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Page 1
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.
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. 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.
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. 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.
A conserved complex lipid signature marks human muscle aging and responds to short-term exercise.
Janssens GE, Molenaars M, Herzog K, Grevendonk L, Remie CME, Vervaart MAT, Elfrink HL, Wever EJM, Schomakers BV, Denis SW, Waterham HR, Pras-Raves ML, van Weeghel M, van Kampen AHC, Tammaro A, Butter LM, van der Rijt S, Florquin S, Jongejan A, Moerland PD, Hoeks J, Schrauwen P, Vaz FM, Houtkooper RH. Janssens GE, et al. Among authors: wever ejm. Nat Aging. 2024 May;4(5):681-693. doi: 10.1038/s43587-024-00595-2. Epub 2024 Apr 12. Nat Aging. 2024. PMID: 38609524
Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry.
Jaspers YRJ, Meyer SW, Pras-Raves ML, Dijkstra IME, Wever EJM, Dane AD, van Klinken JB, Salomons GS, Houtkooper RH, Engelen M, Kemp S, Van Weeghel M, Vaz FM. Jaspers YRJ, et al. Among authors: wever ejm. J Lipid Res. 2024 Jun;65(6):100567. doi: 10.1016/j.jlr.2024.100567. Epub 2024 May 23. J Lipid Res. 2024. PMID: 38795862 Free PMC article.
Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy.
Jaspers YRJ, Yska HAF, Bergner CG, Dijkstra IME, Huffnagel IC, Voermans MMC, Wever E, Salomons GS, Vaz FM, Jongejan A, Hermans J, Tryon RK, Lund TC, Köhler W, Engelen M, Kemp S. Jaspers YRJ, et al. Commun Med (Lond). 2024 Sep 10;4(1):175. doi: 10.1038/s43856-024-00605-9. Commun Med (Lond). 2024. PMID: 39256476 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. 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.
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