Publications by authors named "Fabian Baertling"

22Publications

TMEM70 functions in the assembly of complexes I and V.

Biochim Biophys Acta Bioenerg 2020 08 7;1861(8):148202. Epub 2020 Apr 7.

Department of Paediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.bbabio.2020.148202DOI Listing
August 2020

Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia.

Genet Med 2020 03 22;22(3):654-655. Epub 2019 Oct 22.

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

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http://dx.doi.org/10.1038/s41436-019-0677-9DOI Listing
March 2020

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

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

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.

Hum Mutat 2017 06 23;38(6):692-703. Epub 2017 Mar 23.

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

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http://dx.doi.org/10.1002/humu.23210DOI Listing
June 2017

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.

Mol Genet Metab 2017 03 11;120(3):243-246. Epub 2016 Dec 11.

Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2016.12.005DOI Listing
March 2017

The many faces of paediatric mitochondrial disease on neuroimaging.

Childs Nerv Syst 2016 Nov 23;32(11):2077-2083. Epub 2016 Jul 23.

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/s00381-016-3190-3DOI Listing
November 2016

The Assembly Pathway of Mitochondrial Respiratory Chain Complex I.

Cell Metab 2017 01 6;25(1):128-139. Epub 2016 Oct 6.

OXPHOS Biogenesis Group, Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Center, Geert-Grooteplein Zuid 10, 6525 GA Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2016.09.002DOI Listing
January 2017

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

Metab Brain Dis 2017 02 8;32(1):267-270. Epub 2016 Aug 8.

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

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http://dx.doi.org/10.1007/s11011-016-9890-2DOI Listing
February 2017

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy.

Neurogenetics 2015 Oct 24;16(4):319-23. Epub 2015 Mar 24.

Department of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians University, Ziemssenstr. 1, 80336, Munich, Germany.

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http://dx.doi.org/10.1007/s10048-015-0444-2DOI Listing
October 2015

MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.

Neurogenetics 2015 Jul 10;16(3):237-40. Epub 2015 Feb 10.

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

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http://dx.doi.org/10.1007/s10048-015-0440-6DOI Listing
July 2015

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

Malonic aciduria: long-term follow-up of new patients detected by newborn screening.

Eur J Pediatr 2014 Dec 20;173(12):1719-22. Epub 2014 Sep 20.

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

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http://dx.doi.org/10.1007/s00431-014-2421-4DOI Listing
December 2014

Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency.

Neurology 2013 Jul;81(2):e10-1

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

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http://dx.doi.org/10.1212/WNL.0b013e31829a339bDOI Listing
July 2013

A guide to diagnosis and treatment of Leigh syndrome.

J Neurol Neurosurg Psychiatry 2014 Mar 14;85(3):257-65. Epub 2013 Jun 14.

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

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http://dx.doi.org/10.1136/jnnp-2012-304426DOI Listing
March 2014

Progesterone and estrogen prevent cisplatin-induced apoptosis of lung cancer cells.

Anticancer Res 2013 Mar;33(3):791-800

Otfried-Mueller Str. 10, D-72076 Tuebingen, Germany.

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March 2013

Hypertrichosis in presymptomatic mitochondrial disease.

J Inherit Metab Dis 2013 Nov 14;36(6):1081-2. Epub 2013 Feb 14.

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

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http://link.springer.com/content/pdf/10.1007/s10545-013-9593
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http://link.springer.com/10.1007/s10545-013-9593-3
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http://dx.doi.org/10.1007/s10545-013-9593-3DOI Listing
November 2013

Liver cirrhosis in glycogen storage disease Ib.

Mol Genet Metab 2013 Mar 11;108(3):198-200. Epub 2013 Jan 11.

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

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http://dx.doi.org/10.1016/j.ymgme.2013.01.003DOI Listing
March 2013

ADAM12 is expressed by astrocytes during experimental demyelination.

Brain Res 2010 Apr 20;1326:1-14. Epub 2010 Feb 20.

Institute of Neuroanatomy, Faculty of Medicine, RWTH Aachen University, Aachen, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S00068993100042
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http://dx.doi.org/10.1016/j.brainres.2010.02.049DOI Listing
April 2010

TTC staining of damaged brain areas after MCA occlusion in the rat does not constrict quantitative gene and protein analyses.

J Neurosci Methods 2010 Mar 12;187(1):84-9. Epub 2010 Jan 12.

Faculty of Medicine, Institute of Neuroanatomy, RWTH Aachen University, Wendlingweg 2, D-52074 Aachen, Germany.

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http://dx.doi.org/10.1016/j.jneumeth.2009.12.020DOI Listing
March 2010