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Results: 6
Metabolic effects of bezafibrate in mitochondrial disease.
Hannah Steele, Aurora Gomez-Duran, Angela Pyle, Sila Hopton, Jane Newman, Renae J Stefanetti, Sarah J Charman, Jehill D Parikh, Langping He, Carlo Viscomi, Djordje G Jakovljevic, Kieren G Hollingsworth, Alan J Robinson, Robert W Taylor, Leonardo Bottolo, Rita Horvath, Patrick F Chinnery
Mar 30, 2020
Published by: EMBO molecular medicine
LAG3 is not expressed in human and murine neurons and does not modulate α‐synucleinopathies
Marc Emmenegger, Elena De Cecco, Marian Hruska‐Plochan, Timo Eninger, Matthias M Schneider, Melanie Barth, Elena Tantardini, Pierre de Rossi, Mehtap Bacioglu, Rebekah G Langston, Alice Kaganovich, Nora Bengoa‐Vergniory, Andrès Gonzalez‐Guerra, Merve Avar, Daniel Heinzer, Regina Reimann, Lisa M Häsler, Therese W Herling, Naunehal S Matharu, Natalie Landeck, Kelvin Luk, Ronald Melki, Philipp J Kahle, Simone Hornemann, Tuomas P J Knowles, Mark R Cookson, Magdalini Polymenidou, Mathias Jucker, Adriano Aguzzi
Jul 28, 2021
Published by: EMBO molecular medicine
Fragmentation patterns and personalized sequencing of cell‐free DNA in urine and plasma of glioma patients
Florent Mouliere, Christopher G Smith, Katrin Heider, Jing Su, Ymke van der Pol, Mareike Thompson, James Morris, Jonathan C M Wan, Dineika Chandrananda, James Hadfield, Marta Grzelak, Irena Hudecova, Dominique‐Laurent Couturier, Wendy Cooper, Hui Zhao, Davina Gale, Matthew Eldridge, Colin Watts, Kevin Brindle, Nitzan Rosenfeld, Richard Mair
Jul 28, 2021
EMBO02 EMBO03 article ARTICLES cell‐free DNA Circulating Tumor DNA fragmentomics gliomas Liquid biopsy
Published by: EMBO molecular medicine
Fragmentation patterns and personalized sequencing of cell-free DNA in urine and plasma of glioma patients.
Florent Mouliere, Christopher G Smith, Katrin Heider, Jing Su, Ymke van der Pol, Mareike Thompson, James Morris, Jonathan C M Wan, Dineika Chandrananda, James Hadfield, Marta Grzelak, Irena Hudecova, Dominique-Laurent Couturier, Wendy Cooper, Hui Zhao, Davina Gale, Matthew Eldridge, Colin Watts, Kevin Brindle, Nitzan Rosenfeld, Richard Mair
Aug 26, 2021
Glioma-derived cell-free DNA (cfDNA) is challenging to detect using liquid biopsy because quantities in body fluids are low. We determined the glioma-derived DNA fraction in cerebrospinal fluid (CSF), plasma, and urine samples...
Published by: EMBO molecular medicine
High-throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts.
Emma Cretin, Priscilla Lopes, Elodie Vimont, Takashi Tatsuta, Thomas Langer, Anastasia Gazi, Martin Sachse, Patrick Yu-Wai-Man, Pascal Reynier, Timothy Wai
Jun 21, 2021
Mutations in OPA1 cause autosomal dominant optic atrophy (DOA) as well as DOA+, a phenotype characterized by more severe neurological deficits. OPA1 deficiency causes mitochondrial fragmentation and also disrupts cristae...
Published by: EMBO molecular medicine
High‐throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts
Emma Cretin, Priscilla Lopes, Elodie Vimont, Takashi Tatsuta, Thomas Langer, Anastasia Gazi, Martin Sachse, Patrick Yu‐Wai‐Man, Pascal Reynier, Timothy Wai
May 20, 2021
Abstract: Mutations in OPA1 cause autosomal dominant optic atrophy (DOA) as well as DOA+, a phenotype characterized by more severe neurological deficits. OPA1 deficiency causes mitochondrial fragmentation and also disrupts...
EMBO16 EMBO27 EMBO57 article ARTICLES Genetic modifiers high‐throughput screening Mitochondrial Dynamics OPA1 Phospholipid Metabolism
Published by: EMBO molecular medicine