Hallmark Molecular and Pathological Features of POLG Disease are Recapitulated in Cerebral Organoids

Authors: Anbin Chen, Tsering Yangzom, Yu Hong, Bjørn Christian Lundberg, Gareth John Sullivan, Charalampos Tzoulis, Laurence A. Bindoff, Kristina Xiao Liang

Source: Advanced Science, Vol 11, Iss 18, Pp n/a-n/a (2024)

Subject Terms: cortical organoids, iPSC, mitochondrial function, neuron, POLG, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2198-3844

Access URL: https://doaj.org/article/c1091475b6fa4da18c0883fa0bf68dff

Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study

Authors: Vibeke Arntsen, Ahmed Jamali, Alma Sikiric, Erle Kristensen, Trine Tangeraas, Guste Kupliauskiene, Sigurbjörg Stefansdottir, Laurence A. Bindoff, Trond Sand, Eylert Brodtkorb

Source: Frontiers in Neurology, Vol 15 (2024)

Subject Terms: pyridoxine, epilepsy, ALDH7A1, EEG, burst suppression, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1355861/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/8b7fc35a330d49a5adc8ef20706fa65d

PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients

Authors: Alessia Di Donfrancesco, Christian Berlingieri, Marta Giacomello, Chiara Frascarelli, Ana Paula Magalhaes Rebelo, Laurence A. Bindoff, Segel Reeval, Paul Renbaum, Filippo M. Santorelli, Giulia Massaro, Carlo Viscomi, Massimo Zeviani, Daniele Ghezzi, Emanuela Bottani, Dario Brunetti

Source: Frontiers in Pharmacology, Vol 14 (2023)

Subject Terms: cerebellar ataxia, mitochondrial disease, proteostasis, pioglitazone, neurodegenaration, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2023.1220620/full; https://doaj.org/toc/1663-9812

Access URL: https://doaj.org/article/a234703503564db9b218a1bf2199630d

Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

Authors: Maria Parasyri, Per Brandström, Johanna Uusimaa, Elsebet Ostergaard, Omar Hikmat, Pirjo Isohanni, Karin Naess, I.F.M. de Coo, Andrés Nascimento Osorio, Matti Nuutinen, Christopher Lindberg, Laurence A. Bindoff, Már Tulinius, Niklas Darin, Kalliopi Sofou

Source: Kidney Diseases, Vol 8, Iss 2, Pp 137-148 (2022)

Subject Terms: mitochondrial disease, acute kidney injury, mitochondrial dna, renal manifestations, Internal medicine, RC31-1245

File Description: electronic resource

Relation: https://www.karger.com/Article/FullText/521148; https://doaj.org/toc/2296-9381; https://doaj.org/toc/2296-9357

Access URL: https://doaj.org/article/3ee2e812910448329c59438092ef3013

Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease

Authors: Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P. Ferla, Elisa Fassone, Mary‐Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry Houlden, Federica Invernizzi, Nazreen B. Kamarus Jaman, Manju A. Kurian, Eva Morava, Karin Naess, Juan Darío Ortigoza‐Escobar, Sumit Parikh, Alessandra Pennisi, Giulia Barcia, Karin B. Tylleskär, Damien Brackman, Saskia B. Wortmann, Jenny C. Taylor, Laurence A. Bindoff, Vineta Fellman, Shamima Rahman

Source: Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2155-2165 (2021)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/7ea99688d16d4beba2c9f25ff13dc276

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Authors: Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel

Source: Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/c447334b912746929ee920eb4139f48f

The impact of gender, puberty, and pregnancy in patients with POLG disease

Authors: Omar Hikmat, Karin Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Chantal M. E. Tallaksen, Christian Samsonsen, Eylert Brodtkorb, Elsebet Ostergaard, Rene de Coo, Leticia Pias‐Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Niklas Darin, Shamima Rahman, Laurence A. Bindoff

Source: Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 2019-2025 (2020)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/e138e62d2745491f9053735c2db70e67

Using urine to diagnose large‐scale mtDNA deletions in adult patients

Authors: Kristin N. Varhaug, Gonzalo S. Nido, Irenaeus deCoo, Pirjo Isohanni, Anu Suomalainen, Charalampos Tzoulis, Per Knappskog, Laurence A. Bindoff

Source: Annals of Clinical and Translational Neurology, Vol 7, Iss 8, Pp 1318-1326 (2020)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/3e72b7fd710c4ee99a5e5785ae11b6f4

Distinct Mitochondrial Remodeling During Mesoderm Differentiation in a Human-Based Stem Cell Model

Authors: Sepideh Mostafavi, Novin Balafkan, Ina Katrine Nitschke Pettersen, Gonzalo S. Nido, Richard Siller, Charalampos Tzoulis, Gareth J. Sullivan, Laurence A. Bindoff

Source: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

Subject Terms: mitochondria, development, metabolism, stem cells, cardiomyocyte, OXPHOS, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2021.744777/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/e22044775e98443d8c641f0853982412

Nicotinamide Riboside and Metformin Ameliorate Mitophagy Defect in Induced Pluripotent Stem Cell-Derived Astrocytes With POLG Mutations

Authors: Anbin Chen, Cecilie Katrin Kristiansen, Yu Hong, Atefeh Kianian, Evandro Fei Fang, Gareth John Sullivan, Jian Wang, Xingang Li, Laurence A. Bindoff, Kristina Xiao Liang

Source: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

Subject Terms: mitophagy, astrocytes, POLG, IPSC (induced pluripotent stem cells), nicotinamide riboside (NR), metformin, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2021.737304/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/2a4dff71cdaf47aab7ed7d5d5242e062

Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish

Authors: Yasaman Pakdaman, Elsa Denker, Eirik Austad, William H. J. Norton, Hans O. Rolfsnes, Laurence A. Bindoff, Charalampos Tzoulis, Ingvild Aukrust, Per M. Knappskog, Stefan Johansson, Ståle Ellingsen

Source: Frontiers in Molecular Neuroscience, Vol 14 (2021)

Subject Terms: CHIP, STUB1, SCAR16, zebrafish, Purkinje cells, anxiety-like behavior, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2021.723912/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/f12cb49d57274e40a709da144728f948

Consensus-based statements for the management of mitochondrial stroke-like episodes [version 1; peer review: 2 approved]

Authors: Yi Shiau Ng, Laurence A. Bindoff, Gráinne S. Gorman, Rita Horvath, Thomas Klopstock, Michelangelo Mancuso, Mika H. Martikainen, Robert Mcfarland, Victoria Nesbitt, Robert D. S. Pitceathly, Andrew M. Schaefer, Doug M. Turnbull

Source: Wellcome Open Research, Vol 4 (2019)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://wellcomeopenresearch.org/articles/4-201/v1; https://doaj.org/toc/2398-502X

Access URL: https://doaj.org/article/25b451bec90b4c3ab265f9e6984ed32a

Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration

Authors: Dario Brunetti, Alessia Catania, Carlo Viscomi, Michela Deleidi, Laurence A. Bindoff, Daniele Ghezzi, Massimo Zeviani

Source: Biomedicines, Vol 9, Iss 7, p 833 (2021)

Subject Terms: PITRM1, pitrilysin metallopeptidase 1, mitochondrial proteostasis, Alzheimer Disease, neurodegeneration, neurodegenerative diseases, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9059/9/7/833; https://doaj.org/toc/2227-9059

Access URL: https://doaj.org/article/d9fae70941bc43319291ab3dc746e3f4

Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease

Authors: Christian Dölle, Irene Flønes, Gonzalo S. Nido, Hrvoje Miletic, Nelson Osuagwu, Stine Kristoffersen, Peer K. Lilleng, Jan Petter Larsen, Ole-Bjørn Tysnes, Kristoffer Haugarvoll, Laurence A. Bindoff, Charalampos Tzoulis

Source: Nature Communications, Vol 7, Iss 1, Pp 1-11 (2016)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/6ae491ca574a451db80eeeb0e7e8d4ae

No effect of electrical transcranial direct current stimulation adjunct treatment for epilepsia partialis continua in POLG disease

Authors: Lynn Marquardt, Tom Eichele, Laurence A. Bindoff, Henning Kristian Olberg, Gyri Veiby, Heike Eichele, Isabella Kusztrits, Marco Hirnstein

Source: Epilepsy & Behavior Reports, Vol 12, Iss , Pp - (2019)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429, Neurophysiology and neuropsychology, QP351-495

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589986419301133; https://doaj.org/toc/2589-9864

Access URL: https://doaj.org/article/a0ca948a1c794d9eb86ca83b57e7dd45

Flow Cytometric Analysis of Multiple Mitochondrial Parameters in Human Induced Pluripotent Stem Cells and Their Neural and Glial Derivatives

Authors: Kristina Xiao Liang, author^{1, 2}, Anbin Chen, author^{1, 2, 3, 4}, Cecilie Katrin Kristiansen, author^{1, 2}, Laurence A. Bindoff, author^{1, 2}

Source: Journal of Visualized Experiments. (177)

Availability: http://www.jove.com/video/63116

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The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

Authors: Charalampos Tzoulis, Bernt A. Engelsen, Wenche Telstad, Jan Aasly, Massimo Zeviani, Synnøve Winterthun, Gianfrancesco Ferrari, Jan H. Aarseth, Laurence A. Bindoff

Source: Brain: A Journal of Neurology; Jul2006, Vol. 129 Issue 7, p1685-1692, 8p

Phenotype modulators in myophosphorylase deficiency.

Authors: Andrea Martinuzzi, Elena Sartori, Marina Fanin, Annachiara Nascimbeni, Lucia Valente, Corrado Angelini, Gabriele Siciliano, Tiziana Mongini, Paola Tonin, Giuliano Tomelleri, Antonio Toscano, Luciano Merlini, Laurence A. Bindoff, Stefano Bertelli

Source: Annals of Neurology; Apr2003, Vol. 53 Issue 4, p497-502, 6p