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CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
van Karnebeek CDM, Tarailo-Graovac M, Leen R, Meinsma R, Correard S, Jansen-Meijer J, Prykhozhij SV, Pena IA, Ban K, Schock S, Saxena V, Pras-Raves ML, Drögemöller BI, Grootemaat AE, van der Wel NN, Dobritzsch D, Roseboom W, Schomakers BV, Jaspers YRJ, Zoetekouw L, Roelofsen J, Ferreira CR, van der Lee R, Ross CJ, Kochan J, McIntyre RL, van Klinken JB, van Weeghel M, Kramer G, Weschke B, Labrune P, Willemsen MA, Riva D, Garavaglia B, Moeschler JB, Filiano JJ, Ekker M, Berman JN, Dyment D, Vaz FM, Wassermann WW, Houtkooper RH, van Kuilenburg ABP. van Karnebeek CDM, et al. Among authors: van weeghel m. Genet Med. 2024 Feb 24;26(6):101104. doi: 10.1016/j.gim.2024.101104. Online ahead of print. Genet Med. 2024. PMID: 38411040 Free article.
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM. van Kuilenburg ABP, et al. Among authors: van weeghel m, van vugt jjfa, van karnebeek cdm. N Engl J Med. 2019 Apr 11;380(15):1433-1441. doi: 10.1056/NEJMoa1806627. N Engl J Med. 2019. PMID: 30970188 Free PMC article.
Ophthalmic acid is a glutathione regulating tripeptide.
Schomakers BV, Jillings SL, van Weeghel M, Vaz FM, Salomons GS, Janssens GE, Houtkooper RH. Schomakers BV, et al. Among authors: van weeghel m. FEBS J. 2024 Jan 20. doi: 10.1111/febs.17061. Online ahead of print. FEBS J. 2024. PMID: 38245827
Anti-retroviral treatment with zidovudine alters pyrimidine metabolism, reduces translation, and extends healthy longevity via ATF-4.
McIntyre RL, Molenaars M, Schomakers BV, Gao AW, Kamble R, Jongejan A, van Weeghel M, van Kuilenburg ABP, Possemato R, Houtkooper RH, Janssens GE. McIntyre RL, et al. Among authors: van weeghel m, van kuilenburg abp. Cell Rep. 2023 Jan 31;42(1):111928. doi: 10.1016/j.celrep.2022.111928. Epub 2022 Dec 30. Cell Rep. 2023. PMID: 36640360 Free article.
Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.
Vaz FM, Staps P, van Klinken JB, van Lenthe H, Vervaart M, Wanders RJA, Pras-Raves ML, van Weeghel M, Salomons GS, Ferdinandusse S, Wevers RA, Willemsen MAAP. Vaz FM, et al. Among authors: van weeghel m, van lenthe h, van klinken jb. Biochim Biophys Acta Mol Cell Biol Lipids. 2024 Mar;1869(2):159447. doi: 10.1016/j.bbalip.2023.159447. Epub 2024 Jan 3. Biochim Biophys Acta Mol Cell Biol Lipids. 2024. PMID: 38181883 Free article.
Mitochondrial translation and dynamics synergistically extend lifespan in C. elegans through HLH-30.
Liu YJ, McIntyre RL, Janssens GE, Williams EG, Lan J, van Weeghel M, Schomakers B, van der Veen H, van der Wel NN, Yao P, Mair WB, Aebersold R, MacInnes AW, Houtkooper RH. Liu YJ, et al. Among authors: van weeghel m, van der wel nn, van der veen h. J Cell Biol. 2020 Jun 1;219(6):e201907067. doi: 10.1083/jcb.201907067. J Cell Biol. 2020. PMID: 32259199 Free PMC article.
Metabolomics and lipidomics in Caenorhabditis elegans using a single-sample preparation.
Molenaars M, Schomakers BV, Elfrink HL, Gao AW, Vervaart MAT, Pras-Raves ML, Luyf AC, Smith RL, Sterken MG, Kammenga JE, van Kampen AHC, Janssens GE, Vaz FM, van Weeghel M, Houtkooper RH. Molenaars M, et al. Among authors: van weeghel m, van kampen ahc. Dis Model Mech. 2021 Apr 1;14(4):dmm047746. doi: 10.1242/dmm.047746. Epub 2021 Apr 27. Dis Model Mech. 2021. PMID: 33653825 Free PMC article.
96 results