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Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells.
Cell Rep. 2016 Jul 19;16(3):622-30. doi: 10.1016/j.celrep.2016.06.023. Epub 2016 Jun 30.
Cell Rep. 2016.
PMID: 27373161
Free article.
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H.
Gerards M, et al.
Brain. 2013 Mar;136(Pt 3):882-90. doi: 10.1093/brain/awt013. Epub 2013 Feb 18.
Brain. 2013.
PMID: 23423671
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Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.
Nguyen M, Boesten I, Hellebrekers DM, Vanoevelen J, Kamps R, de Koning B, de Coo IF, Gerards M, Smeets HJ.
Nguyen M, et al.
Eur J Hum Genet. 2016 Apr;24(4):619-22. doi: 10.1038/ejhg.2015.158. Epub 2015 Jul 22.
Eur J Hum Genet. 2016.
PMID: 26197978
Free PMC article.
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Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.
Nguyen M, Boesten I, Hellebrekers DM, Mulder-den Hartog NM, de Coo IF, Smeets HJ, Gerards M.
Nguyen M, et al.
Clin Genet. 2017 Jan;91(1):121-125. doi: 10.1111/cge.12774. Epub 2016 Apr 8.
Clin Genet. 2017.
PMID: 26951855
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Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number.
Otten AB, Stassen AP, Adriaens M, Gerards M, Dohmen RG, Timmer AJ, Vanherle SJ, Kamps R, Boesten IB, Vanoevelen JM, Muller M, Smeets HJ.
Otten AB, et al. Among authors: boesten ib.
Genetics. 2016 Dec;204(4):1423-1431. doi: 10.1534/genetics.116.194035. Epub 2016 Oct 21.
Genetics. 2016.
PMID: 27770035
Free PMC article.
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Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Kamps R, Szklarczyk R, Theunissen TE, Hellebrekers DMEI, Sallevelt SCEH, Boesten IB, de Koning B, van den Bosch BJ, Salomons GS, Simas-Mendes M, Verdijk R, Schoonderwoerd K, de Coo IFM, Vanoevelen JM, Smeets HJM.
Kamps R, et al. Among authors: boesten ib.
Eur J Hum Genet. 2018 Apr;26(4):537-551. doi: 10.1038/s41431-017-0058-2. Epub 2018 Feb 13.
Eur J Hum Genet. 2018.
PMID: 29440775
Free PMC article.
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A time window for rescuing dying retinal ganglion cells.
You W, Knoops K, Boesten I, Berendschot TTJM, van Zandvoort MAMJ, Benedikter BJ, Webers CAB, Reutelingsperger CPM, Gorgels TGMF.
You W, et al.
Cell Commun Signal. 2024 Jan 31;22(1):88. doi: 10.1186/s12964-023-01427-3.
Cell Commun Signal. 2024.
PMID: 38297331
Free PMC article.
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