Paul Gissen

MRC Laboratory for Molecular Cell Biology, University College London

Affiliated withUniversity College London

Research Area

Biology

Biography

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JoVE Journal Publications

Article Total : 1	Year
Publication title	2022

Other Publications

Article	Year
Loss-of-function mutations in RAB18 cause Warburg micro syndrome. American journal of human genetics\| PubMed ID: 21473985	2011
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. Human mutation\| PubMed ID: 22753090	2012
Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis. Human molecular genetics\| PubMed ID: 22965878	2012
Perinatal systemic gene delivery using adeno-associated viral vectors. Frontiers in molecular neuroscience\| PubMed ID: 25452713	2014
Polymorphisms in ABCB11 and ATP8B1 Associated with Development of Severe Intrahepatic Cholestasis in Hodgkin's Lymphoma. Journal of clinical and experimental hepatology\| PubMed ID: 25755490	2013
Inherited metabolic disorders presenting as acute liver failure in newborns and young children: King's College Hospital experience. European journal of pediatrics\| PubMed ID: 25902754	2015
VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes. Blood\| PubMed ID: 25947942	2015
Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome. Clinical kidney journal\| PubMed ID: 26019847	2013
Hepatic regenerative medicine. Journal of hepatology\| PubMed ID: 26070391	2015
Structural and functional hepatocyte polarity and liver disease. Journal of hepatology\| PubMed ID: 26116792	2015
Optimization of Liver Decellularization Maintains Extracellular Matrix Micro-Architecture and Composition Predisposing to Effective Cell Seeding. PloS one\| PubMed ID: 27159223	2016
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nature communications\| PubMed ID: 27231142	2016
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review. Molecular genetics and metabolism\| PubMed ID: 27339554	2016
Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis. Nature communications\| PubMed ID: 27435297	2016
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects. Haematologica\| PubMed ID: 27479822	2016
The CHEVI tethering complex: facilitating special deliveries. The Journal of pathology\| PubMed ID: 27555442	2016
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature genetics\| PubMed ID: 27992417	2017
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification. The Journal of investigative dermatology\| PubMed ID: 28017832	2017
Vps33b is crucial for structural and functional hepatocyte polarity. Journal of hepatology\| PubMed ID: 28082148	2017
Multiplex High-Throughput Targeted Proteomic Assay To Identify Induced Pluripotent Stem Cells. Analytical chemistry\| PubMed ID: 28192931	2017
Expanding the phenotype in argininosuccinic aciduria: need for new therapies. Journal of inherited metabolic disease\| PubMed ID: 28251416	2017
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. Journal of inherited metabolic disease\| PubMed ID: 28255779	2017
α-Synuclein binds to the ER-mitochondria tethering protein VAPB to disrupt Ca homeostasis and mitochondrial ATP production. Acta neuropathologica\| PubMed ID: 28337542	2017
Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects. Journal of inherited metabolic disease\| PubMed ID: 28567541	2017
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy. The New England journal of medicine\| PubMed ID: 28976817	2017
Lamin and the heart. Heart (British Cardiac Society)\| PubMed ID: 29175975	2018
Oculomotor abnormalities in children with Niemann-Pick type C. Molecular genetics and metabolism\| PubMed ID: 29191430	2018
Mouse decellularised liver scaffold improves human embryonic and induced pluripotent stem cells differentiation into hepatocyte-like cells. PloS one\| PubMed ID: 29261712	2017
VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function. Biochimica et biophysica acta. Molecular basis of disease\| PubMed ID: 29409756	2018
α-synuclein oligomers interact with ATP synthase and open the permeability transition pore in Parkinson's disease. Nature communications\| PubMed ID: 29895861	2018
A single cell high content assay detects mitochondrial dysfunction in iPSC-derived neurons with mutations in SNCA. Scientific reports\| PubMed ID: 29899557	2018
Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report. BMC nephrology\| PubMed ID: 29907094	2018
Age-Related Seroprevalence of Antibodies Against AAV-LK03 in a UK Population Cohort. Human gene therapy\| PubMed ID: 30027761	2019
Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3. Nature communications\| PubMed ID: 30089812	2018
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer. Nature communications\| PubMed ID: 30158522	2018
Author Correction: Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3. Nature communications\| PubMed ID: 30237434	2018
Reproducibility of Molecular Phenotypes after Long-Term Differentiation to Human iPSC-Derived Neurons: A Multi-Site Omics Study. Stem cell reports\| PubMed ID: 30245212	2018
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 Neu... Journal of proteome research\| PubMed ID: 30562036	2019
Using stem cell-derived neurons in drug screening for neurological diseases. Neurobiology of aging\| PubMed ID: 30925301	2019
Preparation of iPSCs for Targeted Proteomic Analysis. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 31124110	2019
Measurement of Bile Acids as a Marker of the Functionality of iPSC-Derived Hepatocytes. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 31124111	2019
Mass Spectrometry Measurement of Albumin-Alpha Fetoprotein Ratio as an Indicator of iPSC-Derived Hepatocyte Differentiation. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 31124112	2019
Seeding Induced Pluripotent Stem Cell-Derived Neurons onto 384-Well Plates. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 31124113	2019
High-Content Autophagy Analysis in iPSC-Derived Neurons Using Immunofluorescence. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 31124114	2019
High-Content Analysis of Mitochondrial Function in iPSC-Derived Neurons. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 31124115	2019
Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses. Journal of inherited metabolic disease\| PubMed ID: 31452203	2020
Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment. Metabolites\| PubMed ID: 31718089	2019
Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy. Journal of cachexia, sarcopenia and muscle\| PubMed ID: 32031328	2020
Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation. Cell death and differentiation\| PubMed ID: 32341450	2020
Correction: Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation. Cell death and differentiation\| PubMed ID: 32409771	2020
Gene therapy for global brain diseases: one small step for mice, one giant leap for humans. Brain : a journal of neurology\| PubMed ID: 32671401	2020
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease. International journal of molecular sciences\| PubMed ID: 32709131	2020
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. Annals of neurology\| PubMed ID: 32808683	2020
Correction: Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation. Cell death and differentiation\| PubMed ID: 33041329	2021
Gene therapies targeting the liver. Journal of hepatology\| PubMed ID: 33071009	2021
Clinical Pharmacokinetics and Pharmacodynamics of Cerliponase Alfa, Enzyme Replacement Therapy for CLN2 Disease by Intracerebroventricular Administration. Clinical and translational science\| PubMed ID: 33202105	2021
An Whole-Organ Liver Engineering for Testing of Genetic Therapies. iScience\| PubMed ID: 33305175	2020
Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses. iScience\| PubMed ID: 33532713	2021
Clinical applications for exosomes: Are we there yet? British journal of pharmacology\| PubMed ID: 33751579	2021
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients. Orphanet journal of rare diseases\| PubMed ID: 33882967	2021
Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development. Biomolecules\| PubMed ID: 33924076	2021
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\| PubMed ID: 33980287	2021
An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy. Eye (London, England)\| PubMed ID: 34272513	2021
Correction: An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy. Eye (London, England)\| PubMed ID: 34385699	2021
Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C. Journal of neurology\| PubMed ID: 34387740	2022
Rab35 controls formation of luminal projections required for bile canalicular morphogenesis. The Journal of cell biology\| PubMed ID: 34515738	2021
A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C. Children (Basel, Switzerland)\| PubMed ID: 34572251	2021
Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys. Molecular therapy. Methods & clinical development\| PubMed ID: 34703837	2021
The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges. Genes\| PubMed ID: 34828443	2021
Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment. F1000Research\| PubMed ID: 35106137	2021
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\| PubMed ID: 35164809	2022