Zobrazeno 1 - 10
of 459
pro vyhledávání: '"Michio Hirano"'
Autor:
Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce Cohen, Gregory M. Ennes, Marni J. Falk, Amy Goldstein, Gráinne Gorman, Richard Haas, Michio Hirano, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Costanza Lamperti, Anna Lehman, Nicola Longo, Maria Judit Molnar, Sumit Parikh, Han Phan, Robert D. S. Pitceathly, Russekk Saneto, Fernando Scaglia, Serenella Servidei, Mark Tarnopolsky, Antonio Toscano, Johan L. K. Van Hove, John Vissing, Jerry Vockley, Jeffrey S. Finman, Anthony Abbruscato, David A. Brown, Alana Sullivan, James A. Shiffer, Michelango Mancuso, on behalf of the MMPOWER-3 Trial Investigators
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background As previously published, the MMPOWER-3 clinical trial did not demonstrate a significant benefit of elamipretide treatment in a genotypically diverse population of adults with primary mitochondrial myopathy (PMM). However, the pres
Externí odkaz:
https://doaj.org/article/9ee65de424ba47d7a85aadc248d7ce12
Autor:
Weichen Zhou, Kalpita R Karan, Wenjin Gu, Hans-Ulrich Klein, Gabriel Sturm, Philip L De Jager, David A Bennett, Michio Hirano, Martin Picard, Ryan E Mills
Publikováno v:
PLoS Biology, Vol 22, Iss 8, p e3002723 (2024)
The transfer of mitochondrial DNA into the nuclear genomes of eukaryotes (Numts) has been linked to lifespan in nonhuman species and recently demonstrated to occur in rare instances from one human generation to the next. Here, we investigated numtoge
Externí odkaz:
https://doaj.org/article/eea7e63066f54cc38b1e1e976ca6657e
Autor:
John L. P. Thompson, Amel Karaa, Hung Pham, Philip Yeske, Jeffrey Krischer, Yi Xiao, Yuelin Long, Amanda Kramer, David Dimmock, Amy Holbert, Cliff Gorski, Kristin M. Engelstad, Richard Buchsbaum, Xiomara Q. Rosales, Michio Hirano
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Mitochondrial diseases often require multiple years and clinicians to diagnose. We lack knowledge of the stages of this diagnostic odyssey, and factors that affect it. Our goals are to report the results of the 2018 Odyssey2 (OD2)
Externí odkaz:
https://doaj.org/article/0ab8185a7bbc4e9d90ca43b00e093ccb
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
Autor:
Gabriel Sturm, Anna S. Monzel, Kalpita R. Karan, Jeremy Michelson, Sarah A. Ware, Andres Cardenas, Jue Lin, Céline Bris, Balaji Santhanam, Michael P. Murphy, Morgan E. Levine, Steve Horvath, Daniel W. Belsky, Shuang Wang, Vincent Procaccio, Brett A. Kaufman, Michio Hirano, Martin Picard
Publikováno v:
Scientific Data, Vol 9, Iss 1, Pp 1-19 (2022)
Measurement(s) gene expression assay • DNA Methylation • Telomere Length • Seahorse Bioenergetics • mtDNA copy number • Whole Genome Sequencing • Cytokine • cell-free DNA • mtDNA sequencing • cell-free GDF15 • cell-free IL6 Techno
Externí odkaz:
https://doaj.org/article/d6a7639344dc491583d7e15621e35c15
Autor:
Emily B. Leaffer, Darryl C. De Vivo, Kristin Engelstad, Robert H. Fryer, Yian Gu, Dikoma C. Shungu, Michio Hirano, Salvatore DiMauro, Veronica J. Hinton
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 6, Pp 841-852 (2022)
Abstract Objective To examine the correlation between verbal and visual memory function and correlation with brain metabolites (lactate and N‐Acetylaspartate, NAA) in individuals with mitochondrial encephalomyopathy, lactic acidosis, and stroke‐l
Externí odkaz:
https://doaj.org/article/45fd3d8c31dd4f0ea64be0a9714354ca
Autor:
Rebecca Koch, Claudia Soler-Alfonso, Bridget Kiely, Akihiro Asai, Ariana Smith, Deeksha Bali, Peter Kang, Andrew Landstrom, H. Orhan Akman, T. Andrew Burrow, Jennifer Orthmann-Murphy, Deberah Goldman, Surekha Pendyal, Areeg El-Gharbawy, Stephanie Austin, Laura Case, Raphael Schiffmann, Michio Hirano, Priya Kishnani
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100114- (2023)
Externí odkaz:
https://doaj.org/article/193ab1baaba843d9bdec0a40ad755c5d
Autor:
Cristina Domínguez-González, Marcos Madruga-Garrido, Michio Hirano, Itxaso Martí, Miguel A. Martín, Francina Munell, Andrés Nascimento, Montse Olivé, Joanne Quan, M. Dolores Sardina, Ramon Martí, Carmen Paradas
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondrial disease typically
Externí odkaz:
https://doaj.org/article/bfe4ecffca224605a27d21dd60389172
Autor:
John L. P. Thompson, Amel Karaa, Hung Pham, Philip Yeske, Jeffrey Krischer, Yi Xiao, Yuelin Long, Amanda Kramer, David Dimmock, Amy Holbert, Cliff Gorski, Kristin M. Engelstad, Richard Buchsbaum, Xiomara Q. Rosales, Michio Hirano
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/447b83e0075d4a2d9ba0757470bbe7d7
Autor:
Jonathan Shintaku, Wolfgang M. Pernice, Wafaa Eyaid, Jeevan B. GC, Zuben P. Brown, Marti Juanola-Falgarona, Javier Torres-Torronteras, Ewen W. Sommerville, Debby M.E.I. Hellebrekers, Emma L. Blakely, Alan Donaldson, Ingrid van de Laar, Cheng-Shiun Leu, Ramon Marti, Joachim Frank, Kurenai Tanji, David A. Koolen, Richard J. Rodenburg, Patrick F. Chinnery, H.J.M. Smeets, Gráinne S. Gorman, Penelope E. Bonnen, Robert W. Taylor, Michio Hirano
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 13 (2022)
Mitochondrial DNA (mtDNA) depletion/deletions syndromes (MDDS) encompass a clinically and etiologically heterogenous group of mitochondrial disorders caused by impaired mtDNA maintenance. Among the most frequent causes of MDDS are defects in nucleosi
Externí odkaz:
https://doaj.org/article/c33cc000db5c486fac28f774f3298015