List of works - Paul Gissen

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

scientific article published on 16 May 2013

A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13

scientific article

A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth

scientific article published on 01 December 2007

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

scientific article

A single cell high content assay detects mitochondrial dysfunction in iPSC-derived neurons with mutations in SNCA.

scientific article published on 13 June 2018

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

scientific article published on 06 September 2016

Alagille syndrome and other hereditary causes of cholestasis.

scientific article published on May 2013

Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation

scientific article published on 27 April 2020

Alpha-Synuclein Oligomers Interact with Metal Ions to Induce Oxidative Stress and Neuronal Death in Parkinson's Disease

scientific article published on 12 November 2015

An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy

scientific article published on 7 August 2017

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

scientific article published in Nature Communications

Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Caused By VIPAR Mutation ⬇️

scientific article published on March 1, 2014

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

scientific article published on 06 August 2012

Author Correction: Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3

scientific article published in Nature Communications

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

scientific article published on 22 December 2016

Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.

scientific article published on 17 November 2011

Cargos and genes: insights into vesicular transport from inherited human disease

scientific article published in September 2007

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology

scientific article

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series

scientific article published on 23 December 2020

Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease

scientific article published on 17 July 2020

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

scientific article

Clinical and molecular genetic features of ARC syndrome

scientific article published on 01 August 2006

Clinical pharmacokinetics and pharmacodynamics of cerliponase alfa, enzyme replacement therapy for CLN2 disease by intracerebroventricular administration

scientific article published on 17 November 2020

Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights

scientific article

Consensus clinical management guidelines for Niemann-Pick disease type C.

scientific article published on 6 April 2018

Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

scientific article published on 01 November 2018

Correction: Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation

scientific article published on 14 May 2020

Correction: Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation

scientific article published on 12 October 2020

Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

scientific article published on 01 April 2019

Correspondence

scientific article published on 01 January 2007

Delivering efficient liver-directed AAV-mediated gene therapy

scientific article published on 12 January 2017

Design and validation of a metabolic disorder resequencing microarray (BRUM1).

scientific article published on July 2010

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

scientific article

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease

scientific article

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

scientific article published on 18 March 2014

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

scientific article

Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis

scientific article

Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses

scientific article published on 01 October 2019

Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects.

scientific article

Genetic and laboratory diagnostic approach in Niemann Pick disease type C

scientific article

Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.

scientific article published on 29 January 2013

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

scientific article published on 4 October 2017

Hepatic regenerative medicine.

scientific article published on 10 June 2015

High-Content Analysis of Mitochondrial Function in iPSC-Derived Neurons

scientific article published on 01 January 2019

High-Content Autophagy Analysis in iPSC-Derived Neurons Using Immunofluorescence

scientific article published on 01 January 2019

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

scientific article published on 26 May 2009

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease

scientific article published on 03 May 2016

Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene.

scientific article published in August 2006

Inherited metabolic disorders presenting as acute liver failure in newborns and young children: King's College Hospital experience.

scientific article published on 24 April 2015

Intentional overdose of warfarin in an adolescent: need for follow up

scientific article

Lamin and the heart

scientific article published on 25 November 2017

Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome.

scientific article published in May 2011

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

scientific article

MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation ⬇️

scientific article

Magnetic resonance spectroscopy in the diagnostic evaluation of brainstem lesions in Alexander disease

scientific article published on 26 January 2011

Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III

scientific article published on 01 May 2018

Mass Spectrometry Measurement of Albumin-Alpha Fetoprotein Ratio as an Indicator of iPSC-Derived Hepatocyte Differentiation

scientific article published on 01 January 2019

Measurement of Bile Acids as a Marker of the Functionality of iPSC-Derived Hepatocytes

scientific article published on 01 January 2019

Mice lacking the ITIM-containing receptor G6b-B exhibit macrothrombocytopenia and aberrant platelet function

scientific journal article

Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3

scientific article published in Nature Communications

Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

scientific article published on February 2009

Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes ⬇️

scientific article published on May 1, 2003

Mouse decellularised liver scaffold improves human embryonic and induced pluripotent stem cells differentiation into hepatocyte-like cells

scientific article published on 20 December 2017

Multiplex High-Throughput Targeted Proteomic Assay To Identify Induced Pluripotent Stem Cells

scientific article published on 6 February 2017

Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11.

scientific article published on 6 February 2013

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

scientific article

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay

scientific article

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease

scientific article

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

scientific article

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome.

scientific article published in June 2015

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

scientific article

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)

scientific article

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

scientific article

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

scientific article

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

scientific article

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

scientific article

New hope for treatment of neonatal haemochromatosis.

scientific article

Oculomotor abnormalities in children with Niemann-Pick type C.

scientific article

Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC.

scientific article

Optimization of Liver Decellularization Maintains Extracellular Matrix Micro-Architecture and Composition Predisposing to Effective Cell Seeding

scientific article published in 2016

Perinatal systemic gene delivery using adeno-associated viral vectors

scientific article

Phase I/II Trial of Liver-derived Mesenchymal Stem Cells in Pediatric Liver-based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-derived Progenitor Cells

scientific article published on 01 September 2019

Preparation of iPSCs for Targeted Proteomic Analysis

scientific article published on 01 January 2019

Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI.

scientific article published on 4 November 2015

Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome).

scientific article published on October 2010

Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome.

scientific article

Recessive germlineSDHAandSDHBmutations causing leukodystrophy and isolated mitochondrial complex II deficiency ⬇️

scientific article published on September 1, 2012

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

scientific article published in December 2017

Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis

scientific article (publication date: 20 July 2016)

Reproducibility of Molecular Phenotypes after Long-Term Differentiation to Human iPSC-Derived Neurons: A Multi-Site Omics Study

article

Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases

scientific article

Seeding Induced Pluripotent Stem Cell-Derived Neurons onto 384-Well Plates

scientific article published on 01 January 2019

Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report.

scientific article

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

scientific article published on 30 August 2018

Structural and functional hepatocyte polarity and liver disease

scientific article

Study of Intraventricular Cerliponase Alfa for CLN2 Disease.

scientific article

Submaximal inhibition of protein kinase C restores ADP-induced dense granule secretion in platelets in the presence of Ca2+.

scientific article published on 13 April 2011

Successful treatment of pyridoxine-unresponsive homocystinuria with betaine in pregnancy

scientific article published on 05 August 2006

Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies?

scientific article published on 18 October 2018

The CHEVI tethering complex: facilitating special deliveries.

scientific article published on 24 August 2016

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.

scientific article published on 4 May 2017

The monoamine neurotransmitter disorders: an expanding range of neurological syndromes

scientific article

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

scientific article

Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment

scientific article published on 12 November 2019

Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders

scientific article published on 27 January 2015

Using stem cell-derived neurons in drug screening for neurological diseases

scientific article published on 20 February 2019

VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function

scientific article published on 30 January 2018

VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes

scientific journal article

Vps33b is crucial for structural and functional hepatocyte polarity

scientific article published on 9 January 2017

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

scientific article

Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6.

scientific article published in December 2005

α-Synuclein binds to the ER-mitochondria tethering protein VAPB to disrupt Ca2+ homeostasis and mitochondrial ATP production

scientific article

α-synuclein oligomers interact with ATP synthase and open the permeability transition pore in Parkinson's disease.

scientific article published on 12 June 2018

List of works by Paul Gissen

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13

A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

A single cell high content assay detects mitochondrial dysfunction in iPSC-derived neurons with mutations in SNCA.

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Alagille syndrome and other hereditary causes of cholestasis.

Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation

Alpha-Synuclein Oligomers Interact with Metal Ions to Induce Oxidative Stress and Neuronal Death in Parkinson's Disease

An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Caused By VIPAR Mutation ⬇️

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

Author Correction: Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.

Cargos and genes: insights into vesicular transport from inherited human disease

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series

Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

Clinical and molecular genetic features of ARC syndrome

Clinical pharmacokinetics and pharmacodynamics of cerliponase alfa, enzyme replacement therapy for CLN2 disease by intracerebroventricular administration

Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights

Consensus clinical management guidelines for Niemann-Pick disease type C.

Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

Correction: Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation

Correction: Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation

Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

Correspondence

Delivering efficient liver-directed AAV-mediated gene therapy

Design and validation of a metabolic disorder resequencing microarray (BRUM1).

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis

Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses

Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects.

Genetic and laboratory diagnostic approach in Niemann Pick disease type C

Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

Hepatic regenerative medicine.

High-Content Analysis of Mitochondrial Function in iPSC-Derived Neurons

High-Content Autophagy Analysis in iPSC-Derived Neurons Using Immunofluorescence

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease

Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene.

Inherited metabolic disorders presenting as acute liver failure in newborns and young children: King's College Hospital experience.

Intentional overdose of warfarin in an adolescent: need for follow up

Lamin and the heart

Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome.

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation ⬇️

Magnetic resonance spectroscopy in the diagnostic evaluation of brainstem lesions in Alexander disease

Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III

Mass Spectrometry Measurement of Albumin-Alpha Fetoprotein Ratio as an Indicator of iPSC-Derived Hepatocyte Differentiation

Measurement of Bile Acids as a Marker of the Functionality of iPSC-Derived Hepatocytes

Mice lacking the ITIM-containing receptor G6b-B exhibit macrothrombocytopenia and aberrant platelet function

Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3

Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes ⬇️

Mouse decellularised liver scaffold improves human embryonic and induced pluripotent stem cells differentiation into hepatocyte-like cells

Multiplex High-Throughput Targeted Proteomic Assay To Identify Induced Pluripotent Stem Cells

Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11.

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome.

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

New hope for treatment of neonatal haemochromatosis.

Oculomotor abnormalities in children with Niemann-Pick type C.