Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Ann E. Frazier"'
Publikováno v:
Open Biology, Vol 12, Iss 12 (2022)
Mitochondrial diseases are a broad, genetically heterogeneous class of metabolic disorders characterized by deficits in oxidative phosphorylation (OXPHOS). Primary mitochondrial disease (PMD) defines pathologies resulting from mutation of mitochondri
Externí odkaz:
https://doaj.org/article/50fbab3eae4841b0976ca1bdaf33b93d
Autor:
Cesare Granata, Nikeisha J. Caruana, Javier Botella, Nicholas A. Jamnick, Kevin Huynh, Jujiao Kuang, Hans A. Janssen, Boris Reljic, Natalie A. Mellett, Adrienne Laskowski, Tegan L. Stait, Ann E. Frazier, Melinda T. Coughlan, Peter J. Meikle, David R. Thorburn, David A. Stroud, David J. Bishop
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
Exercise training can be therapeutic but how mitochondria respond remains unclear. Here, the authors use multiple omics techniques to reveal a complex network of non-stoichiometric mitochondrial adaptations that are prioritized or deprioritised durin
Externí odkaz:
https://doaj.org/article/bea2037780444510914f0ea9d4120a6f
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 14, p 7730 (2021)
Mitochondrial diseases disrupt cellular energy production and are among the most complex group of inherited genetic disorders. Affecting approximately 1 in 5000 live births, they are both clinically and genetically heterogeneous, and can be highly ti
Externí odkaz:
https://doaj.org/article/fc0ae808cbc344adb2efa1564e1e7fe2
Autor:
Matthew J. Bird, Xiaonan W. Wijeyeratne, Jasper C. Komen, Adrienne Laskowski, Michael T. Ryan, David R. Thorburn, Ann E. Frazier
Publikováno v:
Bioscience Reports, Vol 34, Iss 6, p e00151 (2014)
Mitochondrial dysfunction causes a range of early-onset neurological diseases and contributes to neurodegenerative conditions. The mechanisms of neurological damage however are poorly understood, as accessing relevant tissue from patients is difficul
Externí odkaz:
https://doaj.org/article/24a09d353dc54301b46476e31afb1d0c
Autor:
Kevin Huynh, Tegan Stait, Cesare Granata, Melinda T. Coughlan, David Bishop, Natalie A. Mellett, H. Janssen, Jujiao Kuang, Nikeisha J Caruana, Nicholas A. Jamnick, Peter J. Meikle, David A. Stroud, Boris Reljic, Adrienne Laskowski, David R. Thorburn, Javier Botella, Ann E. Frazier
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
Nature Communications
Nature Communications
Mitochondrial defects are implicated in multiple diseases and aging. Exercise training is an accessible, inexpensive therapeutic intervention that can improve mitochondrial bioenergetics and quality of life. By combining multiple omics techniques wit
Autor:
David R. Thorburn, Yilin Kang, Kenji M Fujihara, Catherine S Palmer, Yau C Low, Ann E. Frazier, Nicholas J. Clemons, Daniella H Hock, David A. Stroud, Thomas Daniel Jackson, Diana Stojanovski, Ching-Seng Ang
Publikováno v:
Molecular Biology of the Cell
Acylglycerol kinase (AGK) is a mitochondrial lipid kinase that contributes to protein biogenesis as a subunit of the TIM22 complex at the inner mitochondrial membrane. Mutations in AGK cause Sengers syndrome, an autosomal recessive condition characte
Autor:
Thomas D. Jackson, Jordan J. Crameri, Linden Muellner-Wong, Ann E. Frazier, Catherine S. Palmer, Luke E. Formosa, Daniella H. Hock, Kenji M. Fujihara, Tegan Stait, Alice J. Sharpe, David R. Thorburn, Michael T. Ryan, David A. Stroud, Diana Stojanovski
Publikováno v:
Proceedings of the National Academy of Sciences. 119
Significance Mitochondria are double-membraned eukaryotic organelles that house the proteins required for generation of ATP, the energy currency of cells. ATP generation within mitochondria is performed by five multisubunit complexes (complexes I to
Autor:
Ann E. Frazier, David A. Stroud, Nicholas A. Jamnick, David R. Thorburn, Adrienne Laskowski, Melinda T. Coughlan, Javier Botella, Nikeisha J. Caruana, Boris Reljic, Kevin Huynh, Tegan Stait, David Bishop, H. Janssen, Cesare Granata, Natalie A. Mellett, Peter J. Meikle, Jujiao Kuang
SUMMARYMitochondrial defects are implicated in multiple diseases and aging. Exercise training is an accessible and inexpensive therapeutic intervention improving mitochondrial bioenergetics and quality of life. By combining a multi-omics approach wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a43cd52864b89b8d72d6b2fa6680950
https://doi.org/10.1101/2021.02.19.431993
https://doi.org/10.1101/2021.02.19.431993
Autor:
Ann E, Frazier, Alison G, Compton, Yoshihito, Kishita, Daniella H, Hock, AnneMarie E, Welch, Sumudu S C, Amarasekera, Rocio, Rius, Luke E, Formosa, Atsuko, Imai-Okazaki, David, Francis, Min, Wang, Nicole J, Lake, Simone, Tregoning, Jafar S, Jabbari, Alexis, Lucattini, Kazuhiro R, Nitta, Akira, Ohtake, Kei, Murayama, David J, Amor, George, McGillivray, Flora Y, Wong, Marjo S, van der Knaap, R, Jeroen Vermeulen, Esko J, Wiltshire, Janice M, Fletcher, Barry, Lewis, Gareth, Baynam, Carolyn, Ellaway, Shanti, Balasubramaniam, Kaustuv, Bhattacharya, Mary-Louise, Freckmann, Susan, Arbuckle, Michael, Rodriguez, Ryan J, Taft, Simon, Sadedin, Mark J, Cowley, André E, Minoche, Sarah E, Calvo, Vamsi K, Mootha, Michael T, Ryan, Yasushi, Okazaki, David A, Stroud, Cas, Simons, John, Christodoulou, David R, Thorburn
Publikováno v:
Med (New York, N.Y.). 2(1)
In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications.
Publikováno v:
Journal of Biological Chemistry. 294:5386-5395
Inherited disorders of oxidative phosphorylation cause the clinically and genetically heterogeneous diseases known as mitochondrial energy generation disorders, or mitochondrial diseases. Over the last three decades, mutations causing these disorders