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Page 1
Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors.
Bazua-Valenti S, Brown MR, Zavras J, Riedl Khursigara M, Grinkevich E, Sidhom EH, Keller KH, Racette M, Dvela-Levitt M, Quintanova C, Demirci H, Sewerin S, Goss AC, Lin J, Yoo H, Vaca Jacome AS, Papanastasiou M, Udeshi N, Carr SA, Himmerkus N, Bleich M, Mutig K, Bachmann S, Halbritter J, Kmoch S, Živná M, Kidd K, Bleyer AJ, Weins A, Alper SL, Shaw JL, Kost-Alimova M, Pablo JLB, Greka A. Bazua-Valenti S, et al. Among authors: kmoch s. J Clin Invest. 2024 Dec 16;134(24):e180347. doi: 10.1172/JCI180347. J Clin Invest. 2024. PMID: 39680459 Free PMC article.
Influence of glycoprotein MUC1 on trafficking of the Ca2+-selective ion channels, TRPV5 and TRPV6, and on in vivo calcium homeostasis.
Al-Bataineh MM, Kinlough CL, Marciszyn A, Lam T, Ye L, Kidd K, Maggiore JC, Poland PA, Kmoch S, Bleyer A, Bain DJ, Montalbetti N, Kleyman TR, Hughey RP, Ray EC. Al-Bataineh MM, et al. Among authors: kmoch s. J Biol Chem. 2023 Mar;299(3):102925. doi: 10.1016/j.jbc.2023.102925. Epub 2023 Jan 20. J Biol Chem. 2023. PMID: 36682497 Free PMC article.
Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient Kidneys.
Airik M, Arbore H, Childs E, Huynh AB, Phua YL, Chen CW, Aird K, Bharathi S, Zhang B, Conlon P, Kmoch S, Kidd K, Bleyer AJ, Vockley J, Goetzman E, Wipf P, Airik R. Airik M, et al. Among authors: kmoch s. Antioxidants (Basel). 2023 Apr 8;12(4):900. doi: 10.3390/antiox12040900. Antioxidants (Basel). 2023. PMID: 37107275 Free PMC article.
Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response.
Živná M, Dostálová G, Barešová V, Mušálková D, Svojšová K, Meiseles D, Kinstlinger S, Kuchař L, Asfaw B, Poupětová H, Vlášková H, Kmochová T, Vyleťal P, Hartmannová H, Hodaňová K, Stránecký V, Steiner-Mrázová L, Hnízda A, Živný J, Radina M, Votruba M, Sovová J, Trešlová H, Stolnaja L, Reková P, Roblová L, Honsová E, Rychlík I, Dvela-Levitt M, Bleyer AJ, Linhart A, Sikora J, Kmoch S. Živná M, et al. Among authors: kmoch s. J Am Soc Nephrol. 2024 Nov 12. doi: 10.1681/ASN.0000000535. Online ahead of print. J Am Soc Nephrol. 2024. PMID: 39704415 No abstract available.
Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat.
Šilhavý J, Mlejnek P, Šimáková M, Liška F, Malínská H, Marková I, Hüttl M, Miklánková D, Mušálková D, Stránecký V, Kmoch S, Sticová E, Vrbacký M, Mráček T, Pravenec M. Šilhavý J, et al. Among authors: kmoch s. Physiol Genomics. 2024 Jan 1;56(1):65-73. doi: 10.1152/physiolgenomics.00084.2023. Epub 2023 Nov 13. Physiol Genomics. 2024. PMID: 37955133
Haplotype variability in mitochondrial rRNA predisposes to metabolic syndrome.
Pecina P, Čunátová K, Kaplanová V, Puertas-Frias G, Šilhavý J, Tauchmannová K, Vrbacký M, Čajka T, Gahura O, Hlaváčková M, Stránecký V, Kmoch S, Pravenec M, Houštěk J, Mráček T, Pecinová A. Pecina P, et al. Among authors: kmoch s. Commun Biol. 2024 Sep 11;7(1):1116. doi: 10.1038/s42003-024-06819-w. Commun Biol. 2024. PMID: 39261587 Free PMC article.
166 results