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Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.
Thompson K, Bianchi L, Rastelli F, Piron-Prunier F, Ayciriex S, Besmond C, Hubert L, Barth M, Barbosa IA, Deshpande C, Chitre M, Mehta SG, Wever EJM, Marcorelles P, Donkervoort S, Saade D, Bönnemann CG, Chao KR, Cai C, Iannaccone ST, Dean AF, McFarland R, Vaz FM, Delahodde A, Taylor RW, Rötig A. Thompson K, et al. Among authors: vaz fm. HGG Adv. 2022 Mar 4;3(2):100097. doi: 10.1016/j.xhgg.2022.100097. eCollection 2022 Apr 14. HGG Adv. 2022. PMID: 35321494 Free PMC article.
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.
Zeharia A, Shaag A, Houtkooper RH, Hindi T, de Lonlay P, Erez G, Hubert L, Saada A, de Keyzer Y, Eshel G, Vaz FM, Pines O, Elpeleg O. Zeharia A, et al. Among authors: vaz fm. Am J Hum Genet. 2008 Oct;83(4):489-94. doi: 10.1016/j.ajhg.2008.09.002. Epub 2008 Sep 25. Am J Hum Genet. 2008. PMID: 18817903 Free PMC article.
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.
Michot C, Hubert L, Brivet M, De Meirleir L, Valayannopoulos V, Müller-Felber W, Venkateswaran R, Ogier H, Desguerre I, Altuzarra C, Thompson E, Smitka M, Huebner A, Husson M, Horvath R, Chinnery P, Vaz FM, Munnich A, Elpeleg O, Delahodde A, de Keyzer Y, de Lonlay P. Michot C, et al. Among authors: vaz fm. Hum Mutat. 2010 Jul;31(7):E1564-73. doi: 10.1002/humu.21282. Hum Mutat. 2010. PMID: 20583302 Free article.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L; Undiagnosed Diseases Network; Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. Ferdinandusse S, et al. Among authors: vaz fm. Genet Med. 2021 Apr;23(4):740-750. doi: 10.1038/s41436-020-01027-3. Epub 2020 Nov 26. Genet Med. 2021. PMID: 33239752 Free PMC article.
PTPMT1 Is Required for Embryonic Cardiac Cardiolipin Biosynthesis to Regulate Mitochondrial Morphogenesis and Heart Development.
Chen Z, Zhu S, Wang H, Wang L, Zhang J, Gu Y, Tan C, Dhanani M, Wever E, Wang X, Xie B, Wang S, Huang L, van Kampen AHC, Liu J, Han Z, Patel HH, Vaz FM, Fang X, Chen J, Ouyang K. Chen Z, et al. Among authors: vaz fm. Circulation. 2021 Aug 3;144(5):403-406. doi: 10.1161/CIRCULATIONAHA.121.054768. Epub 2021 Aug 2. Circulation. 2021. PMID: 34339306 Free PMC article. No abstract available.
Adaptations of the 3T3-L1 adipocyte lipidome to defective ether lipid catabolism upon Agmo knockdown.
Sailer S, Lackner K, Pras-Raves ML, Wever EJM, van Klinken JB, Dane AD, Geley S, Koch J, Golderer G, Werner-Felmayer G, Keller MA, Zwerschke W, Vaz FM, Werner ER, Watschinger K. Sailer S, et al. Among authors: vaz fm. J Lipid Res. 2022 Jun;63(6):100222. doi: 10.1016/j.jlr.2022.100222. Epub 2022 May 7. J Lipid Res. 2022. PMID: 35537527 Free PMC article.
248 results