List of works - Hans R Waterham

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 PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents

scientific article

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

scientific article published on 03 July 2019

A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder ⬇️

scientific article published on September 1, 2010

A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing

scientific article

A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C

scientific article

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

A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids.

scientific article published on 13 December 2013

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

scientific article published on 31 October 2016

Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis

scientific article

Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice

scientific article

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

scientific article published in December 2017

An UPLC-MS/MS Assay to Measure Glutathione as Marker for Oxidative Stress in Cultured Cells

article published in 2019

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

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder

scientific article published on 9 September 2013

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

Barley has two peroxisomal ABC transporters with multiple functions in β-oxidation

scientific article

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

scientific article published on 15 August 2019

Biochemistry of mammalian peroxisomes revisited

scientific article (publication date: 2006)

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment ⬇️

scientific article

Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts

scientific article

Clinical and biochemical characterization of four patients with mutations in ECHS1.

scientific article published on 18 June 2015

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency

scientific article published in August 2006

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

Demonstration and characterization of phosphate transport in mammalian peroxisomes

scientific article published on August 2005

Demonstration of bile acid transport across the mammalian peroxisomal membrane

scientific article published on 26 March 2007

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

scientific article published on June 10, 2011

Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation ⬇️

scientific article published on December 8, 2010

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

scientific article published on 14 August 2014

Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study.

scientific article

Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency

scientific article published in January 2010

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

scientific article

First identification of a 2-ketoglutarate/isocitrate transport system in mammalian peroxisomes and its characterization

scientific article published on 20 July 2006

Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency

scientific article

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

Functions and biosynthesis of plasmalogens in health and disease.

scientific article published on March 2004

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

scientific article

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

scientific article published on January 1, 2011

Genetics and molecular basis of human peroxisome biogenesis disorders

scientific article published on 25 April 2012

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

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

scientific article

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

Identification of PEX7 as the second gene involved in Refsum disease

scientific article

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

scientific article

Identification of novel mutations in classical galactosemia

scientific article

Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency

scientific article published on 13 September 2005

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism

scientific article

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata

scientific journal article

Laboratory Diagnosis of Peroxisomal Disorders in the -Omics Era and the Continued Importance of Biomarkers and Biochemical Studies

scholarly article

Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum

scientific article

Metabolite transport across the peroxisomal membrane

scientific article published on January 2007

Mevalonate kinase is a cytosolic enzyme in humans

scientific article

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).

scientific article published on March 2004

Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose

scientific article published on 19 July 2019

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency

scientific article published on August 2006

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis

scientific article

Mutations in PEX10 are a cause of autosomal recessive ataxia.

scientific article published on August 2010

Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency ⬇️

scientific article published on March 31, 2012

Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure

scientific article

Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder ⬇️

scientific article (publication date: February 2004)

Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia

scientific article

Peroxisomal ABC transporters: functions and mechanism ⬇️

scientific article

Peroxisomal Fatty Acid Uptake Mechanism in Saccharomyces cerevisiae ⬇️

scientific article published on April 9, 2012

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

scientific article published on 24 December 2016

Peroxisomal disorders: the single peroxisomal enzyme deficiencies

scientific article

Peroxisomal fatty acid alpha- and beta-oxidation in health and disease: new insights.

scientific article published on January 2003

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients

scientific article published in May 2004

Peroxisome deficiency does not result in deficiency of enzymes involved in cholesterol biosynthesis.

scientific article

Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4

Phosphomevalonate kinase is a cytosolic protein in humans

scientific article

Prostate Cancer Proliferation Is Affected by the Subcellular Localization of MCT2 and Accompanied by Significant Peroxisomal Alterations

scientific article published on 27 October 2020

Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling

scientific journal article

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

scientific article

Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder ⬇️

scientific article (publication date: November 2003)

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

scientific article published on 25 August 2014

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients

scientific article published on January 2010

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

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy

scientific article

Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact.

scientific article published on 2 May 2018

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives ⬇️

scientific article published on October 29, 2012

The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency

scientific article

The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency

scientific article published on 10 October 2015

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

scientific article published on 20 May 2010

The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters

scientific article

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders

scientific article published on 04 March 2016

The neurology of rhizomelic chondrodysplasia punctata

scientific article

The peroxisomal ABC transporter family

scientific article published on 13 October 2006

The peroxisomal lumen in Saccharomyces cerevisiae is alkaline

scientific article

The proteome of human liver peroxisomes: identification of five new peroxisomal constituents by a label-free quantitative proteomics survey

scientific article

Transfection of Primary Human Skin Fibroblasts for Peroxisomal Studies

scientific article published in January 2017

X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy

scientific article published in December 2011

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

scientific article

List of works by Hans R Waterham

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

A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents

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

A lethal defect of mitochondrial and peroxisomal fission

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

A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder ⬇️

A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing

A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C

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

A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids.

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

Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis

Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

An UPLC-MS/MS Assay to Measure Glutathione as Marker for Oxidative Stress in Cultured Cells

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

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder

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

Barley has two peroxisomal ABC transporters with multiple functions in β-oxidation

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

Biochemistry of mammalian peroxisomes revisited

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment ⬇️

Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts

Clinical and biochemical characterization of four patients with mutations in ECHS1.

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency

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

Demonstration and characterization of phosphate transport in mammalian peroxisomes

Demonstration of bile acid transport across the mammalian peroxisomal membrane

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

Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation ⬇️

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

Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study.

Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

First identification of a 2-ketoglutarate/isocitrate transport system in mammalian peroxisomes and its characterization

Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency

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

Functions and biosynthesis of plasmalogens in health and disease.

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

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

Genetics and molecular basis of human peroxisome biogenesis disorders

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

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

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

Identification of PEX7 as the second gene involved in Refsum disease

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

Identification of novel mutations in classical galactosemia

Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata

Laboratory Diagnosis of Peroxisomal Disorders in the -Omics Era and the Continued Importance of Biomarkers and Biochemical Studies

Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum

Metabolite transport across the peroxisomal membrane

Mevalonate kinase is a cytosolic enzyme in humans

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).

Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis

Mutations in PEX10 are a cause of autosomal recessive ataxia.

Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency ⬇️

Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure

Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder ⬇️

Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia

Peroxisomal ABC transporters: functions and mechanism ⬇️

Peroxisomal Fatty Acid Uptake Mechanism in Saccharomyces cerevisiae ⬇️

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

Peroxisomal disorders: the single peroxisomal enzyme deficiencies

Peroxisomal fatty acid alpha- and beta-oxidation in health and disease: new insights.

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients

Peroxisome deficiency does not result in deficiency of enzymes involved in cholesterol biosynthesis.

Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4

Phosphomevalonate kinase is a cytosolic protein in humans

Prostate Cancer Proliferation Is Affected by the Subcellular Localization of MCT2 and Accompanied by Significant Peroxisomal Alterations