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Page 1
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. Bakey Z, et al. Among authors: van der wel nn. PLoS Genet. 2023 Jun 14;19(6):e1010796. doi: 10.1371/journal.pgen.1010796. eCollection 2023 Jun. PLoS Genet. 2023. PMID: 37315079 Free PMC article.
Platelets of COVID-19 patients display mitochondrial dysfunction, oxidative stress, and energy metabolism failure compatible with cell death.
Léopold V, Chouchane O, Butler JM, Schuurman AR, Michels EHA, de Brabander J, Schomakers BV, van Weeghel M, Picavet-Havik DI, Grootemaat AE, Douma RA, Reijnders TDY, Klarenbeek AM, Appelman B; Amsterdam University Medical Center COVID-19 Biobank Study [email protected]; Wiersinga WJ, van der Wel NN, den Dunnen J, Houtkooper RH, Van't Veer C, van der Poll T; Amsterdam University Medical Center COVID-19 Biobank Study Group. Léopold V, et al. Among authors: van der wel nn. Res Pract Thromb Haemost. 2023 Sep 28;7(7):102213. doi: 10.1016/j.rpth.2023.102213. eCollection 2023 Oct. Res Pract Thromb Haemost. 2023. PMID: 38077825 Free PMC article.
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, Wasserman WW, Houtkooper RH, van Kuilenburg ABP. van Karnebeek CDM, et al. Among authors: van der wel nn. Genet Med. 2024 Jun;26(6):101104. doi: 10.1016/j.gim.2024.101104. Epub 2024 Feb 24. Genet Med. 2024. PMID: 38411040 Free article.
The impact of bed rest on human skeletal muscle metabolism.
Eggelbusch M, Charlton BT, Bosutti A, Ganse B, Giakoumaki I, Grootemaat AE, Hendrickse PW, Jaspers Y, Kemp S, Kerkhoff TJ, Noort W, van Weeghel M, van der Wel NN, Wesseling JR, Frings-Meuthen P, Rittweger J, Mulder ER, Jaspers RT, Degens H, Wüst RCI. Eggelbusch M, et al. Among authors: van der wel nn. Cell Rep Med. 2024 Jan 16;5(1):101372. doi: 10.1016/j.xcrm.2023.101372. Cell Rep Med. 2024. PMID: 38232697 Free PMC article.
A terpene nucleoside from M. tuberculosis induces lysosomal lipid storage in foamy macrophages.
Bedard M, van der Niet S, Bernard EM, Babunovic G, Cheng TY, Aylan B, Grootemaat AE, Raman S, Botella L, Ishikawa E, O'Sullivan MP, O'Leary S, Mayfield JA, Buter J, Minnaard AJ, Fortune SM, Murphy LO, Ory DS, Keane J, Yamasaki S, Gutierrez MG, van der Wel N, Moody DB. Bedard M, et al. J Clin Invest. 2023 Mar 15;133(6):e161944. doi: 10.1172/JCI161944. J Clin Invest. 2023. PMID: 36757797 Free PMC article.
Pro-inflammatory T cells-derived cytokines enhance the maturation of the human fetal intestinal epithelial barrier.
Giugliano FP, Navis M, Ouahoud S, Garcia TM, Kreulen IAM, Ferrantelli E, Meisner S, Vermeulen JLM, van Roest M, Billaud JN, Koster J, Dawood Y, de Bakker BS, Picavet-Havik DI, Schimmel IM, van der Wel NN, Koelink PJ, Wildenberg ME, Derikx JPM, de Jonge WJ, Renes IB, van Elburg RM, Muncan V. Giugliano FP, et al. Among authors: van der wel nn. iScience. 2024 May 7;27(6):109909. doi: 10.1016/j.isci.2024.109909. eCollection 2024 Jun 21. iScience. 2024. PMID: 38812539 Free PMC article.
Skeletal muscle mitochondrial fragmentation predicts age-associated decline in physical capacity.
Goulding RP, Charlton BT, Breedveld EA, van der Laan M, Strating AR, Noort W, Kolodyazhna A, Appelman B, van Vugt M, Grootemaat AE, van der Wel NN, de Koning JJ, Bloemers FW, Wüst RCI. Goulding RP, et al. Among authors: van der wel nn. Aging Cell. 2024 Dec 4:e14386. doi: 10.1111/acel.14386. Online ahead of print. Aging Cell. 2024. PMID: 39630001 Free article.
75 results