Mutant PTPMT1 disrupts cardiolipin metabolism and mitochondrial bioenergetics leading to a neurodevelopmental syndrome

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Published in:Biochimica et biophysica acta. Bioenergetics 2024-09, Vol.1865, p.149379, Article 149379
Main Authors: Falabella, Micol, Pizzamiglio, Chiara, Tabara, Luis Carlos, Munro, Benjamin, Abdel-Hamid, Mohamed S., Sonmezler, Ece, Macken, William L., Lu, Shanti, Tilokani, Lisa, Flannery, Padraig J., Pope, Simon A.S., Heales, Simon J.R., Hammadi, Dania B.H., Alston, Charlotte L., Taylor, Robert W., Lochmuller, Hanns, Chronopoulou, Efstathia, Pierre, Germaine, Maroofian, Reza, Hanna, Michael G., Taanman, Jan-Willem, Hiz, Semra, Oktay, Yavuz, Zaki, Maha S., Horvath, Rita, Prudent, Julien, Pitceathly, Robert D.S.
Format: Article
Language:English
Online Access:Get full text
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ISSN:0005-2728
DOI:10.1016/j.bbabio.2024.149379