Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology

Por Frazier, Ann E., Thorburn, David R., Compton, Alison G.
Publicado no J Biol Chem (2019)

Mitochondria Use Different Mechanisms for Transport of Multispanning Membrane Proteins through the Intermembrane Space

Por Frazier, Ann E., Chacinska, Agnieszka, Truscott, Kaye N., Guiard, Bernard, Pfanner, Nikolaus, Rehling, Peter
Publicado em 2003

MiD49 and MiD51, new components of the mitochondrial fission machinery

Por Palmer, Catherine S, Osellame, Laura D, Laine, David, Koutsopoulos, Olga S, Frazier, Ann E, Ryan, Michael T
Publicado em 2011

Taz1, an Outer Mitochondrial Membrane Protein, Affects Stability and Assembly of Inner Membrane Protein Complexes: Implications for Barth Syndrome

Por Brandner, Katrin, Mick, David U., Frazier, Ann E., Taylor, Rebecca D., Meisinger, Chris, Rehling, Peter
Publicado em 2005

Mitochondrial translocation contact sites: separation of dynamic and stabilizing elements in formation of a TOM–TIM–preprotein supercomplex

Por Chacinska, Agnieszka, Rehling, Peter, Guiard, Bernard, Frazier, Ann E., Schulze-Specking, Agnes, Pfanner, Nikolaus, Voos, Wolfgang, Meisinger, Chris
Publicado em 2003

Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4(fky/fky) mouse

Por Bird, Matthew J., Wijeyeratne, Xiaonan W., Komen, Jasper C., Laskowski, Adrienne, Ryan, Michael T., Thorburn, David R., Frazier, Ann E.
Publicado no Biosci Rep (2014)

Mdm38 interacts with ribosomes and is a component of the mitochondrial protein export machinery

Por Frazier, Ann E., Taylor, Rebecca D., Mick, David U., Warscheid, Bettina, Stoepel, Nadine, Meyer, Helmut E., Ryan, Michael T., Guiard, Bernard, Rehling, Peter
Publicado em 2006

Structural and Functional Requirements for Activity of the Tim9–Tim10 Complex in Mitochondrial Protein Import

Por Baker, Michael J., Webb, Chaille T., Stroud, David A., Palmer, Catherine S., Frazier, Ann E., Guiard, Bernard, Chacinska, Agnieszka, Gulbis, Jacqueline M., Ryan, Michael T.
Publicado em 2009

Inhibition of Bak Activation by VDAC2 Is Dependent on the Bak Transmembrane Anchor

Por Lazarou, Michael, Stojanovski, Diana, Frazier, Ann E., Kotevski, Aneta, Dewson, Grant, Craigen, William J., Kluck, Ruth M., Vaux, David L., Ryan, Michael T.
Publicado em 2010

Shy1 couples Cox1 translational regulation to cytochrome c oxidase assembly

Por Mick, David U, Wagner, Karina, van der Laan, Martin, Frazier, Ann E, Perschil, Inge, Pawlas, Magdalena, Meyer, Helmut E, Warscheid, Bettina, Rehling, Peter
Publicado em 2007

A J-protein is an essential subunit of the presequence translocase–associated protein import motor of mitochondria

Por Truscott, Kaye N., Voos, Wolfgang, Frazier, Ann E., Lind, Maria, Li, Yanfeng, Geissler, Andreas, Dudek, Jan, Müller, Hanne, Sickmann, Albert, Meyer, Helmut E., Meisinger, Chris, Guiard, Bernard, Rehling, Peter, Pfanner, Nikolaus
Publicado em 2003

Mitochondrial OXA Translocase Plays a Major Role in Biogenesis of Inner-Membrane Proteins

Por Stiller, Sebastian B., Höpker, Jan, Oeljeklaus, Silke, Schütze, Conny, Schrempp, Sandra G., Vent-Schmidt, Jens, Horvath, Susanne E., Frazier, Ann E., Gebert, Natalia, van der Laan, Martin, Bohnert, Maria, Warscheid, Bettina, Pfanner, Nikolaus, Wiedemann, Nils
Publicado no Cell Metab (2016)

Functional Characterization of Friedreich Ataxia iPS-Derived Neuronal Progenitors and Their Integration in the Adult Brain

Por Bird, Matthew J., Needham, Karina, Frazier, Ann E., van Rooijen, Jorien, Leung, Jessie, Hough, Shelley, Denham, Mark, Thornton, Matthew E., Parish, Clare L., Nayagam, Bryony A., Pera, Martin, Thorburn, David R., Thompson, Lachlan H., Dottori, Mirella
Publicado em 2014

Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome

Por Kang, Yilin, Anderson, Alexander J, Jackson, Thomas Daniel, Palmer, Catherine S, De Souza, David P, Fujihara, Kenji M, Stait, Tegan, Frazier, Ann E, Clemons, Nicholas J, Tull, Deidreia, Thorburn, David R, McConville, Malcolm J, Ryan, Michael T, Stroud, David A, Stojanovski, Diana
Publicado no eLife (2019)

Correction: Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome

Por Kang, Yilin, Anderson, Alexander J, Jackson, Thomas Daniel, Palmer, Catherine S, De Souza, David P, Fujihara, Kenji M, Stait, Tegan, Frazier, Ann E, Clemons, Nicholas J, Tull, Deidreia, Thorburn, David R, McConville, Malcolm J, Ryan, Michael T, Stroud, David A, Stojanovski, Diana
Publicado no eLife (2020)

Loss of BIM increases mitochondrial oxygen consumption and lipid oxidation, reduces adiposity and improves insulin sensitivity in mice

Por Wali, Jibran A, Galic, Sandra, Tan, Christina YR, Gurzov, Esteban N, Frazier, Ann E, Connor, Timothy, Ge, Jingjing, Pappas, Evan G, Stroud, David, Varanasi, L Chitra, Selck, Claudia, Ryan, Michael T, Thorburn, David R, Kemp, Bruce E, Krishnamurthy, Balasubramanian, Kay, Thomas WH, McGee, Sean L, Thomas, Helen E
Publicado no Cell Death Differ (2018)

Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

Por Tucker, Elena J., Wanschers, Bas F. J., Szklarczyk, Radek, Mountford, Hayley S., Wijeyeratne, Xiaonan W., van den Brand, Mariël A. M., Leenders, Anne M., Rodenburg, Richard J., Reljić, Boris, Compton, Alison G., Frazier, Ann E., Bruno, Damien L., Christodoulou, John, Endo, Hitoshi, Ryan, Michael T., Nijtmans, Leo G., Huynen, Martijn A., Thorburn, David R.
Publicado em 2013

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Por Desai, Radha, Frazier, Ann E., Durigon, Romina, Patel, Harshil, Jones, Aleck W., Dalla Rosa, Ilaria, Lake, Nicole J., Compton, Alison G., Mountford, Hayley S., Tucker, Elena J., Mitchell, Alice L. R., Jackson, Deborah, Sesay, Abdul, Di Re, Miriam, van den Heuvel, Lambert P., Burke, Derek, Francis, David, Lunke, Sebastian, McGillivray, George, Mandelstam, Simone, Mochel, Fanny, Keren, Boris, Jardel, Claude, Turner, Anne M., Ian Andrews, P., Smeitink, Jan, Spelbrink, Johannes N., Heales, Simon J., Kohda, Masakazu, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi, Lombès, Anne, Holt, Ian J., Thorburn, David R., Spinazzola, Antonella
Publicado no Brain (2017)

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus

Por Frazier, Ann E., Compton, Alison G., Kishita, Yoshihito, Hock, Daniella H., Welch, AnneMarie E., Amarasekera, Sumudu S.C., Rius, Rocio, Formosa, Luke E., Imai-Okazaki, Atsuko, Francis, David, Wang, Min, Lake, Nicole J., Tregoning, Simone, Jabbari, Jafar S., Lucattini, Alexis, Nitta, Kazuhiro R., Ohtake, Akira, Murayama, Kei, Amor, David J., McGillivray, George, Wong, Flora Y., van der Knaap, Marjo S., Jeroen Vermeulen, R., Wiltshire, Esko J., Fletcher, Janice M., Lewis, Barry, Baynam, Gareth, Ellaway, Carolyn, Balasubramaniam, Shanti, Bhattacharya, Kaustuv, Freckmann, Mary-Louise, Arbuckle, Susan, Rodriguez, Michael, Taft, Ryan J., Sadedin, Simon, Cowley, Mark J., Minoche, André E., Calvo, Sarah E., Mootha, Vamsi K., Ryan, Michael T., Okazaki, Yasushi, Stroud, David A., Simons, Cas, Christodoulou, John, Thorburn, David R.
Publicado no Med (N Y) (2020)