Reference on EC 2.3.1.181 - lipoyl(octanoyl) transferase and Organism(s) Homo sapiens

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Habarou, F.; Hamel, Y.; Haack, T.; Feichtinger, R.; Lebigot, E.; Marquardt, I.; Busiah, K.; Laroche, C.; Madrange, M.; Grisel, C.; Pontoizeau, C.; Eisermann, M.; Boutron, A.; Chr�tien, D.; Chadefaux-Vekemans, B.; Barouki, R.; Bole-Feysot, C.; Nitschke, P

Biallelic mutations in LIPT2 cause a mitochondrial lipoylation defect associated with severe neonatal encephalopathy

Am. J. Hum. Genet.

101

283-290

2017

Homo sapiens (A6NK58)

28757203

758153

Bernardinelli, E.; Costa, R.; Scantamburlo, G.; To, J.; Morabito, R.; Nofziger, C.; Doerrier, C.; Krumschnabel, G.; Paulmichl, M.; Dossena, S.

Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell death

PLoS ONE

e0179591

2017

Homo sapiens (A6NK58), Homo sapiens

28628643