| 1 | LIAS, LIPT1, LIPT1D, LIPT2, NELABA |
| Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. | |
| Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chrétien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kölker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P. | |
| Am J Hum Genet 101(2):283-290. doi: 10.1016/j.ajhg.2017.07.001. Epub 2017 Jul 27. 2017 | |
| 2 | LIPT2 |
| Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell death. | |
| Bernardinelli E, Costa R, Scantamburlo G, To J, Morabito R, Nofziger C, Doerrier C, Krumschnabel G, Paulmichl M, Dossena S. | |
| PLoS One 12(6):e0179591. doi: 10.1371/journal.pone.0179591. eCollection 2017. 2017 | |
| 3 | LIPT1, LIPT2 |
| Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients. | |
| Lebigot E, Gaignard P, Dorboz I, Slama A, Rio M, de Lonlay P, Héron B, Sabourdy F, Boespflug-Tanguy O, Cardoso A, Habarou F, Ottolenghi C, Thérond P, Bouton C, Golinelli-Cohen MP, Boutron A. | |
| Mol Genet Metab ol Genet Metab. 2017 Aug 3. pii: S1096-7192(17)30335-9. doi: 10.1016/j.ymgme.2017.08.001. [Epub ahead of print] 2017 | |