free PMC article.
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.
Baertling F, Sánchez-Caballero L, Timal S, van den Brand MA, Ngu LH, Distelmaier F, Rodenburg RJ, Nijtmans LG. Baertling F, et al. Among authors: van den brand ma. Mol Genet Metab. 2017 Mar;120(3):243-246. doi: 10.1016/j.ymgme.2016.12.005. Epub 2016 Dec 11. Mol Genet Metab. 2017. PMID: 27986404
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT. Wintjes LTM, et al. Among authors: van den brand mam. Hum Mutat. 2021 Feb;42(2):135-141. doi: 10.1002/humu.24137. Epub 2020 Nov 30. Hum Mutat. 2021. PMID: 33169484 Free PMC article.
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.
Nouws J, Nijtmans L, Houten SM, van den Brand M, Huynen M, Venselaar H, Hoefs S, Gloerich J, Kronick J, Hutchin T, Willems P, Rodenburg R, Wanders R, van den Heuvel L, Smeitink J, Vogel RO. Nouws J, et al. Among authors: van den brand m. Cell Metab. 2010 Sep 8;12(3):283-94. doi: 10.1016/j.cmet.2010.08.002. Cell Metab. 2010. PMID: 20816094 Free article.
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: van den brand m. 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.
29 results