Koster, Janet

A Lethal Defect of Mitochondrial and Peroxisomal Fission

Waterham, H. R., Koster, J., van Roermund, C. W. T., Mooyer, P. A. W., Wanders, R. J. A., & Leonard, J. V. (2007) · New England Journal of Medicine

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 749

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency

Ferdinandusse, S., Denis, S., Hogenhout, E. M., Koster, J., van Roermund, C. W. T., IJlst, L., Moser, A. B., Wanders, R. J. A., & Waterham, H. R. (2007) · Human Mutation

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 156

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

Ferdinandusse, S., Jimenez-Sanchez, G., Koster, J., Denis, S., Van Roermund, C. W., Silva-Zolezzi, I., Moser, A. B., Visser, W. F., Gulluoglu, M., Durmaz, O., et al. (2015) · Human Molecular Genetics

Metabolism and Genetic DisordersDrug Transport and Resistance Mechanisms

Cited by 134

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

Ferdinandusse, S., Falkenberg, K. D., Koster, J., Mooyer, P. A., Jones, R., van Roermund, C. W. T., Pizzino, A., Schrader, M., Wanders, R. J. A., Vanderver, A., et al. (2017) · Journal of Medical Genetics

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 120

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

Barøy, T., Koster, J., Strømme, P., Ebberink, M. S., Misceo, D., Ferdinandusse, S., Holmgren, A., Hughes, T., Merckoll, E., Westvik, J., et al. (2015) · Human Molecular Genetics

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 81

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

Coman, D., Vissers, L. E. L. M., Riley, L. G., Kwint, M. P., Hauck, R., Koster, J., Geuer, S., Hopkins, S., Hallinan, B., Sweetman, L., et al. (2018) · The American Journal of Human Genetics

Cholesterol and Lipid MetabolismMetabolism and Genetic Disorders

Cited by 42

Differential roles for ACBD4 and ACBD5 in peroxisome-ER interactions and lipid metabolism.

Costello, J. L., Koster, J., Silva, B. S. C., Worthy, H. L., Schrader, T. A., Hacker, C., Passmore, J., Kuypers, F. A., Waterham, H. R., & Schrader, M. (2023) · Journal of Biological Chemistry

Lipid metabolism and biosynthesisCellular transport and secretion

Cited by 18