Laurence A. Bindoff Biography Publications JoVE Articles Laurence A. Bindoff has not added a biography. If you are Laurence A. Bindoff and would like to personalize this page please email our Author Liaison for assistance. Publications POLG Genotype Influences Degree of Mitochondrial Dysfunction in IPSC Derived Neural Progenitors, but Not the Parent IPSC or Derived Glia Experimental Neurology. Jul, 2023 | Pubmed ID: 37105450 Corrigendum to "The Spectrum of Pyridoxine Dependent Epilepsy Across the Age Span: A Nationwide Retrospective Observational Study" [Epilepsy Res. 190 (2023) 107099] Epilepsy Research. Mar, 2023 | Pubmed ID: 36906427 The Spectrum of Pyridoxine Dependent Epilepsy Across the Age Span: A Nationwide Retrospective Observational Study Epilepsy Research. Feb, 2023 | Pubmed ID: 36731270 Epidemiology and Natural History in 101 Subjects with FKRP-related Limb-girdle Muscular Dystrophy R9. The Norwegian LGMDR9 Cohort Study (2020) Neuromuscular Disorders : NMD. Feb, 2023 | Pubmed ID: 36522254 Phenotypic Spectrum and Clinical Course of Single Large-scale Mitochondrial DNA Deletion Disease in the Paediatric Population: a Multicentre Study Journal of Medical Genetics. Jan, 2023 | Pubmed ID: 34872991 Musculoskeletal Chronic Graft Versus Host Disease-A Rare Complication to Allogeneic Hematopoietic Stem Cell Transplant: A Case-Based Report and Review of the Literature Current Oncology (Toronto, Ont.). Nov, 2022 | Pubmed ID: 36354723 Comparing the Mitochondrial Signatures in ESCs and IPSCs and Their Neural Derivations Cell Cycle (Georgetown, Tex.). Oct, 2022 | Pubmed ID: 35815665 Renal Phenotype in Mitochondrial Diseases: A Multicenter Study Kidney Diseases (Basel, Switzerland). Mar, 2022 | Pubmed ID: 35527992 Mutations Lead to Abnormal Mitochondrial Remodeling During Neural Differentiation of Human Pluripotent Stem Cells Via SIRT3/AMPK Pathway Inhibition Cell Cycle (Georgetown, Tex.). Jun, 2022 | Pubmed ID: 35298342 Distinct Mitochondrial Remodeling During Mesoderm Differentiation in a Human-Based Stem Cell Model Frontiers in Cell and Developmental Biology. 2021 | Pubmed ID: 34722525 Expanding the Phenotypic Spectrum of BCS1L-related Mitochondrial Disease Annals of Clinical and Translational Neurology. Oct, 2021 | Pubmed ID: 34662929 Nicotinamide Riboside and Metformin Ameliorate Mitophagy Defect in Induced Pluripotent Stem Cell-Derived Astrocytes With Mutations Frontiers in Cell and Developmental Biology. 2021 | Pubmed ID: 34631714 Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish Frontiers in Molecular Neuroscience. 2021 | Pubmed ID: 34630034 Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration Biomedicines. Jul, 2021 | Pubmed ID: 34356897 Mitochondrial Disease in Adults: Recent Advances and Future Promise The Lancet. Neurology. 07, 2021 | Pubmed ID: 34146515 Genetic Dominant Variants in Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16 International Journal of Molecular Sciences. May, 2021 | Pubmed ID: 34070858 Genotype-phenotype Correlations and Novel Molecular Insights into the DHX30-associated Neurodevelopmental Disorders Genome Medicine. May, 2021 | Pubmed ID: 34020708 A Characteristic Occipital Epileptiform EEG Pattern in ADCK3-related Mitochondrial Disease Epileptic Disorders : International Epilepsy Journal with Videotape. Apr, 2021 | Pubmed ID: 33881396 In-frame Deletion in Canine PITRM1 is Associated with a Severe Early-onset Epilepsy, Mitochondrial Dysfunction and Neurodegeneration Human Genetics. Nov, 2021 | Pubmed ID: 33835239 Serum Biomarkers in Primary Mitochondrial Disorders Brain Communications. 2021 | Pubmed ID: 33501425 N-acetylcysteine Amide Ameliorates Mitochondrial Dysfunction and Reduces Oxidative Stress in HiPSC-derived Dopaminergic Neurons with POLG Mutation Experimental Neurology. 03, 2021 | Pubmed ID: 33264635 Comment on "A Severe Linezolid-induced Rhabdomyolysis and Lactic Acidosis in Leigh Syndrome" Journal of Inherited Metabolic Disease. 01, 2021 | Pubmed ID: 33159463 A Method for Differentiating Human Induced Pluripotent Stem Cells Toward Functional Cardiomyocytes in 96-well Microplates Scientific Reports. 10, 2020 | Pubmed ID: 33116175 Mental Health and Health Related Quality of Life in Mitochondrial POLG Disease Mitochondrion. 11, 2020 | Pubmed ID: 32976988 The Impact of Gender, Puberty, and Pregnancy in Patients with POLG Disease Annals of Clinical and Translational Neurology. 10, 2020 | Pubmed ID: 32949115 Disease-specific Phenotypes in IPSC-derived Neural Stem Cells with POLG Mutations EMBO Molecular Medicine. 10, 2020 | Pubmed ID: 32840960 Using Urine to Diagnose Large-scale MtDNA Deletions in Adult Patients Annals of Clinical and Translational Neurology. 08, 2020 | Pubmed ID: 32634300 Simplifying the Clinical Classification of Polymerase Gamma (POLG) Disease Based on Age of Onset; Studies Using a Cohort of 155 Cases Journal of Inherited Metabolic Disease. 07, 2020 | Pubmed ID: 32391929 A Hospital Based Epidemiological Study of Genetically Determined Muscle Disease in South Western Norway Neuromuscular Disorders : NMD. 03, 2020 | Pubmed ID: 32146000 Patient-specific Neural Progenitor Cells Derived from Induced Pluripotent Stem Cells Offer a Promise of Good Models for Mitochondrial Disease Cell and Tissue Research. Apr, 2020 | Pubmed ID: 31925525 Mitochondrial Complex IV is Lost in Neurons in the Cuprizone Mouse Model Mitochondrion. 01, 2020 | Pubmed ID: 31678601 Metabolic Reprogramming of Normal Oral Fibroblasts Correlated with Increased Glycolytic Metabolism of Oral Squamous Cell Carcinoma and Precedes Their Activation into Carcinoma Associated Fibroblasts Cellular and Molecular Life Sciences : CMLS. Mar, 2020 | Pubmed ID: 31270582 Consensus-based Statements for the Management of Mitochondrial Stroke-like Episodes Wellcome Open Research. 2019 | Pubmed ID: 32090171 No Effect of Electrical Transcranial Direct Current Stimulation Adjunct Treatment for Epilepsia Partialis Continua in POLG Disease Epilepsy & Behavior Reports. 2019 | Pubmed ID: 31737865 Fever-related Ataxia: a Case Report of CAPOS Syndrome Cerebellum & Ataxias. 2019 | Pubmed ID: 31410291 Fibroblasts Rescue Oral Squamous Cancer Cell from Metformin-induced Apoptosis Via Alleviating Metabolic Disbalance and Inhibiting AMPK Pathway Cell Cycle (Georgetown, Tex.). 05, 2019 | Pubmed ID: 31014173 Mitochondrial DNA Depletion in Sporadic Inclusion Body Myositis Neuromuscular Disorders : NMD. 03, 2019 | Pubmed ID: 30850168 Correction: The Clinical Spectrum and Natural History of Early-onset Diseases Due to DNA Polymerase Gamma Mutations Genetics in Medicine : Official Journal of the American College of Medical Genetics. 04, 2019 | Pubmed ID: 30228318 Dissecting the Neuronal Vulnerability Underpinning Alpers' Syndrome: a Clinical and Neuropathological Study Brain Pathology (Zurich, Switzerland). 01, 2019 | Pubmed ID: 30021052 Elevated Cerebrospinal Fluid Protein in POLG-related Epilepsy: Diagnostic and Prognostic Implications Epilepsia. 08, 2018 | Pubmed ID: 29920680 Mitochondrial Ataxias Handbook of Clinical Neurology. 2018 | Pubmed ID: 29891055 A De Novo Ser111Thr Variant in Aquaporin-4 in a Patient with Intellectual Disability, Transient Signs of Brain Ischemia, Transient Cardiac Hypertrophy, and Progressive Gait Disturbance Cold Spring Harbor Molecular Case Studies. 02, 2018 | Pubmed ID: 29437797 3,3'-Diaminobenzidine Staining Interferes with PCR-based DNA Analysis Scientific Reports. 01, 2018 | Pubmed ID: 29352159 Neurofilament Light Chain Predicts Disease Activity in Relapsing-remitting MS Neurology(R) Neuroimmunology & Neuroinflammation. Jan, 2018 | Pubmed ID: 29209636 Phenotype-genotype Correlations in Leigh Syndrome: New Insights from a Multicentre Study of 96 Patients Journal of Medical Genetics. Jan, 2018 | Pubmed ID: 29101127 Erratum To: The Presence of Anaemia Negatively Influences Survival in Patients with POLG Disease Journal of Inherited Metabolic Disease. 01, 2018 | Pubmed ID: 28952135 The Presence of Anaemia Negatively Influences Survival in Patients with POLG Disease Journal of Inherited Metabolic Disease. 11, 2017 | Pubmed ID: 28865037 Understanding the Epilepsy in POLG Related Disease International Journal of Molecular Sciences. Aug, 2017 | Pubmed ID: 28837072 The Clinical Spectrum and Natural History of Early-onset Diseases Due to DNA Polymerase Gamma Mutations Genetics in Medicine : Official Journal of the American College of Medical Genetics. 11, 2017 | Pubmed ID: 28471437 Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy JAMA Neurology. 06, 2017 | Pubmed ID: 28395030 GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies PloS One. 2017 | Pubmed ID: 28052128 Increased Levels of Cell-free Mitochondrial DNA in the Cerebrospinal Fluid of Patients with Multiple Sclerosis Mitochondrion. 05, 2017 | Pubmed ID: 28017684 No Evidence of Ischemia in Stroke-like Lesions of Mitochondrial POLG Encephalopathy Mitochondrion. Jan, 2017 | Pubmed ID: 27838477 Defective Mitochondrial DNA Homeostasis in the Substantia Nigra in Parkinson Disease Nature Communications. 11, 2016 | Pubmed ID: 27874000 A Heterozygous 21-bp Deletion in CAPN3 Causes Dominantly Inherited Limb Girdle Muscular Dystrophy Brain : a Journal of Neurology. 08, 2016 | Pubmed ID: 27259757 Mitochondrial DNA Homeostasis is Essential for Nigrostriatal Integrity Mitochondrion. 05, 2016 | Pubmed ID: 26979109 Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy PloS One. 2016 | Pubmed ID: 26863430 Nigrostriatal Denervation Sine Parkinsonism Brain : a Journal of Neurology. Apr, 2016 | Pubmed ID: 26811251 Mitochondrial DNA Sequence Characteristics Modulate the Size of the Genetic Bottleneck Human Molecular Genetics. Mar, 2016 | Pubmed ID: 26740552 Defective PITRM1 Mitochondrial Peptidase is Associated with Aβ Amyloidotic Neurodegeneration EMBO Molecular Medicine. Mar, 2016 | Pubmed ID: 26697887 Fatal Infantile Mitochondrial Encephalomyopathy, Hypertrophic Cardiomyopathy and Optic Atrophy Associated with a Homozygous OPA1 Mutation Journal of Medical Genetics. Feb, 2016 | Pubmed ID: 26561570 Brain Catecholamine Depletion and Motor Impairment in a Th Knock-in Mouse with Type B Tyrosine Hydroxylase Deficiency Brain : a Journal of Neurology. Oct, 2015 | Pubmed ID: 26276013 HTRA2 P.G399S in Parkinson Disease, Essential Tremor, and Tremulous Cervical Dystonia Proceedings of the National Academy of Sciences of the United States of America. May, 2015 | Pubmed ID: 25825781 Genetic and Hypoxic Alterations of the MicroRNA-210-ISCU1/2 Axis Promote Iron-sulfur Deficiency and Pulmonary Hypertension EMBO Molecular Medicine. Jun, 2015 | Pubmed ID: 25825391 High Myopia-excavated Optic Disc Anomaly Associated with a Frameshift Mutation in the MYC-binding Protein 2 Gene (MYCBP2) American Journal of Ophthalmology. May, 2015 | Pubmed ID: 25634536 Defective I6A37 Modification of Mitochondrial and Cytosolic TRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate TRNA PLoS Genetics. Jun, 2014 | Pubmed ID: 24901367 Molecular Pathogenesis of Polymerase γ-related Neurodegeneration Annals of Neurology. Jul, 2014 | Pubmed ID: 24841123 A Multicenter Study on Leigh Syndrome: Disease Course and Predictors of Survival Orphanet Journal of Rare Diseases. Apr, 2014 | Pubmed ID: 24731534 New Treatments for Mitochondrial Disease-no Time to Drop Our Standards Nature Reviews. Neurology. Aug, 2013 | Pubmed ID: 23817350 Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay PloS One. 2013 | Pubmed ID: 23785480 Progressive Striatal Necrosis Associated with Anti-NMDA Receptor Antibodies BMC Neurology. May, 2013 | Pubmed ID: 23725534 MRI Characterisation of Adult Onset Alpha-methylacyl-coA Racemase Deficiency Diagnosed by Exome Sequencing Orphanet Journal of Rare Diseases. Jan, 2013 | Pubmed ID: 23286897 What is Influencing the Phenotype of the Common Homozygous Polymerase-γ Mutation P.Ala467Thr? Brain : a Journal of Neurology. Dec, 2012 | Pubmed ID: 23250882 Number of CAG Repeats in POLG1 and Its Association with Parkinson Disease in the Norwegian Population Mitochondrion. Nov, 2012 | Pubmed ID: 22963882 Mitochondrial Function and Pathology in Status Epilepticus Epilepsia. Oct, 2011 | Pubmed ID: 21967349 FGF-21 As a Biomarker for Muscle-manifesting Mitochondrial Respiratory Chain Deficiencies: a Diagnostic Study The Lancet. Neurology. Sep, 2011 | Pubmed ID: 21820356 Rhabdomyolysis After Group C Streptococcal Infection Infectious Disease Reports. Aug, 2010 | Pubmed ID: 24470895 Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism American Journal of Human Genetics. Sep, 2010 | Pubmed ID: 20797687 OPA1 Mutations Cause Cytochrome C Oxidase Deficiency Due to Loss of Wild-type MtDNA Molecules Human Molecular Genetics. Aug, 2010 | Pubmed ID: 20484224 Differences in RNA Processing Underlie the Tissue Specific Phenotype of ISCU Myopathy Biochimica Et Biophysica Acta. Jun, 2010 | Pubmed ID: 20206689 A Novel Mitochondrial ND5 (MTND5) Gene Mutation Giving Isolated Exercise Intolerance Neuromuscular Disorders : NMD. Apr, 2008 | Pubmed ID: 18396045 POLG1 Mutations Cause a Syndromic Epilepsy with Occipital Lobe Predilection Brain : a Journal of Neurology. Mar, 2008 | Pubmed ID: 18238797 The Spectrum of Clinical Disease Caused by the A467T and W748S POLG Mutations: a Study of 26 Cases Brain : a Journal of Neurology. Jul, 2006 | Pubmed ID: 16638794 Mitochondrial DNA Polymerase W748S Mutation: a Common Cause of Autosomal Recessive Ataxia with Ancient European Origin American Journal of Human Genetics. Sep, 2005 | Pubmed ID: 16080118 Application of Flow Cytometric Analysis for Measuring Multiple Mitochondrial Parameters in 3D Brain Organoids JoVE 65621 Neurosciences Analisi citometrica a flusso di parametri mitocondriali multipli in cellule staminali pluripotenti indotte umane e loro derivati neurali e gliali Kristina Xiao Liang*1,2, Anbin Chen*1,2,3,4, Cecilie Katrin Kristiansen1,2, Laurence A. Bindoff1,2 1Department of Clinical Medicine (K1), University of Bergen, 2Neuro-SysMed, Center of Excellence for Clinical Research in Neurological Diseases, Haukeland University Hospital, 3Department of Neurosurgery, Qilu Hospital and Institute of Brain and Brain-Inspired Science, Cheeloo College of Medicine, Shandong University, 4Shandong Key Laboratory of Brain Function Remodeling JoVE 63116 Neurosciences
Application of Flow Cytometric Analysis for Measuring Multiple Mitochondrial Parameters in 3D Brain Organoids JoVE 65621 Neurosciences
Analisi citometrica a flusso di parametri mitocondriali multipli in cellule staminali pluripotenti indotte umane e loro derivati neurali e gliali Kristina Xiao Liang*1,2, Anbin Chen*1,2,3,4, Cecilie Katrin Kristiansen1,2, Laurence A. Bindoff1,2 1Department of Clinical Medicine (K1), University of Bergen, 2Neuro-SysMed, Center of Excellence for Clinical Research in Neurological Diseases, Haukeland University Hospital, 3Department of Neurosurgery, Qilu Hospital and Institute of Brain and Brain-Inspired Science, Cheeloo College of Medicine, Shandong University, 4Shandong Key Laboratory of Brain Function Remodeling JoVE 63116 Neurosciences
