List of works - Janet Koster

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

scientific article published on 23 October 2020

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

scientific article published on 25 April 2017

A lethal defect of mitochondrial and peroxisomal fission

scientific article published on April 2007

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

scientific article

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

scientific article

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

scientific article published in May 2012

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

scientific article published on 28 July 2015

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

scientific article published on 31 October 2016

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

scientific article published on 23 January 2014

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

scientific article

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

scientific article published on 15 August 2019

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

scientific article

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

scientific article published on 24 May 2019

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

scientific article published on June 10, 2011

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

scientific article published on 14 August 2014

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

scientific article published on 04 May 2020

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

scientific article published on January 1, 2011

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

scientific article

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in

scientific article published on 01 April 2019

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

scientific article

Human mevalonate pyrophosphate decarboxylase is localized in the cytosol

scientific article

Mevalonate kinase is a cytosolic enzyme in humans

scientific article

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency

scientific article published on August 2006

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

scientific article published on 24 December 2016

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

scientific article published on 10 July 2013

Phosphomevalonate kinase is a cytosolic protein in humans

scientific article

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

scientific article published on 25 August 2014

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

scientific article published on 14 June 2018

Studying the topology of peroxisomal acyl-CoA synthetases using self-assembling split sfGFP

scholarly article published on 19 January 2024

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

scientific article

Transfection of Primary Human Skin Fibroblasts for Peroxisomal Studies

scientific article published in January 2017

List of works by Janet Koster

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

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

A lethal defect of mitochondrial and peroxisomal fission

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in

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

Human mevalonate pyrophosphate decarboxylase is localized in the cytosol

Mevalonate kinase is a cytosolic enzyme in humans

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency

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

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

Phosphomevalonate kinase is a cytosolic protein in humans

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

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

Studying the topology of peroxisomal acyl-CoA synthetases using self-assembling split sfGFP

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

Transfection of Primary Human Skin Fibroblasts for Peroxisomal Studies