-
Frazier, AE, Compton, AG, Kishita, Y, Hock, DH, Welch, AE, Amarasekera, SSC, Rius, R, Formosa, LE, Imai-Okazaki, A, Francis, D, et al.
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus..
Med
2(1)
:
49 -73
2021
view publication
-
Desai, R, Frazier, AE, Durigon, R, Patel, H, Jones, AW, Dalla Rosa, I, Lake, NJ, Compton, AG, Mountford, HS, Tucker, EJ, et al.
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism..
Brain
140(6)
:
1595 -1610
2017
view publication
-
Baker, MJ, Blau, KU, Anderson, AJ, Palmer, CS, Fielden, LF, Crameri, JJ, Milenkovic, D, Thorburn, DR, Frazier, AE, Langer, T, et al.
CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex..
J Cell Biol
223(3)
:
2024
view publication
-
Kang, Y, Anderson, AJ, De Souza, DP, Palmer, CS, Fujihara, KM, Stait, T, Frazier, AE, Clemons, NJ, Tull, D, Thorburn, DR, et al.
Neuronal-specific function of hTim8a in Complex IV assembly provides insight into the molecular mechanism underlying Mohr-Tranebjærg syndrome.
2024
view publication
-
Granata, C, Caruana, NJ, Botella, J, Jamnick, NA, Huynh, K, Kuang, J, Janssen, HA, Reljic, B, Mellett, NA, Laskowski, A, et al.
Training-induced bioenergetic improvement in human skeletal muscle is associated with non-stoichiometric changes in the mitochondrial proteome without reorganization of respiratory chain content.
2024
view publication