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106 results

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Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.
Falabella M, Pizzamiglio C, Tabara LC, Munro B, Abdel-Hamid MS, Sonmezler E, Macken WL, Lu S, Tilokani L, Flannery PJ, Patel N, Pope SAS, Heales SJR, Hammadi DBH, Alston CL, Taylor RW, Lochmuller H, Woodward CE, Labrum R, Vandrovcova J, Houlden H, Chronopoulou E, Pierre G, Maroofian R, Hanna MG, Taanman JW, Hiz S, Oktay Y, Zaki MS, Horvath R, Prudent J, Pitceathly RDS. Falabella M, et al. Among authors: prudent j. Brain. 2024 Aug 30:awae268. doi: 10.1093/brain/awae268. Online ahead of print. Brain. 2024. PMID: 39279645
Loss of Mfn1 but not Mfn2 enhances adipogenesis.
Mann JP, Tábara LC, Patel S, Pushpa P, Alvarez-Guaita A, Dong L, Haider A, Lim K, Tandon P, Scurria F, Minchin JEN, O'Rahilly S S, Fazakerley DJ, Prudent J, Semple RK, Savage DB. Mann JP, et al. Among authors: prudent j. PLoS One. 2024 Dec 31;19(12):e0306243. doi: 10.1371/journal.pone.0306243. eCollection 2024. PLoS One. 2024. PMID: 39739772 Free PMC article.
Distinct roles for the domains of the mitochondrial aspartate/glutamate carrier citrin in organellar localization and substrate transport.
Tavoulari S, Lacabanne D, Pereira GC, Thangaratnarajah C, King MS, He J, Chowdhury SR, Tilokani L, Palmer SM, Prudent J, Walker JE, Kunji ERS. Tavoulari S, et al. Among authors: prudent j. Mol Metab. 2024 Dec;90:102047. doi: 10.1016/j.molmet.2024.102047. Epub 2024 Oct 16. Mol Metab. 2024. PMID: 39419476 Free PMC article.
Molecular mechanisms of mitochondrial dynamics.
Tábara LC, Segawa M, Prudent J. Tábara LC, et al. Among authors: prudent j. Nat Rev Mol Cell Biol. 2024 Oct 17. doi: 10.1038/s41580-024-00785-1. Online ahead of print. Nat Rev Mol Cell Biol. 2024. PMID: 39420231 Review.
106 results