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Page 1
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.
Bulthuis EP, Adjobo-Hermans MJW, de Potter B, Hoogstraten S, Wezendonk LHT, Tutakhel OAZ, Wintjes LT, van den Heuvel B, Willems PHGM, Kamsteeg EJ, Gozalbo MER, Sallevelt SCEH, Koudijs SM, Nicolai J, de Bie CI, Hoogendijk JE, Koopman WJH, Rodenburg RJ. Bulthuis EP, et al. Among authors: tutakhel oaz. Biochim Biophys Acta Mol Basis Dis. 2023 Dec;1869(8):166808. doi: 10.1016/j.bbadis.2023.166808. Epub 2023 Jul 16. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 37454773 Free article.
Comparing Approaches to Normalize, Quantify, and Characterize Urinary Extracellular Vesicles.
Blijdorp CJ, Tutakhel OAZ, Hartjes TA, van den Bosch TPP, van Heugten MH, Rigalli JP, Willemsen R, Musterd-Bhaggoe UM, Barros ER, Carles-Fontana R, Carvajal CA, Arntz OJ, van de Loo FAJ, Jenster G, Clahsen-van Groningen MC, Cuevas CA, Severs D, Fenton RA, van Royen ME, Hoenderop JGJ, Bindels RJM, Hoorn EJ. Blijdorp CJ, et al. Among authors: tutakhel oaz. J Am Soc Nephrol. 2021 May 3;32(5):1210-1226. doi: 10.1681/ASN.2020081142. Epub 2021 Mar 29. J Am Soc Nephrol. 2021. PMID: 33782168 Free PMC article.
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT. Wintjes LTM, et al. Among authors: tutakhel oaz. Hum Mutat. 2021 Feb;42(2):135-141. doi: 10.1002/humu.24137. Epub 2020 Nov 30. Hum Mutat. 2021. PMID: 33169484 Free PMC article.
Hydrochlorothiazide treatment increases the abundance of the NaCl cotransporter in urinary extracellular vesicles of essential hypertensive patients.
Pathare G, Tutakhel OAZ, van der Wel MC, Shelton LM, Deinum J, Lenders JWM, Hoenderop JGJ, Bindels RJM. Pathare G, et al. Among authors: tutakhel oaz. Am J Physiol Renal Physiol. 2017 Jun 1;312(6):F1063-F1072. doi: 10.1152/ajprenal.00644.2016. Epub 2017 Mar 8. Am J Physiol Renal Physiol. 2017. PMID: 28274929 Free article. Clinical Trial.