J. Koster

发表

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

S. Ferdinandusse, H. Waterham, R. Wanders, 2014, Brain : a journal of neurology.

Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency

H. Waterham, J. Koster, Saskia H. L. Mandey, 2006, Human mutation.

Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature

O. Lichtarge, H. Waterham, M. Shinawi, 2011, American journal of medical genetics. Part A.

3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method

S. Ferdinandusse, H. Waterham, R. Wanders, 2022, Journal of inherited metabolic disease.

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

H. Waterham, R. Wanders, M. Durán, 1999, Human molecular genetics.

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

H. Waterham, R. Wanders, W. Kuis, 2001, European Journal of Human Genetics.

A Functional SMAD2/3 Binding Site in the PEX11β Promoter Identifies a Role for TGFβ in Peroxisome Proliferation in Humans

H. Waterham, M. Schrader, Suzan Kors, 2020, Frontiers in Cell and Developmental Biology.

Human mevalonate pyrophosphate decarboxylase is localized in the cytosol.

H. Waterham, R. Wanders, J. Koster, 2004, Molecular genetics and metabolism.

Mutations in the 3 beta-hydroxysterol Delta ( 24 )-reductase gene cause desmosterolosis , an autosomal recessive disorder of Waterham

P. Vreken, R. Hennekam, H. Waterham, 2001 .

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

H. Waterham, R. Wanders, W. Kuis, 2001, European Journal of Human Genetics.

A lethal defect of mitochondrial and peroxisomal fission.

H. Waterham, R. Wanders, J. Leonard, 2007, The New England journal of medicine.

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene

H. Waterham, R. Wanders, J. Fock, 2012, Journal of Medical Genetics.

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

H. Waterham, R. Wanders, J. Koster, 2011, Human mutation.

Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype

H. Waterham, C. Paulusma, A. Bootsma, 2015, Hepatology.

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

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

Genotype‐phenotype correlation in PEX5‐deficient peroxisome biogenesis defective cell lines

H. Waterham, R. Wanders, F. Eyskens, 2009, Human mutation.

Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect

S. Ferdinandusse, H. Waterham, R. Wanders, 2021, Frontiers in Cell and Developmental Biology.

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

A. Vanderver, S. Ferdinandusse, H. Waterham, 2016, Journal of Medical Genetics.

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS

Phillip A. Richmond, S. Scherer, R. Yuen, 2019, The New England journal of medicine.

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

A. Moser, D. Valle, G. Jiménez-Sánchez, 2015, Human molecular genetics.

A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase.

S. Ferdinandusse, S. Denis, H. Waterham, 2018, Biochimica et biophysica acta. Molecular basis of disease.

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

D. Misceo, S. Ferdinandusse, H. Waterham, 2015, Human molecular genetics.

An unusual phenotype of X‐linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene

H. Waterham, R. Caswell, C. Tysoe, 2014, American journal of medical genetics. Part A.

Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene

H. Waterham, R. Wanders, R. Wanders, 2003 .

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.

R. Hennekam, H. Waterham, R. Wanders, 2003, American journal of human genetics.

Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.

P. Vreken, R. Hennekam, H. Waterham, 2001, American journal of human genetics.

Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.

S. Ferdinandusse, H. Waterham, R. Wanders, 2016, JIMD reports.

Deciphering the potential involvement of PXMP2 and PEX11B in hydrogen peroxide permeation across the peroxisomal membrane reveals a role for PEX11B in protein sorting.

H. Waterham, M. Baes, M. Fransen, 2019, Biochimica et biophysica acta. Biomembranes.

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

F. Baas, J. Auwerx, H. Waterham, 2017, bioRxiv.

Rac1/PI3K/PKB-dependent caspase-1 activation HMG-CoA reductase inhibition induces IL-1² release through

H. Waterham, J. Beekman, J. Koster, 2009 .

HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation.

H. Waterham, P. Coffer, J. Beekman, 2008, Blood.

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

A. Moser, S. Ferdinandusse, S. Denis, 2007, Human mutation.

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.

C. Ross, W. Wasserman, H. Waterham, 2019, American journal of human genetics.

Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.

H. Waterham, S. Natesan, Silvy J. M. Dooren, 2020, Molecular genetics and metabolism.

Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.

I. T. de Almeida, R. Wanders, M. Durán, 2013, Biochimica et biophysica acta.

Mevalonate kinase is a cytosolic enzyme in humans

Ronald J A Wanders, Hans R Waterham, H. Waterham, 2004, Journal of Cell Science.

The origin of long-chain fatty acids required for de novo ether lipid/plasmalogen synthesis

H. Waterham, J. Koster, R. Ofman, 2023, Journal of lipid research.

Phosphomevalonate kinase is a cytosolic protein in humans Published, JLR Papers in Press, January 16, 2004. DOI 10.1194/jlr.M300373-JLR200

Ronald J A Wanders, Hans R Waterham, H. Waterham, 2004, Journal of Lipid Research.

Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line

S. Ferdinandusse, H. Waterham, J. Koster, 2016, Histochemistry and Cell Biology.

Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3b-Hydroxysterol D 14 -Reductase Deficiency Due to Mutations in the

R. Hennekam, H. Waterham, R. Wanders, 2003 .

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

L. Vissers, H. Waterham, J. Christodoulou, 2018, American journal of human genetics.

Manipulation of isoprenoid biosynthesis in mevalonate kinase deficiency

H. Waterham, J. Koster, Saskia H. L. Mandey, 2008 .

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

H. Waterham, M. Schrader, H. Worthy, 2023, The Journal of biological chemistry.

Autosomal recessive HEM/greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol Delta(14)-reductase deficiency due to mutations in the lamin B receptor gene

R. Wanders, J. Oosterwijk, R. Hennekam, 2003 .

Subcellular localization of the hum isoprenoid biosynthesis pathway

H. Waterham, J. Koster, S. Hogenboom, 2004 .

HUMA NN MEVALONAT E PYROPHOSPHATE DECARBOXYLASE IS EXCLUSIVELYY LOCALIZED IN THE CYTOSOL

H. Waterham, J. Koster, S. Hogenboom, 2007 .

Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype

H. Waterham, C. Paulusma, A. Bootsma, 2015, Hepatology.

Manipulation of isoprenoid biosynthesis in mevalonate kinase deficiency

H. Waterham, J. Koster, Saskia H. L. Mandey, 2022 .

The solute carrier SLC25A17 sustains peroxisomal redox homeostasis in diverse mammalian cell lines

H. Waterham, M. Fransen, J. Koster, 2023, Free Radical Biology and Medicine.