Reactome | Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy Show undefined attributes

author	[Person:6792638] Habarou, F [Person:6792634] Hamel, Y [Person:5696029] Haack, TB [Person:9856702] Feichtinger, RG [Person:9857607] Lebigot, E [Person:5638266] Marquardt, I [Person:5683225] Busiah, K [Person:9857611] Laroche, C [Person:9857612] Madrange, M [Person:9857603] Grisel, C [Person:9857596] Pontoizeau, C [Person:9857613] Eisermann, M [Person:2512889] Boutron, A [Person:5632905] Chr�tien, D [Person:8932839] Chadefaux-Vekemans, B [Person:9857617] Barouki, R [Person:5420859] Bole-Feysot, C [Person:5617720] Nitschk�, P [Person:9857601] Goudin, N [Person:5624601] Boddaert, N [Person:196758] Nemazanyy, I [Person:6792628] Delahodde, A [Person:3296238] K�lker, S [Person:4549331] Rodenburg, RJ [Person:9857594] Korenke, GC [Person:196863] Meitinger, T [Person:159842] Strom, TM [Person:9839696] Prokisch, H [Person:5632898] R�tig, A [Person:6792631] Ottolenghi, C [Person:5696075] Mayr, JA [Person:3229119] de Lonlay, P
created	[InstanceEdit:9857599] Stephan, Ralf, 2024-01-08
dbId	9857614
displayName	Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
journal	Am J Hum Genet
pages	283-290
pubMedIdentifier	28757203
schemaClass	LiteratureReference
title	Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
url	http://www.ncbi.nlm.nih.gov/pubmed/28757203
volume	101
year	2017

Referrals

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[Reaction:R-HSA-6793590] LIPT2 transfers octanoyl group to GCSH

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