Publications by authors named "Katharina Danhauser"

18Publications

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.

Stem Cell Res Ther 2017 06 24;8(1):150. Epub 2017 Jun 24.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Moorenstraße 5, 40225, Düsseldorf, Germany.

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http://dx.doi.org/10.1186/s13287-017-0601-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482938PMC
June 2017

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.

Eur J Hum Genet 2017 09 14;25(9):1092-1095. Epub 2017 Jun 14.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Düsseldorf, Germany.

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http://dx.doi.org/10.1038/ejhg.2017.96DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558179PMC
September 2017

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.

Metab Brain Dis 2016 06 16;31(3):717-21. Epub 2016 Jan 16.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr 5, 40225, Düsseldorf, Germany.

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http://dx.doi.org/10.1007/s11011-016-9793-2DOI Listing
June 2016

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.

Eur J Hum Genet 2016 Mar 17;24(3):450-4. Epub 2015 Jun 17.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.

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http://dx.doi.org/10.1038/ejhg.2015.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755375PMC
March 2016

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease.

J Inherit Metab Dis 2015 May 17;38(3):467-75. Epub 2015 Feb 17.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Moorenstr. 5, D-40225, Düsseldorf, Germany.

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http://link.springer.com/content/pdf/10.1007/s10545-014-9796
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http://link.springer.com/10.1007/s10545-014-9796-2
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http://dx.doi.org/10.1007/s10545-014-9796-2DOI Listing
May 2015

Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α.

Biochim Biophys Acta 2015 Mar 20;1852(3):529-40. Epub 2014 Dec 20.

Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2014.12.012DOI Listing
March 2015

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

Am J Hum Genet 2013 Aug 11;93(2):211-23. Epub 2013 Jul 11.

Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2013.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738821PMC
August 2013