Zobrazeno 1 - 10
of 228
pro vyhledávání: '"Eric A. Schon"'
Autor:
Patricia Morcillo, Khushbu Kabra, Kevin Velasco, Hector Cordero, Sarah Jennings, Taekyung D. Yun, Delfina Larrea, H. Orhan Akman, Eric A. Schon
Publikováno v:
Cell Death and Disease, Vol 15, Iss 6, Pp 1-17 (2024)
Abstract Genetic mutations causing primary mitochondrial disease (i.e those compromising oxidative phosphorylation [OxPhos]) resulting in reduced bioenergetic output display great variability in their clinical features, but the reason for this is unk
Externí odkaz:
https://doaj.org/article/cc0b77c0678f4a44a089a4fa9f0f8e8a
Autor:
Stephanie E. Siegmund, Robert Grassucci, Stephen D. Carter, Emanuele Barca, Zachary J. Farino, Martí Juanola-Falgarona, Peijun Zhang, Kurenai Tanji, Michio Hirano, Eric A. Schon, Joachim Frank, Zachary Freyberg
Publikováno v:
iScience, Vol 6, Iss , Pp 83-91 (2018)
Summary: Mitochondrial diseases produce profound neurological dysfunction via mutations affecting mitochondrial energy production, including the relatively common Leigh syndrome (LS). We recently described an LS case caused by a pathogenic mutation i
Externí odkaz:
https://doaj.org/article/137763a45910469bb1a23c43d8e8d583
Autor:
Guomei Tang, Puri Gutierrez Rios, Sheng-Han Kuo, Hasan Orhan Akman, Gorazd Rosoklija, Kurenai Tanji, Andrew Dwork, Eric A. Schon, Salvatore DiMauro, James Goldman, David Sulzer
Publikováno v:
Neurobiology of Disease, Vol 54, Iss , Pp 349-361 (2013)
Autism spectrum disorder (ASD) consists of a group of complex developmental disabilities characterized by impaired social interactions, deficits in communication and repetitive behavior. Multiple lines of evidence implicate mitochondrial dysfunction
Externí odkaz:
https://doaj.org/article/e9a049697aaf46e6b6c974cd1841675b
Publikováno v:
Science. 373:1200-1201
Questions over mitochondrial replacement suggest a role for mitochondrial DNA editing
Autor:
Nicholas Ah Mew, Wado Akamatsu, Hasan Orhan Akman, Afnan AlHakeem, Koji Aoyama, Rafael Artuch, Michael Beck, C. Frank Bennett, Gerard T. Berry, D. Montgomery Bissell, Brenda Canine, C. Thomas Caskey, Widler Casy, Patrick F. Chinnery, David T. Chuang, Emily K. Cook, Rody P. Cox, Philip L. De Jager, Didem Demirbas, Robert J. Desnick, Salvatore DiMauro, Florian S. Eichler, Bernice Elger, Valentina Emmanuele, Patricia Evans, Brent L. Fogel, Àngels García-Cazorla, Cinzia Gellera, Sailaja Golla, Kimberly Goodspeed, Sidney M. Gospe, Steven J. Gray, Andrea L. Gropman, Yian Gu, Renzo Guerrini, Teresa M. Gunn, Una Hadziahmetovic, Darrah Haffner, R.J. Hagerman, Tamar Harel, Elizabeth Head, Rita Horvath, Yasushi Hosoi, Ying-Chen Claire Hou, Jane Hsiao, Hiroyuki Ishiura, Clifford R. Jack, Vikram Jakkamsetti, William G. Johnson†, Fabrice Jotterand, John P. Kane, Olga Khorkova, Chisato Kinoshita, Sanne E. Klompe, Lisa M. Koehl, Michael C. Kruer, Walter A. Kukull, Roger M. Lane, Joseph H. Lee, M.J. Leigh, Qinglan Ling, James R. Lupski, Paola Luzi, Qian Ma, Gustavo H.B. Maegawa, Mary J. Malloy, Seth S. Margolis, Isaac Marin-Valencia, James A. Mastrianni, Dena Matalon, Reuben Matalon, Kimberlee Michals Matalon Rd, Jennifer M. Mathews, Richard Mayeux, Jennifer McCurdy, Meira R. Meltzer, John H. Menkes†, Justin Miron, Jun Mitsui, Hiroaki Miyajima, Lisa M. Monteggia, Mary Ann Morris, Hugo W. Moser†, Melissa E. Murray, Toshio Nakaki, Nathalie Nilsson, Ichizo Nishino, Sandra M.H. Nordlie, Robert L. Nussbaum, William L. Nyhan, Hideyuki Okano, Sergio Padilla-Lopez, Elena Parrini, Juan M. Pascual, Gregory M. Pastores, Shailendra B. Patel, Marc C. Patterson, Izabella A. Pena, Cynthia Picard, Judes Poirier, Jennifer E. Posey, Gerald V. Raymond, William Renthal, David S. Rosenblatt, Francis Rossignol, Gerald Salen, Konrad Sandhoff, Raphael Schiffmann, Detlev Schindler, Frederick A. Schmitt, Susanne A. Schneider, Eric A. Schon, Edward H. Schuchman, Margretta Reed Seashore, Frances C. Shaffo, Michael Shevell, Sarah E. Sinnett, Myriam Srour, Samuel H. Sternberg, Kazuma Sugie, Kristen L. Szabla, Franco Taroni, Marina Tedeschi Dauar, Shoji Tsuji, Wendy R. Uhlmann, Clara van Karnebeek, Kathryn L. Van Pelt, Prashanthi Vemuri, Charles P. Venditti, Claes Wahlestedt, Bruce Wang, David Watkins, David A. Wenger, Charles A. Williams, Golder N. Wilson, Barry Wolf, R. Max Wynn, Hung-Chun Yu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57d33606a0dd70f9459d3237b2c69dcb
https://doi.org/10.1016/b978-0-12-813955-4.00079-9
https://doi.org/10.1016/b978-0-12-813955-4.00079-9
Autor:
Eric A. Schon
Human mitochondrial DNA (mtDNA) is a tiny, 16.6-kb, circular genome present in the mitochondria of essentially all cells. It encodes 2 rRNAs, 22 tRNAs, and 13 polypeptides that are all subunits of complexes of the respiratory chain/oxidative phosphor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2855bc06a659dc90ac6963eaa02313cc
https://doi.org/10.1016/b978-0-12-813955-4.00026-x
https://doi.org/10.1016/b978-0-12-813955-4.00026-x
Autor:
Eduardo Bonilla, Estela Area-Gomez, Istvan R. Boldogh, Liza A. Pon, Ad de Groof, Kurenai Tanji, Eric A. Schon, Jorge Montesinos
Publikováno v:
Cell Death and Disease, Vol 9, Iss 3, Pp 1-10 (2018)
Cell Death & Disease
Cell Death & Disease
In the last few years, increased emphasis has been devoted to understanding the contribution of mitochondria-associated endoplasmic reticulum (ER) membranes (MAM) to human pathology in general, and neurodegenerative diseases in particular. A major re
Autor:
Diana Mnatsakanova, Tyler C. Huff, K. Mathews, Adriana P. Rebelo, Michael E. Shy, Eric A. Schon, Lisa Abreu, Amjad Farooq, Carlos T. Moraes, Claudia V. Pereira, Stephan Züchner, Hua Yang, Dimah Saade
Publikováno v:
Brain. 141:662-672
Recessive mutations in the mitochondrial copper-binding protein SCO2, cytochrome c oxidase (COX) assembly protein, have been reported in several cases with fatal infantile cardioencephalomyopathy with COX deficiency. Significantly expanding the known
Autor:
Vamsi K. Mootha, Owen S. Skinner, Rohit Sharma, Martin A. Javors, Eric A. Schon, Stephanie E. Siegmund, Hua Yang, Michio Hirano
Publikováno v:
Human Molecular Genetics
Mitochondrial disorders affecting oxidative phosphorylation (OxPhos) are caused by mutations in both the nuclear and mitochondrial genomes. One promising candidate for treatment is the drug rapamycin, which has been shown to extend lifespan in multip