PMC Links for Protein (Select 221554520) - PMC

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Items: 2

Select item 55443881.

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

Florence Habarou, Yamina Hamel, Tobias B. Haack, René G. Feichtinger, Elise Lebigot, Iris Marquardt, Kanetee Busiah, Cécile Laroche, Marine Madrange, Coraline Grisel, Clément Pontoizeau, Monika Eisermann, Audrey Boutron, Dominique Chrétien, Bernadette Chadefaux-Vekemans, Robert Barouki, Christine Bole-Feysot, Patrick Nitschke, Nicolas Goudin, Nathalie Boddaert, Ivan Nemazanyy, Agnès Delahodde, Stefan Kölker, Richard J. Rodenburg, G. Christoph Korenke, Thomas Meitinger, Tim M. Strom, Holger Prokisch, Agnes Rotig, Chris Ottolenghi, Johannes A. Mayr, Pascale de Lonlay

Am J Hum Genet. 2017 Aug 3; 101(2): 283–290. Published online 2017 Jul 27. doi: 10.1016/j.ajhg.2017.07.001

PMCID:: PMC5544388

Article PDF–1.0M

Select item 54762742.

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

Emanuele Bernardinelli, Roberta Costa, Giada Scantamburlo, Janet To, Rossana Morabito, Charity Nofziger, Carolina Doerrier, Gerhard Krumschnabel, Markus Paulmichl, Silvia Dossena

PLoS One. 2017; 12(6): e0179591. Published online 2017 Jun 19. doi: 10.1371/journal.pone.0179591