Publications by authors named "An Jonckheere"

15Publications

Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.

Sci Rep 2015 Jan 26;5:8035. Epub 2015 Jan 26.

1] Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, NL-6500 HB Nijmegen, The Netherlands [2] Centre for Systems Biology and Bioenergetics, Radboud University Medical Center, Nijmegen, The Netherlands [3] Khondrion BV, Philips van Leydenlaan 15, 6525EX Nijmegen, The Netherlands.

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http://www.nature.com/articles/srep08035
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http://dx.doi.org/10.1038/srep08035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306129PMC
January 2015

A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome.

PLoS One 2014 10;9(11):e112950. Epub 2014 Nov 10.

Research Group Reproduction and Genetics (REGE), Vrije Universiteit Brussel (VUB), Brussels, Belgium; Center for Medical Genetics, UZ Brussel, Vrije Universiteit Brussel (VUB), Brussels, Belgium.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112950PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226615PMC
December 2015

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.

Hum Mol Genet 2014 Dec 9;23(23):6356-65. Epub 2014 Jul 9.

Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, PO Box 9101, 6500HB Nijmegen, The Netherlands,

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http://dx.doi.org/10.1093/hmg/ddu357DOI Listing
December 2014

Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

Eur J Hum Genet 2015 Jan 26;23(1):41-8. Epub 2014 Mar 26.

1] Research Group Reproduction and Genetics, Vrije Universiteit Brussel (VUB), Brussels, Belgium [2] Department of Pediatric Neurology, UZ Brussel, Vrije Universiteit Brussel (VUB), Brussels, Belgium.

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http://dx.doi.org/10.1038/ejhg.2014.49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266735PMC
January 2015

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.

Brain 2013 May 18;136(Pt 5):1544-54. Epub 2013 Apr 18.

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Laboratory for Genetic, Endocrine, and Metabolic Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/brain/awt086DOI Listing
May 2013

Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?

Mitochondrion 2013 Jan 17;13(1):15-24. Epub 2012 Nov 17.

Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Geert Grooteplein 10, 6500 HB, P.O. Box 9101 Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.mito.2012.11.002DOI Listing
January 2013

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.

Mitochondrion 2011 Nov 14;11(6):954-63. Epub 2011 Sep 14.

Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Laboratory for Genetic, Endocrine, and Metabolic Disorders, Radboud University Nijmegen Medical Center, 6500 HB Nijmegen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S15677249110027
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http://dx.doi.org/10.1016/j.mito.2011.08.012DOI Listing
November 2011

Mitochondrial ATP synthase: architecture, function and pathology.

J Inherit Metab Dis 2012 Mar 27;35(2):211-25. Epub 2011 Aug 27.

Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, 656 Laboratory for Genetic, Endocrine, and Metabolic Disorders, Radboud University Nijmegen Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-011-9382-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278611PMC
March 2012

High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders.

Clin Chem 2010 Mar 31;56(3):424-31. Epub 2009 Dec 31.

Laboratory of Pediatrics and Neurology, Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1373/clinchem.2009.131441DOI Listing
March 2010

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Brain 2009 Jan 16;132(Pt 1):136-46. Epub 2008 Nov 16.

Department of Paediatrics, Nijmegen Center for Mitochondrial Disorders, Radbound University Medical Center Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/brain/awn296DOI Listing
January 2009