| 10103005 |
Molecular cloning, structural characterization and chromosomal localization of human lipoyltransferase gene
Fujiwara, T,
Motokawa, Y,
Suzuki, M,
Okumachi, Y,
Takahashi, E,
Fujiwara, K,
Okamura-Ikeda, K
|
Eur. J. Biochem. |
1999 |
| 24256811 |
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes
Ferrer-Cortès, X,
Ribes, A,
Garcia-Villoria, J,
Artuch, R,
Garcia-Cazorla, A,
Briones, P,
Quintana, E,
Arias, A,
Vianey-Saban, C,
Acquaviva, C,
Bujan, N,
Tort, F,
Thió, M,
Matalonga, L,
Navarro-Sastre, A
|
Hum. Mol. Genet. |
2014 |
| 24341803 |
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase
Hubert, L,
Boutron, A,
Mamoune, A,
Hamel, Y,
Chrétien, D,
Barnerias, C,
Habarou, F,
Soreze, Y,
Nonnenmacher, L,
Delahodde, A,
Delpech, H,
Ottolenghi, C,
de Lonlay, P,
Nitschké, P,
Boddaert, N,
Correia, I,
Bole-Feysot, C,
Sardet, C
|
Orphanet J Rare Dis |
2013 |
| 31042466 |
Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans
Pascual, JM,
Yang, C,
Jiang, L,
Pan, C,
Vu, HS,
Solmonson, A,
Morales, NM,
Gotway, GK,
Pei, J,
Li, D,
McDonald, JG,
Notzon, A,
McNutt, MC,
Grishin, NV,
Faubert, B,
Vale, G,
DeBerardinis, RJ,
Cai, L,
Zacharias, LG,
Ni, M,
Ko, B,
Guevara, G,
Rakheja, D
|
Cell Rep |
2019 |
