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Molecular basis of ClC-6 function and its impairment in human disease.
Zhang B, Zhang S, Polovitskaya MM, Yi J, Ye B, Li R, Huang X, Yin J, Neuens S, Balfroid T, Soblet J, Vens D, Aeby A, Li X, Cai J, Song Y, Li Y, Tartaglia M, Li Y, Jentsch TJ, Yang M, Liu Z. Zhang B, et al. Among authors: polovitskaya mm. Sci Adv. 2023 Oct 13;9(41):eadg4479. doi: 10.1126/sciadv.adg4479. Epub 2023 Oct 13. Sci Adv. 2023. PMID: 37831762 Free PMC article.
KCNQ5 Controls Perivascular Adipose Tissue-Mediated Vasodilation.
Tsvetkov D, Schleifenbaum J, Wang Y, Kassmann M, Polovitskaya MM, Ali M, Schütze S, Rothe M, Luft FC, Jentsch TJ, Gollasch M. Tsvetkov D, et al. Among authors: polovitskaya mm. Hypertension. 2024 Mar;81(3):561-571. doi: 10.1161/HYPERTENSIONAHA.123.21834. Epub 2023 Dec 28. Hypertension. 2024. PMID: 38354270
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L; CAUSES Study; van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estévez R, Jentsch TJ, Pusch M, Agrawal PB. Duncan AR, et al. Among authors: polovitskaya mm. Am J Hum Genet. 2021 Aug 5;108(8):1450-1465. doi: 10.1016/j.ajhg.2021.06.003. Epub 2021 Jun 28. Am J Hum Genet. 2021. PMID: 34186028 Free PMC article.
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
Polovitskaya MM, Barbini C, Martinelli D, Harms FL, Cole FS, Calligari P, Bocchinfuso G, Stella L, Ciolfi A, Niceta M, Rizza T, Shinawi M, Sisco K, Johannsen J, Denecke J, Carrozzo R, Wegner DJ, Kutsche K, Tartaglia M, Jentsch TJ. Polovitskaya MM, et al. Am J Hum Genet. 2020 Dec 3;107(6):1062-1077. doi: 10.1016/j.ajhg.2020.11.004. Epub 2020 Nov 19. Am J Hum Genet. 2020. PMID: 33217309 Free PMC article.