Turn up the power –pharmacological activation of mitochondrial biogenesis in mouse models

Por Komen, J C, Thorburn, D R
Publicado em 2014

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes.

Por Blok, R B, Gook, D A, Thorburn, D R, Dahl, H H
Publicado em 1997

The molecular basis of malonyl-CoA decarboxylase deficiency.

Por FitzPatrick, D R, Hill, A, Tolmie, J L, Thorburn, D R, Christodoulou, J
Publicado em 1999

An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.

Por Takakubo, F, Cartwright, P, Hoogenraad, N, Thorburn, D R, Collins, F, Lithgow, T, Dahl, H H
Publicado em 1995

Malonyl coenzyme A decarboxylase deficiency.

Por MacPhee, G B, Logan, R W, Mitchell, J S, Howells, D W, Tsotsis, E, Thorburn, D R
Publicado em 1993

Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.

Por White, S L, Collins, V R, Wolfe, R, Cleary, M A, Shanske, S, DiMauro, S, Dahl, H H, Thorburn, D R
Publicado em 1999

N-Acetylcysteine improves mitochondrial function and ameliorates behavioral deficits in the R6/1 mouse model of Huntington's disease

Por Wright, D J, Renoir, T, Smith, Z M, Frazier, A E, Francis, P S, Thorburn, D R, McGee, S L, Hannan, A J, Gray, L J
Publicado no Transl Psychiatry (2015)

Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease

Por Dunning, C J R, McKenzie, M, Sugiana, C, Lazarou, M, Silke, J, Connelly, A, Fletcher, J M, Kirby, D M, Thorburn, D R, Ryan, M T
Publicado em 2007

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)

Por Balasubramaniam, Shanti, Lewis, B., Mock, D. M., Said, H. M., Tarailo-Graovac, M., Mattman, A., van Karnebeek, C. D., Thorburn, D. R., Rodenburg, R. J., Christodoulou, J.
Publicado no JIMD Rep (2016)

De novo SCN1A mutations in migrating partial seizures of infancy

Por Carranza Rojo, D., Hamiwka, L., McMahon, J.M., Dibbens, L.M., Arsov, T., Suls, A., Stödberg, T., Kelley, K., Wirrell, E., Appleton, B., Mackay, M., Freeman, J.L., Yendle, S.C., Berkovic, S.F., Bienvenu, T., De Jonghe, P., Thorburn, D.R., Mulley, J.C., Mefford, H.C., Scheffer, I.E.
Publicado em 2011