Publications by authors named "Mariel A M van den Brand"

12Publications

A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.

J Pediatr 2018 05 13;196:309-313.e3. Epub 2018 Feb 13.

Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476173173
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http://dx.doi.org/10.1016/j.jpeds.2017.12.043DOI Listing
May 2018

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.

Eur J Hum Genet 2017 11 30;25(11):1273-1277. Epub 2017 Aug 30.

Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2017.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643967PMC
November 2017

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.

Hum Mutat 2015 Jan 18;36(1):34-8. Epub 2014 Nov 18.

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Centre, GA Nijmegen, The Netherlands; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany.

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http://doi.wiley.com/10.1002/humu.22715
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http://dx.doi.org/10.1002/humu.22715DOI Listing
January 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

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.

PLoS Genet 2013 26;9(12):e1004034. Epub 2013 Dec 26.

Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia ; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1371/journal.pgen.1004034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873243PMC
August 2014

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.

Biochim Biophys Acta 2012 Feb 20;1822(2):168-75. Epub 2011 Oct 20.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2011.10.012DOI Listing
February 2012

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.

Am J Hum Genet 2011 Apr 31;88(4):488-93. Epub 2011 Mar 31.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Centre, PO Box 9101, NL-6500HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2011.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071910PMC
April 2011

Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.

Mol Genet Metab 2007 Jun 26;91(2):176-82. Epub 2007 Mar 26.

Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, Radboud University Nijmegen Medical Centre, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2007.02.007DOI Listing
June 2007