Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Ann E. Frazier"'
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
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
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:
Methods in cell biology. 155
Measurement of the individual enzymes involved in mitochondrial oxidative phosphorylation (OXPHOS) forms a key part of diagnostic investigations in patients with suspected mitochondrial disease, and can provide crucial information on mitochondrial OX
Autor:
Alexander J Anderson, Nicholas J. Clemons, Yilin Kang, David P De Souza, Tegan Stait, Malcolm J. McConville, Diana Stojanovski, David A. Stroud, Kenji M Fujihara, Thomas Daniel Jackson, David R. Thorburn, Michael T. Ryan, Deidreia Tull, Catherine S Palmer, Ann E. Frazier
Publikováno v:
eLife
eLife, Vol 8 (2019)
eLife, Vol 8 (2019)
Human Tim8a and Tim8b are members of an intermembrane space chaperone network, known as the small TIM family. Mutations in TIMM8A cause a neurodegenerative disease, Mohr-Tranebjærg syndrome (MTS), which is characterised by sensorineural hearing loss
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 7730, p 7730 (2021)
International Journal of Molecular Sciences, Vol 22, Iss 7730, 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
Publikováno v:
Brain : a journal of neurology. 140(11)
Publikováno v:
Biochimica et Biophysica Acta (BBA) - General Subjects. 1840:1380-1392
Background The neuropathology of mitochondrial disease is well characterised. However, pathophysiological mechanisms at the level of biochemistry and cell biology are less clear. Progress in this area has been hampered by the limited accessibility of