Lista de obras - Paul Gissen - Dominio Público Uruguay

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

artículo científico publicado en 2013

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

artículo científico publicado en 2003

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

artículo científico publicado en 2007

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

artículo científico publicado en 2002

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Alagille syndrome and other hereditary causes of cholestasis.

artículo científico

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2017

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

artículo científico publicado en 2018

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

artículo científico publicado el 1 de marzo de 2014

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2010

Clinical and molecular genetic features of ARC syndrome

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2007

Delivering efficient liver-directed AAV-mediated gene therapy

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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.

artículo científico publicado en 2017

Genetic and laboratory diagnostic approach in Niemann Pick disease type C

artículo científico publicado en 2014

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

artículo científico

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

artículo científico publicado en 2017

Hepatic regenerative medicine.

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

artículo científico publicado en 2002

Lamin and the heart

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2009

Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes ⬇️

artículo científico publicado el 1 de mayo de 2003

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2004

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

artículo científico publicado en 2016

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

artículo científico publicado en 2005

New hope for treatment of neonatal haemochromatosis.

artículo científico publicado en 2004

Oculomotor abnormalities in children with Niemann-Pick type C.

artículo científico publicado en 2017

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

artículo científico publicado en 2003

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

artículo científico publicado en 2016

Perinatal systemic gene delivery using adeno-associated viral vectors

artículo científico publicado en 2014

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

Recessive germlineSDHAandSDHBmutations causing leukodystrophy and isolated mitochondrial complex II deficiency ⬇️

artículo científico publicado el 1 de septiembre de 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2017

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.

artículo científico publicado en 2018

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

artículo científico publicado en 2018

Structural and functional hepatocyte polarity and liver disease

artículo científico publicado en 2015

Study of Intraventricular Cerliponase Alfa for CLN2 Disease.

artículo científico publicado en 2018

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

artículo científico publicado en 2011

Successful treatment of pyridoxine-unresponsive homocystinuria with betaine in pregnancy

artículo científico publicado en 2006

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

artículo científico publicado en 2018

The CHEVI tethering complex: facilitating special deliveries.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

The monoamine neurotransmitter disorders: an expanding range of neurological syndromes

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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.

artículo científico publicado en 2005

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Lista de obras de 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.