Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Ann E. Frazier"'
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
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
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c364771340c952338fb6eece966e5876
https://doi.org/10.1016/bs.mcb.2019.11.007
https://doi.org/10.1016/bs.mcb.2019.11.007
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
Autor:
Grant Dewson, Michael T. Ryan, William J. Craigen, Diana Stojanovski, Ann E. Frazier, David L. Vaux, Ruth M. Kluck, Michael Lazarou, Aneta Kotevski
Publikováno v:
Journal of Biological Chemistry. 285:36876-36883
Bax and Bak are pro-apoptotic factors that are required for cell death by the mitochondrial or intrinsic pathway. Bax is found in an inactive state in the cytosol and upon activation is targeted to the mitochondrial outer membrane where it releases c
Autor:
Elliot Surgenor, David A. Stroud, Caroline Lindau, F-Nora Vögtle, Silke Oeljeklaus, Matteo Bonas, Ann E. Frazier, Megan J. Maher, Bettina Warscheid, Hayley S. Mountford, David R. Thorburn, Abeer P. Singh, Chris Meisinger, Michael T. Ryan
Publikováno v:
Human molecular genetics. 24(19)
Biogenesis of complex IV of the mitochondrial respiratory chain requires assembly factors for subunit maturation, co-factor attachment and stabilization of intermediate assemblies. A pathogenic mutation in COA6, leading to substitution of a conserved
Autor:
David A. Stroud, Michael T. Ryan, Masakazu Mimaki, Tegan Stait, Matthew McKenzie, David R. Thorburn, Luke E. Formosa, Ann E. Frazier
Publikováno v:
Human molecular genetics. 24(10)
Human mitochondrial complex I is the largest enzyme of the respiratory chain and is composed of 44 different subunits. Complex I subunits are encoded by both nuclear and mitochondrial (mt) DNA and their assembly requires a number of additional protei
Autor:
Matthew J. Bird, Jasper C. Komen, David R. Thorburn, Xiaonan W. Wijeyeratne, Ann E. Frazier, Michael T. Ryan, Adrienne Laskowski
Publikováno v:
Bioscience Reports
Bioscience Reports, Vol 34, Iss 6, p e00151 (2014)
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
Autor:
Yanfeng Li, Chris Meisinger, Bernard Guiard, Maria I. Lind, Nikolaus Pfanner, Peter Rehling, Ann E. Frazier, Helmut E. Meyer, Hanne Müller, Jan Dudek, Andreas Geissler, Wolfgang Voos, Albert Sickmann, Kaye N. Truscott
Publikováno v:
The Journal of Cell Biology
Transport of preproteins into the mitochondrial matrix is mediated by the presequence translocase–associated motor (PAM). Three essential subunits of the motor are known: mitochondrial Hsp70 (mtHsp70); the peripheral membrane protein Tim44; and the