Paul Gissen

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

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

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

Perinatal systemic gene delivery using adeno-associated viral vectors.

Polymorphisms in ABCB11 and ATP8B1 Associated with Development of Severe Intrahepatic Cholestasis in Hodgkin's Lymphoma.

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

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

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

Hepatic regenerative medicine.

Structural and functional hepatocyte polarity and liver disease.

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

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

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

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

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

The CHEVI tethering complex: facilitating special deliveries.

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

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

Vps33b is crucial for structural and functional hepatocyte polarity.

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

Expanding the phenotype in argininosuccinic aciduria: need for new therapies.

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

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

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

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.

Lamin and the heart.

Oculomotor abnormalities in children with Niemann-Pick type C.

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

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

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

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

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

Age-Related Seroprevalence of Antibodies Against AAV-LK03 in a UK Population Cohort.

Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3.

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.

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

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

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.

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

Preparation of iPSCs for Targeted Proteomic Analysis.

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

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

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

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

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

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

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

Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy.

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.

Gene therapy for global brain diseases: one small step for mice, one giant leap for humans.

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

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.

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

Gene therapies targeting the liver.

Clinical Pharmacokinetics and Pharmacodynamics of Cerliponase Alfa, Enzyme Replacement Therapy for CLN2 Disease by Intracerebroventricular Administration.

An Whole-Organ Liver Engineering for Testing of Genetic Therapies.

Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses.

Clinical applications for exosomes: Are we there yet?

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.

Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development.

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).

An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy.

Correction: An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy.

Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C.

Rab35 controls formation of luminal projections required for bile canalicular morphogenesis.

A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C.

Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys.

The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.

Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment.

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).