Paul Gissen MRC Laboratory for Molecular Cell Biology University College London Biography Publications Institution JoVE Articles Paul Gissen has not added a biography. If you are Paul Gissen and would like to personalize this page please email our Author Liaison for assistance. Publications Clinical Disease Characteristics of Patients with Niemann-Pick Disease Type C: Findings from the International Niemann-Pick Disease Registry (INPDR) Orphanet Journal of Rare Diseases. 02, 2022 | Pubmed ID: 35164809 Efficacy and Safety of N-acetyl-L-leucine in Niemann-Pick Disease Type C Journal of Neurology. Mar, 2022 | Pubmed ID: 34387740 Cerebrospinal Fluid Neurofilament Light Chain Levels in CLN2 Disease Patients Treated with Enzyme Replacement Therapy Normalise After Two Years on Treatment F1000Research. 2021 | Pubmed ID: 35106137 The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges Genes. 11, 2021 | Pubmed ID: 34828443 Safety and Efficacy of an Engineered Hepatotropic AAV Gene Therapy for Ornithine Transcarbamylase Deficiency in Cynomolgus Monkeys Molecular Therapy. Methods & Clinical Development. Dec, 2021 | Pubmed ID: 34703837 A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C Children (Basel, Switzerland). Sep, 2021 | Pubmed ID: 34572251 Rab35 Controls Formation of Luminal Projections Required for Bile Canalicular Morphogenesis The Journal of Cell Biology. 10, 2021 | Pubmed ID: 34515738 Correction: An ERG and OCT Study of Neuronal Ceroid Lipofuscinosis CLN2 Battens Retinopathy Eye (London, England). Oct, 2021 | Pubmed ID: 34385699 An ERG and OCT Study of Neuronal Ceroid Lipofuscinosis CLN2 Battens Retinopathy Eye (London, England). 09, 2021 | Pubmed ID: 34272513 Investigating Health-related Quality of Life in Rare Diseases: a Case Study in Utility Value Determination for Patients with CLN2 Disease (neuronal Ceroid Lipofuscinosis Type 2) Orphanet Journal of Rare Diseases. 05, 2021 | Pubmed ID: 33980287 Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development Biomolecules. 04, 2021 | Pubmed ID: 33924076 Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for CLN2 Disease Patients Orphanet Journal of Rare Diseases. 04, 2021 | Pubmed ID: 33882967 Clinical Applications for Exosomes: Are We There Yet? British Journal of Pharmacology. 06, 2021 | Pubmed ID: 33751579 Urine Proteomics Analysis of Patients with Neuronal Ceroid Lipofuscinoses IScience. Feb, 2021 | Pubmed ID: 33532713 Clinical Pharmacokinetics and Pharmacodynamics of Cerliponase Alfa, Enzyme Replacement Therapy for CLN2 Disease by Intracerebroventricular Administration Clinical and Translational Science. 03, 2021 | Pubmed ID: 33202105 Gene Therapies Targeting the Liver Journal of Hepatology. 01, 2021 | Pubmed ID: 33071009 Correction: Alpha Synuclein Aggregation Drives Ferroptosis: an Interplay of Iron, Calcium and Lipid Peroxidation Cell Death and Differentiation. May, 2021 | Pubmed ID: 33041329 An Whole-Organ Liver Engineering for Testing of Genetic Therapies IScience. Dec, 2020 | Pubmed ID: 33305175 Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities Annals of Neurology. 11, 2020 | Pubmed ID: 32808683 Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease International Journal of Molecular Sciences. Jul, 2020 | Pubmed ID: 32709131 Gene Therapy for Global Brain Diseases: One Small Step for Mice, One Giant Leap for Humans Brain : a Journal of Neurology. 07, 2020 | Pubmed ID: 32671401 Correction: Alpha Synuclein Aggregation Drives Ferroptosis: an Interplay of Iron, Calcium and Lipid Peroxidation Cell Death and Differentiation. Sep, 2020 | Pubmed ID: 32409771 Alpha Synuclein Aggregation Drives Ferroptosis: an Interplay of Iron, Calcium and Lipid Peroxidation Cell Death and Differentiation. 10, 2020 | Pubmed ID: 32341450 Myostatin Inhibition in Combination with Antisense Oligonucleotide Therapy Improves Outcomes in Spinal Muscular Atrophy Journal of Cachexia, Sarcopenia and Muscle. 06, 2020 | Pubmed ID: 32031328 Free Urinary Glycosylated Hydroxylysine As an Indicator of Altered Collagen Degradation in the Mucopolysaccharidoses Journal of Inherited Metabolic Disease. 03, 2020 | Pubmed ID: 31452203 Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment Metabolites. Nov, 2019 | Pubmed ID: 31718089 High-Content Analysis of Mitochondrial Function in IPSC-Derived Neurons Methods in Molecular Biology (Clifton, N.J.). 2019 | Pubmed ID: 31124115 High-Content Autophagy Analysis in IPSC-Derived Neurons Using Immunofluorescence Methods in Molecular Biology (Clifton, N.J.). 2019 | Pubmed ID: 31124114 Seeding Induced Pluripotent Stem Cell-Derived Neurons Onto 384-Well Plates Methods in Molecular Biology (Clifton, N.J.). 2019 | Pubmed ID: 31124113 Mass Spectrometry Measurement of Albumin-Alpha Fetoprotein Ratio As an Indicator of IPSC-Derived Hepatocyte Differentiation Methods in Molecular Biology (Clifton, N.J.). 2019 | Pubmed ID: 31124112 Measurement of Bile Acids As a Marker of the Functionality of IPSC-Derived Hepatocytes Methods in Molecular Biology (Clifton, N.J.). 2019 | Pubmed ID: 31124111 Preparation of IPSCs for Targeted Proteomic Analysis Methods in Molecular Biology (Clifton, N.J.). 2019 | Pubmed ID: 31124110 Using Stem Cell-derived Neurons in Drug Screening for Neurological Diseases Neurobiology of Aging. 06, 2019 | Pubmed ID: 30925301 An Optimized Method for the Proteomic Analysis of Low Volumes of Cell Culture Media and the Secretome: The Application and the Demonstration of Altered Protein Expression in IPSC-Derived Neuronal Cell Lines from Parkinson's Disease Patients Journal of Proteome Research. 03, 2019 | Pubmed ID: 30562036 Age-Related Seroprevalence of Antibodies Against AAV-LK03 in a UK Population Cohort Human Gene Therapy. 01, 2019 | Pubmed ID: 30027761 Reproducibility of Molecular Phenotypes After Long-Term Differentiation To Human IPSC-Derived Neurons: A Multi-Site Omics Study Stem Cell Reports. 10, 2018 | Pubmed ID: 30245212 Author Correction: Molecular Architecture of the Multifunctional Collagen Lysyl Hydroxylase and Glycosyltransferase LH3 Nature Communications. 09, 2018 | Pubmed ID: 30237434 Argininosuccinic Aciduria Fosters Neuronal Nitrosative Stress Reversed by Asl Gene Transfer Nature Communications. 08, 2018 | Pubmed ID: 30158522 Molecular Architecture of the Multifunctional Collagen Lysyl Hydroxylase and Glycosyltransferase LH3 Nature Communications. 08, 2018 | Pubmed ID: 30089812 Severe Renal Fanconi and Management Strategies in Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: a Case Report BMC Nephrology. 06, 2018 | Pubmed ID: 29907094 A Single Cell High Content Assay Detects Mitochondrial Dysfunction in IPSC-derived Neurons with Mutations in SNCA Scientific Reports. 06, 2018 | Pubmed ID: 29899557 α-synuclein Oligomers Interact with ATP Synthase and Open the Permeability Transition Pore in Parkinson's Disease Nature Communications. 06, 2018 | Pubmed ID: 29895861 VPS33B and VIPAR Are Essential for Epidermal Lamellar Body Biogenesis and Function Biochimica Et Biophysica Acta. Molecular Basis of Disease. May, 2018 | Pubmed ID: 29409756 Oculomotor Abnormalities in Children with Niemann-Pick Type C Molecular Genetics and Metabolism. 02, 2018 | Pubmed ID: 29191430 Lamin and the Heart Heart (British Cardiac Society). 03, 2018 | Pubmed ID: 29175975 Mouse Decellularised Liver Scaffold Improves Human Embryonic and Induced Pluripotent Stem Cells Differentiation into Hepatocyte-like Cells PloS One. 2017 | Pubmed ID: 29261712 Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy The New England Journal of Medicine. 10, 2017 | Pubmed ID: 28976817 Gene Therapy for Monogenic Liver Diseases: Clinical Successes, Current Challenges and Future Prospects Journal of Inherited Metabolic Disease. 07, 2017 | Pubmed ID: 28567541 α-Synuclein Binds to the ER-mitochondria Tethering Protein VAPB to Disrupt Ca Homeostasis and Mitochondrial ATP Production Acta Neuropathologica. 07, 2017 | Pubmed ID: 28337542 Mutations in SLC25A22: Hyperprolinaemia, Vacuolated Fibroblasts and Presentation with Developmental Delay Journal of Inherited Metabolic Disease. 05, 2017 | Pubmed ID: 28255779 Expanding the Phenotype in Argininosuccinic Aciduria: Need for New Therapies Journal of Inherited Metabolic Disease. 05, 2017 | Pubmed ID: 28251416 Multiplex High-Throughput Targeted Proteomic Assay To Identify Induced Pluripotent Stem Cells Analytical Chemistry. 02, 2017 | Pubmed ID: 28192931 Vps33b is Crucial for Structural and Functional Hepatocyte Polarity Journal of Hepatology. 05, 2017 | Pubmed ID: 28082148 Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction And Collagen Modification The Journal of Investigative Dermatology. 04, 2017 | Pubmed ID: 28017832 Mutations in the Histone Methyltransferase Gene KMT2B Cause Complex Early-onset Dystonia Nature Genetics. Feb, 2017 | Pubmed ID: 27992417 The CHEVI Tethering Complex: Facilitating Special Deliveries The Journal of Pathology. 11, 2016 | Pubmed ID: 27555442 Whole Exome Sequencing Identifies Genetic Variants in Inherited Thrombocytopenia with Secondary Qualitative Function Defects Haematologica. 10, 2016 | Pubmed ID: 27479822 Regulation of Post-Golgi LH3 Trafficking is Essential for Collagen Homeostasis Nature Communications. 2016 | Pubmed ID: 27435297 Diagnostic Tests for Niemann-Pick Disease Type C (NP-C): A Critical Review Molecular Genetics and Metabolism. 08, 2016 | Pubmed ID: 27339554 Mutations in SLC39A14 Disrupt Manganese Homeostasis and Cause Childhood-onset Parkinsonism-dystonia Nature Communications. 05, 2016 | Pubmed ID: 27231142 Optimization of Liver Decellularization Maintains Extracellular Matrix Micro-Architecture and Composition Predisposing to Effective Cell Seeding PloS One. 2016 | Pubmed ID: 27159223 Structural and Functional Hepatocyte Polarity and Liver Disease Journal of Hepatology. Oct, 2015 | Pubmed ID: 26116792 Hepatic Regenerative Medicine Journal of Hepatology. Aug, 2015 | Pubmed ID: 26070391 VPS33B Regulates Protein Sorting into and Maturation of α-granule Progenitor Organelles in Mouse Megakaryocytes Blood. Jul, 2015 | Pubmed ID: 25947942 Inherited Metabolic Disorders Presenting As Acute Liver Failure in Newborns and Young Children: King's College Hospital Experience European Journal of Pediatrics. Oct, 2015 | Pubmed ID: 25902754 Perinatal Systemic Gene Delivery Using Adeno-associated Viral Vectors Frontiers in Molecular Neuroscience. 2014 | Pubmed ID: 25452713 Glomerular Involvement in the Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome Clinical Kidney Journal. Apr, 2013 | Pubmed ID: 26019847 Polymorphisms in ABCB11 and ATP8B1 Associated with Development of Severe Intrahepatic Cholestasis in Hodgkin's Lymphoma Journal of Clinical and Experimental Hepatology. Jun, 2013 | Pubmed ID: 25755490 Folliculin Interacts with P0071 (plakophilin-4) and Deficiency is Associated with Disordered RhoA Signalling, Epithelial Polarization and Cytokinesis Human Molecular Genetics. Dec, 2012 | Pubmed ID: 22965878 Associations Among Genotype, Clinical Phenotype, and Intracellular Localization of Trafficking Proteins in ARC Syndrome Human Mutation. Dec, 2012 | Pubmed ID: 22753090 Loss-of-function Mutations in RAB18 Cause Warburg Micro Syndrome American Journal of Human Genetics. Apr, 2011 | Pubmed ID: 21473985 Трехмерная характеристика межорганизационных контактных участков в гепатоцитах с помощью электронной микроскопии серийного сечения Gary Hong Chun Chung1, Paul Gissen1,2, Christopher J. Stefan1, Jemima J. Burden1 1MRC Laboratory for Molecular Cell Biology, University College London, 2NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London JoVE 63496 Biologie
Трехмерная характеристика межорганизационных контактных участков в гепатоцитах с помощью электронной микроскопии серийного сечения Gary Hong Chun Chung1, Paul Gissen1,2, Christopher J. Stefan1, Jemima J. Burden1 1MRC Laboratory for Molecular Cell Biology, University College London, 2NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London JoVE 63496 Biologie
