H. te Brinke

发表

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

C. Cremers, R. Roepman, U. Wolfrum, 2006, Human molecular genetics.

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

R. Roepman, U. Wolfrum, E. van Wijk, 2005, Human molecular genetics.

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

Sander M Houten, Ronald J A Wanders, R. Wanders, 2014, Human molecular genetics.

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA

H. te Brinke, L. Ijlst, N. van Vlies, 2017, Annals of neurology.

Phenotype Determination Guides Swift Genotyping of a DFNA2/KCNQ4 Family With a Hot Spot Mutation (W276S)

C. Cremers, H. Kremer, H. te Brinke, 2005, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

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

R. Wanders, H. te Brinke, S. Houten, 2013, Biochimica et biophysica acta.

Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature.

H. te Brinke, L. Ijlst, N. van Vlies, 2017, Molecular genetics and metabolism.

Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation.

R. Wanders, H. te Brinke, S. Houten, 2008, Molecular genetics and metabolism.

Development of a genotyping microarray for Usher syndrome

C. Cremers, M. Bitner-Glindzicz, E. van Wijk, 2006, Journal of Medical Genetics.

Genetic basis of hyperlysinemia

M. Baumgartner, S. Denis, H. te Brinke, 2013, Orphanet Journal of Rare Diseases.

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

F. Baas, R. Hennekam, S. Denis, 2014, Human molecular genetics.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

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.

C. Cremers, E. van Wijk, H. Kremer, 2004, American journal of human genetics.

Impaired amino acid metabolism contributes to fasting-induced hypoglycemia in fatty acid oxidation defects.

C. Argmann, S. Denis, R. Wanders, 2013, Human molecular genetics.

ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies.

H. te Brinke, S. Houten, L. Nijtmans, 2014, Human molecular genetics.

USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II

C. Cremers, A. Deutman, H. Kremer, 2004, Human mutation.

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

N. M. van den Broek, H. te Brinke, K. Nicolay, 2011, Biochimica et biophysica acta.

Increased protein propionylation contributes to mitochondrial dysfunction in liver cells and fibroblasts, but not in myotubes

H. te Brinke, R. Wanders, J. Keijer, 2020, Journal of inherited metabolic disease.

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

Ronald J A Wanders, Zhongyi Cheng, Jason W Locasale, 2015, Molecular & Cellular Proteomics.

A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency

S. Ferdinandusse, H. Waterham, R. Wanders, 2019, Human mutation.

Impaired amino acid metabolism contributes to fasting-induced hypoglycemia in fatty acid oxidation defects.

C. Argmann, S. Denis, R. Wanders, 2013, Human molecular genetics.

Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylate.

H. te Brinke, S. Chornyi, Sander F. Garrelfs, 2024, Journal of inherited metabolic disease.