Award

Mitochondrial Inborn Errors in Metabolism

Description: PUBLIC HEALTH RELEVANCE: Mitochondrial diseases are now recognized as among the most common metabolic diseases. Furthermore, mitochondrial DNA (mtDNA) mutations have been implicated in a wide range of metabolic and degenerative diseases, various cancers, and aging. By developing mouse models of mtDNA disease we are in position to understand the underlying basis of these diseases and to develop effective therapeutics-advances which promise to have broad applications in the diagnosis and treatment of many common human diseases.
Funding type: research
Funder scheme: R01
Start date: 1984-09-01
End date: 2021-03-31
Investigator: DOUGLAS C WALLACE
Institution: CHILDREN'S HOSP OF PHILADELPHIA
Funded outputs count: 240
Funder award ID: R01NS021328
OpenAlex ID: G6828539183
2023 · He N. Xu, Ryan M. Morrow, et al. · Journal of Innovative Optical Health Sciences · 1
2023 · Salvatore Daniele Bianco, Luca Parca, et al. · Nature Communications · 44
2022 · Patrick M. Schaefer, Leonardo Scherer Alves, et al. · Proceedings of the National Academy of Sciences · 22
2022 · Patrick M. Schaefer, Jessica Huang, et al. · Molecular Metabolism · 21
2022 · Adrian Flierl, Samuel E. Schriner, et al. · Free Radical Biology and Medicine · 14
2022 · Patrick M. Schaefer, Komal Rathi, et al. · Proceedings of the National Academy of Sciences · 23
2022 · Patrick M. Schaefer, Leonardo Scherer Alves, et al. · bioRxiv (Cold Spring Harbor Laboratory)
2021 · Jing Wang, Jorune Balciuniene, et al. · Molecular Genetics and Metabolism · 27
2021 · Larry N. Singh, Brian Ennis, et al. · PLoS Computational Biology · 26
2021 · Tal Yardeni, Ana G. Cristancho, et al. · Proceedings of the National Academy of Sciences · 45
2020 · William J. Quinn, Jing Jiao, et al. · Cell Reports · 370
2020 · Siddhesh Aras, Neeraja Purandare, et al. · Proceedings of the National Academy of Sciences · 54
2020 · Elizabeth M. McCormick, Marie T. Lott, et al. · Human Mutation · 190
2020 · Satinder Dahiya, Ulf H. Beier, et al. · Scientific Reports · 73
2019 · Atsushi Hoshino, Wei-jia Wang, et al. · Nature · 228
2019 · Rong Tian, Wilson S. Colucci, et al. · Circulation · 134
2019 · Scott L. Weiss, Donglan Zhang, et al. · Critical Care Medicine · 54
2019 · Ambre M. Bertholet, Edward T. Chouchani, et al. · Nature · 256
2019 · Piotr K. Kopinski, Kevin A. Janssen, et al. · Proceedings of the National Academy of Sciences · 159
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