Citations for
1LIAS, 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
2LIPT2
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
3LIPT1, 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