Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle.

Autor: John P Grady, Julie L Murphy, Emma L Blakely, Ronald G Haller, Robert W Taylor, Doug M Turnbull, Helen A L Tuppen

Publikováno v: PLoS ONE, Vol 9, Iss 12, p e114462 (2014)

Accurate and reliable quantification of the abundance of mitochondrial DNA (mtDNA) molecules, both wild-type and those harbouring pathogenic mutations, is important not only for understanding the progression of mtDNA disease but also for evaluating n

Externí odkaz: https://doaj.org/article/8f14fba5037e4c96a0114c05001ae289

OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases

Autor: Gabriel Sturm, Kalpita R. Karan, Anna S. Monzel, Balaji Santhanam, Tanja Taivassalo, Céline Bris, Sarah A. Ware, Marissa Cross, Atif Towheed, Albert Higgins-Chen, Meagan J. McManus, Andres Cardenas, Jue Lin, Elissa S. Epel, Shamima Rahman, John Vissing, Bruno Grassi, Morgan Levine, Steve Horvath, Ronald G. Haller, Guy Lenaers, Douglas C. Wallace, Marie-Pierre St-Onge, Saeed Tavazoie, Vincent Procaccio, Brett A. Kaufman, Erin L. Seifert, Michio Hirano, Martin Picard

Publikováno v: Communications Biology, Vol 6, Iss 1, Pp 1-22 (2023)

A meta-analysis of 17 cohorts of mitochondrial disease patients reveals that OxPhos defects are associated with signs of hypermetabolism. Experiments in patient-derived fibroblast show that mitochondrial OxPhos defects trigger hypermetabolism in a ce

Externí odkaz: https://doaj.org/article/8f3a6949c7834f1f9cf472f8feac04b2

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy

Autor: Fernando Scaglia, Bruce H. Cohen, Zarazuela Zolkipli-Cunningham, Perry B. Shieh, Jerry Vockley, Colin Meyer, Megan O'Grady, Angela Goldsberry, Amel Karaa, Amy Goldstein, Mary Kay Koenig, Karen Lindhardt Madsen, Astrid Emilie Buch, John Vissing, Ronald G. Haller, Marni J. Falk, Colleen C. Muraresku

Publikováno v: Neurology

ObjectiveTo investigate the safety and efficacy of escalating doses of the semi-synthetic triterpenoid omaveloxolone in patients with mitochondrial myopathy.MethodsIn cohorts of 8–13, 53 participants were randomized double-blind to 12 weeks of trea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::353d8ed7c1b8440baf1ce664bf5d7434
https://doi.org/10.1212/wnl.0000000000008861

Hyperpolarized 13C MR Spectroscopy Depicts in Vivo Effect of Exercise on Pyruvate Metabolism in Human Skeletal Muscle

Autor: Crystal Harrison, Avneesh Chhabra, Craig R. Malloy, Ronald G. Haller, Jun Chen, Junjie Ma, Jae Mo Park, Galen D. Reed, Zungho Zun, Jeff Liticker, James Ratnakar, Thomas Jue

Publikováno v: Radiology, vol 300, iss 3
Radiology

BACKGROUND: Pyruvate dehydrogenase (PDH) and lactate dehydrogenase are essential for adenosine triphosphate production in skeletal muscle. At the onset of exercise, oxidation of glucose and glycogen is quickly enabled by dephosphorylation of PDH. How

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aaa68428d7e32f6461135d4d6682029
https://escholarship.org/uc/item/6rj924w1

Results of an open label feasibility study of sodium valproate in people with McArdle disease

Autor: Thomas Krag, Ronald G. Haller, Ralph Wigley, Caroline Sewry, Richard Godfrey, George Samandouras, Paul Bassett, John Vissing, Jatin Pattni, Janice L. Holton, Karen Lindhardt Madsen, Zuzanna Michalak, Renata S Scalco, Christoffer Rasmus Vissing, Mads Godtfeldt Stemmerik, Ros Quinlivan, Nicoline Løkken

Publikováno v: Scalco, R S, Stemmerik, M, Løkken, N, Vissing, C R, Madsen, K L, Michalak, Z, Pattni, J, Godfrey, R, Samandouras, G, Bassett, P, Holton, J L, Krag, T, Haller, R G, Sewry, C, Wigley, R, Vissing, J & Quinlivan, R 2020, ' Results of an open label feasibility study of sodium valproate in people with McArdle disease ', Neuromuscular Disorders, vol. 30, no. 9, pp. 734-741 . https://doi.org/10.1016/j.nmd.2020.04.009

McArdle disease results from a lack of muscle glycogen phosphorylase in skeletal muscle tissue. Regenerating skeletal muscle fibres can express the brain glycogen phosphorylase isoenzyme. Stimulating expression of this enzyme could be a therapeutic s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d88de2b5e59af000ecdd4a2ca9f2c612
https://bura.brunel.ac.uk/handle/2438/26673