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Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogli A, Zara F, Traverso M, Fasham J, Lees JA, Ferla MP, Chioza BA, Wenger O, Scott E, Cross HE, Crawford J, Warshawsky I, Keisling M, Agamanolis D, Ward Melver C, Cox H, Elawad M, Marton T, Wakeling MN, Holzinger D, Tippelt S, Munteanu M, Valcheva D, Deal C, Van Meerbeke S, Walsh Vockley C, Butte MJ, Acar U, van der Knaap MS, Korenke GC, Kotzaeridou U, Balla T, Simons C, Uhlig HH, Crosby AH, De Camilli P, Wolf NI, Baple EL. Salter CG, et al. Among authors: balla t. Brain. 2021 Dec 31;144(12):3597-3610. doi: 10.1093/brain/awab313. Brain. 2021. PMID: 34415310 Free PMC article.
Pharmacological and genetic targeting of the PI4KA enzyme reveals its important role in maintaining plasma membrane phosphatidylinositol 4-phosphate and phosphatidylinositol 4,5-bisphosphate levels.
Bojjireddy N, Botyanszki J, Hammond G, Creech D, Peterson R, Kemp DC, Snead M, Brown R, Morrison A, Wilson S, Harrison S, Moore C, Balla T. Bojjireddy N, et al. Among authors: balla t. J Biol Chem. 2014 Feb 28;289(9):6120-32. doi: 10.1074/jbc.M113.531426. Epub 2014 Jan 10. J Biol Chem. 2014. PMID: 24415756 Free PMC article.
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
Dafsari HS, Pemberton JG, Ferrer EA, Yammine T, Farra C, Mohammadi MH, Ghayoor Karimiani E, Hashemi N, Souaid M, Sabbagh S, Najarzadeh Torbati P, Khan S, Roze E, Moreno-De-Luca A, Bertoli-Avella AM, Houlden H, Balla T, Maroofian R. Dafsari HS, et al. Among authors: balla t. Ann Clin Transl Neurol. 2022 Sep;9(9):1345-1358. doi: 10.1002/acn3.51634. Epub 2022 Jul 25. Ann Clin Transl Neurol. 2022. PMID: 35880319 Free PMC article.
Recruitment and activation of a lipid kinase by hepatitis C virus NS5A is essential for integrity of the membranous replication compartment.
Reiss S, Rebhan I, Backes P, Romero-Brey I, Erfle H, Matula P, Kaderali L, Poenisch M, Blankenburg H, Hiet MS, Longerich T, Diehl S, Ramirez F, Balla T, Rohr K, Kaul A, Bühler S, Pepperkok R, Lengauer T, Albrecht M, Eils R, Schirmacher P, Lohmann V, Bartenschlager R. Reiss S, et al. Among authors: balla t. Cell Host Microbe. 2011 Jan 20;9(1):32-45. doi: 10.1016/j.chom.2010.12.002. Cell Host Microbe. 2011. PMID: 21238945 Free PMC article.
Genetic and functional studies of phosphatidyl-inositol 4-kinase type IIIα.
Szentpetery Z, Szakacs G, Bojjireddy N, Tai AW, Balla T. Szentpetery Z, et al. Among authors: balla t. Biochim Biophys Acta. 2011 Jul-Aug;1811(7-8):476-83. doi: 10.1016/j.bbalip.2011.04.013. Epub 2011 May 13. Biochim Biophys Acta. 2011. PMID: 21601653 Free PMC article.
224 results