Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II

Erwin van Wijk, Ronald J. E. Pennings, Heleen te Brinke, +6

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsNovel ExonsMolecular Genetics +4

Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation

Gozde Colak, Olga Pougovkina, Lunzhi Dai, +13

Molecular & Cellular Proteomics

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

Erwin van Wijk, Bert van der Zwaag, Theo Peters, +12

Human Molecular Genetics

Signal TransductionDevelopmental BiologySignaling PathwayDevelopmental GeneticsDirect Association +12

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2

Jan Reiners, Erwin van Wijk, Tina Märker, +8

Human Molecular Genetics

Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation

Olga Pougovkina, Heleen te Brinke, Rob Ofman, +5

Human Molecular Genetics

Mitochondrial long chain fatty acid β-oxidation in man and mouse

Malika Chegary, Heleen te Brinke, Jos P.N. Ruiter, +8

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Metabolic SyndromeOxysterolBiochemistryMitochondrial FunctionMitochondrial Dynamic +8

Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient

Sara Violante, Lodewijk IJlst, Heleen te Brinke, +5

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

BiosynthesisBiochemistryPhysiologyAcylcarnitine ProductionCarbonyl Metabolism +4

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia

Sander M. Houten, Simone Denis, Heleen te Brinke, +9

Human Molecular Genetics

Mitochondrial NadpGeneticsRedox BiologyOxidative StressMitochondrial Biogenesis +14

Aberrant protein acylation is a common observation in inborn errors of acyl‐CoA metabolism

Olga Pougovkina, Heleen te Brinke, Ronald J. A. Wanders, +2

Journal of Inherited Metabolic Disease

Differential effects of short- and long-term high-fat diet feeding on hepatic fatty acid metabolism in rats

Jolita Čiapaitė, Nicole M. van den Broek, Heleen te Brinke, +4

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Metabolic SyndromeNutritionDifferential EffectsHepatologyLipid Nutrition +6