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Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Kaiyrzhanov R, et al. Among authors: reipert s. Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi: 10.1016/j.ajhg.2022.07.007. Am J Hum Genet. 2022. PMID: 36055214 Free PMC article.
Novel components of an active mitochondrial K(+)/H(+) exchange.
Zotova L, Aleschko M, Sponder G, Baumgartner R, Reipert S, Prinz M, Schweyen RJ, Nowikovsky K. Zotova L, et al. Among authors: reipert s. J Biol Chem. 2010 May 7;285(19):14399-414. doi: 10.1074/jbc.M109.059956. Epub 2010 Mar 2. J Biol Chem. 2010. PMID: 20197279 Free PMC article.
Targeted inactivation of a developmentally regulated neural plectin isoform (plectin 1c) in mice leads to reduced motor nerve conduction velocity.
Fuchs P, Zörer M, Reipert S, Rezniczek GA, Propst F, Walko G, Fischer I, Bauer J, Leschnik MW, Lüscher B, Thalhammer JG, Lassmann H, Wiche G. Fuchs P, et al. Among authors: reipert s. J Biol Chem. 2009 Sep 25;284(39):26502-9. doi: 10.1074/jbc.M109.018150. Epub 2009 Jul 22. J Biol Chem. 2009. PMID: 19625254 Free PMC article.
Interaction with Ribosomal Proteins Accompanies Stress Induction of the Anticancer Metallodrug BOLD-100/KP1339 in the Endoplasmic Reticulum.
Neuditschko B, Legin AA, Baier D, Schintlmeister A, Reipert S, Wagner M, Keppler BK, Berger W, Meier-Menches SM, Gerner C. Neuditschko B, et al. Among authors: reipert s. Angew Chem Int Ed Engl. 2021 Mar 1;60(10):5063-5068. doi: 10.1002/anie.202015962. Epub 2021 Feb 1. Angew Chem Int Ed Engl. 2021. PMID: 33369073 Free PMC article.
63 results