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Page 1
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: wever e. 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.
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
Pop A, Smith DEC, Kirby T, Walters D, Gibson KM, Mahmoudi S, van Dooren SJM, Kanhai WA, Fernandez-Ojeda MR, Wever EJM, Koster J, Waterham HR, Grob B, Roos B, Wamelink MMC, Chen J, Natesan S, Salomons GS. Pop A, et al. Among authors: wever ejm. Mol Genet Metab. 2020 Jul;130(3):172-178. doi: 10.1016/j.ymgme.2020.04.004. Epub 2020 May 4. Mol Genet Metab. 2020. PMID: 32402538 Free article.
Peroxisomal Multifunctional Protein 2 Deficiency Perturbs Lipid Homeostasis in the Retina and Causes Visual Dysfunction in Mice.
Das Y, Swinkels D, Kocherlakota S, Vinckier S, Vaz FM, Wever E, van Kampen AHC, Jun B, Do KV, Moons L, Bazan NG, Van Veldhoven PP, Baes M. Das Y, et al. Among authors: wever e. Front Cell Dev Biol. 2021 Feb 2;9:632930. doi: 10.3389/fcell.2021.632930. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33604342 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: wever e. 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.
Correction to: 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: wever e. Genet Med. 2021 Dec;23(12):2467. doi: 10.1038/s41436-021-01189-8. Genet Med. 2021. PMID: 34667295 Free PMC article. No abstract available.
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. 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.
Alterations in ether lipid metabolism and the consequences for the mouse lipidome.
Lackner K, Sailer S, van Klinken JB, Wever E, Pras-Raves ML, Dane AD, Honsho M, Abe Y, Keller MA, Golderer G, Werner-Felmayer G, Fujiki Y, Vaz FM, Werner ER, Watschinger K. Lackner K, et al. Among authors: wever e. Biochim Biophys Acta Mol Cell Biol Lipids. 2023 Apr;1868(4):159285. doi: 10.1016/j.bbalip.2023.159285. Epub 2023 Jan 21. Biochim Biophys Acta Mol Cell Biol Lipids. 2023. PMID: 36690320 Free article.
199 results