- Preventing the transmission of mitochondrial DNA disorders: selecting the good guys or kicking out the bad guys
Hubert J M Smeets
Unit Clinical Genomics, Department of Genetics and Cell Biology, School for Growth and Development and for Cardiovascular Research, Maastricht University Medical Centre, Maastricht, The Netherlands Electronic address
Reprod Biomed Online 27:599-610. 2013
..Technically and ethically challenging possibilities, such maternal spindle transfer and pronuclear transfer, are emerging and providing carriers additional prospects of giving birth to a healthy child...
- Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome
Department of Genetics and Cell Biology, P O Box 616, 6200 MD Maastricht, The Netherlands
Brain 136:882-90. 2013
..Especially, Moroccan patients with Leigh syndrome should be tested for the c.20C>A founder mutation in SLC19A3...
- Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene
Department of Genetics and Cell Biology, Clinical Genomics Unit, Maastricht University, 6200 MD Maastricht, The Netherlands
Brain 134:210-9. 2011
..Our data support a new function for ACAD9 in complex I function, making this gene an important new candidate for patients with complex I deficiency, which could be improved by riboflavin treatment...
- Regional absence of mitochondria causing energy depletion in the myocardium of muscle LIM protein knockout mice
Bianca J C van den Bosch
Cardiovascular Research Institute Maastricht CARIM, Department of Genetics and Cell Biology, Maastricht University, P O Box 616, 6200 MD Maastricht, The Netherlands
Cardiovasc Res 65:411-8. 2005
..We tested the hypothesis that defects in the cytoskeleton lead to dilated cardiomyopathy through mitochondrial dysfunction in the MLP mouse model...
- HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency
Aimee D C Paulussen
Department of Genetics and Cell Biology CARIM NUTRIM, University of Maastricht, P O Box 616 16, 6200 MD Maastricht, The Netherlands
Cardiovasc Res 67:467-75. 2005
..We identified a novel mutation in a LQTS family and investigated its functional consequences using molecular and microscopic techniques...
- A functional polymorphism of the mu-opioid receptor gene (OPRM1) influences cue-induced craving for alcohol in male heavy drinkers
Esther van den Wildenberg
Faculty of Psychology, Maastricht University, 6200 MD Maastricht, The Netherlands
Alcohol Clin Exp Res 31:1-10. 2007
..This study investigated the influence of the A118G polymorphism on cue reactivity after exposure to an alcoholic beverage in male heavy drinkers...
- Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association
Ruben S R M Martherus
Department of Clinical Genomics, Maastricht University, Universiteitssingel 50, P O Box 616, 6200 MD, Maastricht, The Netherlands
Biochem Biophys Res Commun 402:203-8. 2010
..We predicted both genes to be involved in oxidative phosphorylation. Through in vitro experiments using gene-knockdown we could indeed confirm this and furthermore we asserted CHCHD10 to play a role in complex IV activity...