
Students / Alumni Publications
2021
Schiffer I, Gerisch B, Kawamura K, Laboy R, Hewitt J, Denzel MS, Mori MA, Vanapalli S, Shen Y, Symmons O, Antebi A, "miR-1 coordinately regulates lysosomal v-ATPase and biogenesis to affect muscle contractility upon proteotoxic challenge during ageing" biorxiv (2021), doi: doi.org/10.1101/2021.01.21.427623
2020
Allmeroth, K., M. Horn, V. Kroef, S. Miethe, R.-U. Müller, M. S. Denzel, "Bortezomib resistance mutations in PSMB5 determine response to second-generation proteasome inhibitors in multiple myeloma", Leukemia (2020), https://doi.org/10.1038/s41375-020-0989-4
Kim, C.S., D. Xiaolei, K. Allmeroth, M.S. Denzel, S. A. Eming, S. A. Wickström, "Glutamine Metabolism Controls Stem Cell Fate Reversibility and Long-Term Maintenance in the Hair Follicle", Cell Matabolism,2020 Sep 8,https://doi.org/10.1016/j.cmet.2020.08.011
da Silva, P. F. L. , Schumacher, B, "DNA damage responses in ageing" Open Biology 2019; 9 (11), article id: 190168.
Fernandes, S.A.,C.F. Almeida, L.S. Souza, M. Lazar, P. Onofre-Oliveira, G.L. Yamamoto, L. Nogueira, L.Y. Tasaki, R.R. Cardoso, R.C.M. Pavanello, H.C.A. Silva, M.F.R. Ferrari, A. Bigot, V. Mouly, M. Vainzof, "Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy", Disease Models & Mechanisms 2020; 13, dmm.041244.
Gerisch, B., R.G. Tharyan, J. Mak, S.I. Denzel, T. Popkes-van Oepen, N. Henn, A. Antebi, “HLH-30/TFEB Is a Master Regulator of Reproductive Quiescence”, Developmental Cell, 2020 May 4; 53(3): 316-329.
Laugsch, M., M. Bartusel, R. Rehimi, H. Alirzayeva, A. Karaolidou, G. Crispatzu, P. Zentis, M. Nikolic, T. Bleckwehl, P. Kolovos, WFJ. van Ijcken, T. Šarić, K. Koehler, P. Frommolt, K. Lachlan, J. Baptista, A. Rada-Iglesias, “Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs”, Cell Stem Cell, 2019 May 2; 24(5): 736-752.
Klausen, C., F. Kaiser, B. Stüven, J.N. Hansen, D. Wachten, “Elucidating Cyclic AMP Signaling in Subcellular Domains With Optogenetic Tools and Fluorescent Biosensors”, Biochemical Society Transactions 2019; 47 (6): 1733–1747.
Meyer, D. H., B. Schumacher, "A transcriptome based aging clock near the theoretical limit of accuracy", bioRxiv, 31 May 2020, https://doi.org/10.1101/2020.05.29.123430
Schiffer, I. B. Gerisch, K. Kawamura, R. Laboy, J. Hewitt, M. S. Denzel, M. A. Mori, S. Vanapalli, Y. Shen, O. Symmons, A. Antebi, "miR-1 coordinately regulates lysosomal v-ATPase and biogenesis to affect muscle contractility upon proteotoxic challenge during ageing" (preprint), doi: https://doi.org/10.1101/2021.01.21.427623.
Tharyan, R.G., A. Annibal, I. Schiffer, R.Laboy, I. Atanassov, A.L. Weber, B. Gerisch, A. Antebi, "NFYB-1 regulates mitochondrial function and longevity via lysosomal prosaposin", Nature Metabolism, 2020; 2(5): p. 387-396.
2019
Aleman, F. D. D., D. R. Valenzano, "Microbiome evolution during host aging", 15(7), PLoS Pathog, 2019.
Chapard, C., R. Jones, T. van Oepen, J.C. Scheinost, K. Nasmyth, "Sister DNA Entrapment between Juxtaposed Smc Heads and Kleisin of the Cohesin Complex", Jul 25; 75(2): 224–237, Mol Cell, 2019.
da Silva, P. F. L., M. Ogrodnik, O. Kucheryavenko, et al., "The bystander effect contributes to the accumulation of senescent cells in vivo", 18, Aging Cell, 2019.
Debès, C., A.C. Leote, A. Beyer, "Computational approaches for the systematic analysis of aging-associated molecular alterations", 27, pp.51-59, Drug Discovery Today: Disease Models, 2019.
Ivanova, S., M. Polajnar, A. J. Narbona-Perez, M. I. Hernandez-Alvarez, P. Frager, K. Slobodnyuk, N. Plana, A. R. Nebreda, M. Palacin, R. R. Gomis, C. Behrends, A. Zorzano, "Regulation of death receptor signaling by the autophagy protein", EMBO J, 2019.
Lausch, M., M. Bartusel, R. Rehimi, H. Alirzayeva, A. Karaolidou, G. Crispatzu, P. Zentis, M. Nikolic, T. Bleckwehl, P. Kolovos, W. FJ van Ijcken, T. Šarić, K. Koehler, P. Frommolt, K. Lachlan, J. Baptista, A. Rada-Iglesias, “Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs”. Cell Stem Cell. 2019 May 2; 24(5): 736-752.
Morón-Oset, J., T. Supèr, J. Esser et al., "Glycine-alanine dipeptide repeats spread rapidly in a repeat length- and age-dependent manner in the fly brain". Acta neuropathol commun, 7, 209 (2019).
Ribeiro Jr. A.F., L.S. Souza, C.F. Almeida, R. Ishiba, S.A. Fernandes, D.A. Guerrieri, A.L.F. Santos, P.C.G Onofre-Oliveira, M. Vainzo, "Muscle satellite cells and impaired late stage regeneration in different murine models for muscular dystrophies", Aug 14, 9:11842, Scientific Reports, 2019.
2018
Balaji, V., W. Pokrzywa, and T. Hoppe, “Ubiquitylation Pathways In Insulin Signaling and Organismal Homeostasis,” BioEssays, vol. 1700223, pp. 1–10, 2018.
de Vrij, F. M., C. G. Bouwkamp, N. Gunhanlar, G. Shpak, B. Lendemeijer, M. Baghdadi, S. Gopalakrishna, M. Ghazvini, T. M. Li, M. Quadri, S. Olgiati, G. J. Breedveld, M. Coesmans, E. Mientjes, T. de Wit, F. W. Verheijen, H. B. Beverloo, D. Cohen, R. M. Kok, P. R. Bakker, A. Nijburg, A. T. Spijker, P. M. J. Haffmans, E. Hoencamp, V. Bergink, J. A. Vorstman, T. Wu, L. M. Olde Loohuis, N. Amin, C. D. Langen, A. Hofman, W. J. Hoogendijk, C. M. van Duijn, M. A. Ikram, M. W. Vernooij, H. Tiemeier, A. G. Uitterlinden, Y. Elgersma, B. Distel, J. Gribnau, T. White, V. Bonifati, and S. A. Kushner, “Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia,” Molecular Psychiatry, pp. 1–15, 2018.
Kern, L., M. J. Mittenbühler, A. J. Vesting, A. L. Ostermann, C. M. Wunderlich, F. T. Wunderlich, “Obesity-Induced TNFα and IL-6 Signaling: The Missing Link between Obesity and Inflammation-Driven Liver and Colorectal Cancers”, Cancers, 2018.
Medeiros, T. C., R. L. Thomas, R. Ghillebert, and M. Graef, “Autophagy balances mtDNA synthesis and degradation by DNA polymerase POLG during starvation.,” J. Cell Biol., p. jcb.201801168, 2018.
Mittenbühler, M.J., H-G Sprenger, S. Gruber, C. M. Wunderlich, L. Kern, J. C. Brüning, F. T. Wunderlich, “Hepatic leptin receptor expression can partially compensate for IL-6Rα deficiency in DEN-induced hepatocellular carcinoma”, Mol. Met., 2018.
Noormohammadi, A., G. Calculli, R. Gutierrez-Garcia, A. Khodakarami, S. Koyuncu, and D. Vilchez, “Mechanisms of protein homeostasis (proteostasis) maintain stem cell identity in mammalian pluripotent stem cells.,” Cell. Mol. Life Sci., vol. 75, no. 2, pp. 275–290, 2018.
Ou, H.-L. and B. Schumacher, “DNA damage responses and p53 in the aging process,” Blood, vol. 131, no. 5, pp. 488–495, 2018.
Patron, M., H.-G. Sprenger, and T. Langer, “m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration,” Cell Res., vol. 28, no. 3, pp. 296–306, 2018.
Saez, I., S. Koyuncu, R. Gutierrez-Garcia, C. Dieterich, and D. Vilchez, “Insights into the ubiquitin-proteasome system of human embryonic stem cells,” Sci. Rep., vol. 8, no. 1, 2018.
Welcker, D.*, M. Jain*, S. Khurshid*, M. Jokić, M. Höhne, A. Schmitt, P. Frommolt, C. M. Niessen, J. Spiro, T. Persigehl, M. Wittersheim, R. Büttner, M. Fanciulli, B. Schermer, H. C. Reinhardt, T. Benzing, and K. Höpker, “AATF suppresses apoptosis, promotes proliferation and is critical for Kras-driven lung cancer,” Oncogene, vol. 37, no. 11, pp. 1503–1518, 2018.
2017
Amin, N., F. De Vrij, M. Baghdadi, R. Brouwer, J. Van Rooij, O. Jovanova, A. Uitterlinden, A. Hofman, H. Janssen, S. D. Murad, R. Kraaij, J. Stedehouder, M. Van Den Hout, J. Kros, W. Van Ijcken, H. Tiemeier, S. Kushner, and C. Van Duijn, “A rare missense variant in RCL1 segregates with depression in extended families,” Molec. Psych., vol. 21, no. 10, pp. 1–7, 2017.
Artoni, F., Kreipke R.E., Palmeira, O., Dixon C., Goldberg, Z., Ruohola-Baker H. (2017). “Loss of foxo rescues stem cell aging in Drosophila germ line”. eLife, 2017.
Ganesan, R., N. J. Hos, S. Gutierrez, J. Fischer, N. Robinson, M. Stepek, E. Daglidu, and M. Kro, “Salmonella Typhimurium disrupts Sirt1 / AMPK checkpoint control of mTOR to impair autophagy,” PLOS Pathog., 13(2), pp. 1–22, 2017.
Ibn-Salem, J., S. Meiers, O. Eigenbrod, R. Sehlke, S. Talyan, K. Schwan, R. Otto, A. Pataskar, F. Metge, and P. Angerer, “Highlights of the 1st Student Symposium on Computational Genomics,” Genomics Comput. Biol., vol. 2, no. 1, p. e59, 2017.
Koyuncu, S., A. Fatima, R. Gutierrez-Garcia, and D. Vilchez, “Proteostasis of huntingtin in health and disease,” International Journal of Molecular Sciences, vol. 18, no. 7. 2017.
Kühl, I.*, M. Miranda*, I. Atanassov, I. Kuznetsova, Y. Hinze, A. Mourier, A. Filipovska, and N. G. Larsson, “Transcriptomic and proteomic landscape of mitochondrial dysfunction reveals secondary coenzyme Q deficiency in mammals,” Elife, vol. 6, 2017.
Liu, H.*, J. A. Dowdle*, S. Khurshid*, N. J. Sullivan, N. Bertos, K. Rambani, M. Mair, P. Daniel, E. Wheeler, X. Tang, K. Toth, M. Lause, M. E. Harrigan, K. Eiring, C. Sullivan, M. J. Sullivan, S. W. Chang, S. Srivastava, J. S. Conway, R. Kladney, J. McElroy, S. Bae, Y. Lu, A. Tofigh, S. M. I. Saleh, S. A. Fernandez, J. D. Parvin, V. Coppola, E. R. Macrae, S. Majumder, C. L. Shapiro, L. D. Yee, B. Ramaswamy, M. Hallett, M. C. Ostrowski, M. Park, H. M. Chamberlin, and G. Leone, “Discovery of Stromal Regulatory Networks that Suppress Ras-Sensitized Epithelial Cell Proliferation,” Dev. Cell, vol. 41, no. 4, p. 392–407.e6, 2017.
López-Noriega, L., N. Cobo-Vuilleumier, Á. J. Narbona-Pérez, J. L. Araujo-Garrido, P. I. Lorenzo, J. M. Mellado-Gil, J. C. Moreno, B. R. Gauthier, A. Martín-Montalvo, "Levothyroxine enhances glucose clearance and blunts the onset of experimental type 1 diabetes mellitus in mice", Br J Pharmacol, 2017.
Moosa, S., H. Böhrer-Rabel, J. Altmüller, F. Beleggia, P. Nürnberg, Y. Li, G. Yigit, and B. Wollnik, “Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism,” Am. J. Med. Genet. Part A, vol. 173, no. 1, pp. 264–267, 2017.
Rinschen, M. M., F. Grahammer, A. Hoppe, P. Kohli, H. Hagmann, O. Kretz, S. Bertsch, M. Höhne, H. Göbel, M. P. Bartram, R. K. Gandhirajan, M. Krüger, P. Brinkkoetter, T. B. Huber, M. Kann, and S. A. Wickström, “YAP-mediated mechanotransduction determines the podocyte ’ s response to damage,” Sci Signal., vol. 8165, no. April, pp. 1–16, 2017.
Tain, L. S.*, R. Sehlke*, C. Jain, M. Chokkalingam, N. Nagaraj, P. Essers, M. Rassner, S. Grönke, J. Froelich, C. Dieterich, M. Mann, N. Alic, A. Beyer, and L. Partridge, “A proteomic atlas of insulin signalling reveals tissue‐specific mechanisms of longevity assurance,” Mol. Syst. Biol., vol. 13, no. 9, p. 939, 2017.
Tawo, R., W. Pokrzywa, E. Kevei, M. E. Akyuz, V. Balaji, S. Adrian, J. Höhfeld, and T. Hoppe, “The Ubiquitin Ligase CHIP Integrates Proteostasis and Aging by Regulation of Insulin Receptor Turnover,” Cell, vol. 169, pp. 470–482, 2017.
Van, T.-M., A. Polykratis, B. K. Straub, V. Kondylis, N. Papadopoulou, and M. Pasparakis, “Kinase-independent functions of RIPK1 regulate hepatocyte survival and liver carcinogenesis,” J. Clin. Invest., vol. 127, no. 7, pp. 2662–2677, 2017.
Weir, H. J., P. Yao, F. K. Huynh, C. C. Escoubas, R. L. Goncalves, K. Burkewitz, R. Laboy, M. D. Hirschey, and W. B. Mair, “Dietary Restriction and AMPK Increase Lifespan via Mitochondrial Network and Peroxisome Remodeling,” Cell Metab., vol. 26, no. 6, p. 884–896.e5, 2017.
2016
Aguilar-Lopez, J. L., R. Laboy, F. Jaimes-Miranda, E. Garay, A. DeLuna, and S. Funes, “Slm35 links mitochondrial stress response and longevity through TOR signaling pathway,” Aging (Albany. NY)., vol. 8, no. 12, pp. 3255–3271, 2016.
Burnouf, S., S. Grönke, H. Augustin, J. Dols, M. K. Gorsky, J. Werner, F. Kerr, N. Alic, P. Martinez, and L. Partridge, “Deletion of endogenous Tau proteins is not detrimental in Drosophila.,” Sci. Rep., vol. 6, no. February, p. 23102, 2016.
Bögershausen, N., U. Altunoglu, F. Beleggia, G. Yigit, H. Kayserili, P. Nürnberg, Y. Li, J. Altmüller, and B. Wollnik, “An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity,” Am. J. Med. Genet. Part A, vol. 170, no. 12, pp. 3282–3288, 2016.
Cacciola, N. A., C. Calabrese, U. Malapelle, G. Pellino, A. De Stefano, R. Sepe, R. Sgariglia, C. Quintavalle, A. Federico, A. Bianco, A. Uchimura Bastos, M. Milone, C. Bellevicine, F. Milone, C. Carlomagno, F. Selvaggi, G. Troncone, A. Fusco, and P. Pallante, “UbcH10 expression can predict prognosis and sensitivity to the antineoplastic treatment for colorectal cancer patients,” Mol. Carcinog., vol. 55, no. 5, pp. 793–807, 2016.
Cimen, I., B. Kocaturk, S. Koyuncu, O. Tufanl , U. I. Onat, A. D. Y ld r m, O. Apayd n, eyma Demirsoy, Z. G. Aykut, U. T. Nguyen, S. M. Watkins, G. S. Hotam l gil, and E. Erbay, “Prevention of atherosclerosis by bioactive palmitoleate through suppression of organelle stress and inflammasome activation,” Sci. Transl. Med., vol. 8, no. 358, p. 358ra126-358ra126, 2016.
Glenewinkel, F., M. J. Cohen, C. R. King, S. Kaspar, S. Bamberg-Lemper, J. S. Mymryk, and W. Becker, “The adaptor protein DCAF7 mediates the interaction of the adenovirus E1A oncoprotein with the protein kinases DYRK1A and HIPK2,” Sci. Rep., vol. 6, no. 1, p. 28241, 2016.
Gorsky, M. K., S. Burnouf, J. Dols, E. Mandelkow, and L. Partridge, “Acetylation mimic of lysine 280 exacerbates human Tau neurotoxicity in vivo.,” Sci Rep, vol. 6, no. February, p. 22685, 2016.
Guelinckx, I., G. Tavoularis, J. König, C. Morin, H. Gharbi, and J. Gandy, “Contribution of water from food and fluids to total water intake: Analysis of a French and UK population surveys,” Nutrients, vol. 8, no. 10, 2016.
Hatzold, J., F. Beleggia, H. Herzig, J. Altmüller, P. Nürnberg, W. Bloch, B. Wollnik, and M. Hammerschmidt, “Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit,” Elife, vol. 5, no. MAY2016, 2016.
Kochan, D. Z. and O. Kovalchuk, “Circadian disruption-induced breast cancer - knowns and unknowns,” Cell Cycle, vol. 15, no. 5. pp. 613–614, 2016.
Kochan, D. Z., Y. Ilnytskyy, A. Golubov, S. H. Deibel, R. J. McDonald, and O. Kovalchuk, “Circadian-disruption-induced gene expression changes in rodent mammary tissues.,” Oncoscience, vol. 3, no. 2, pp. 58–70, 2016.
Koehler, S., S. Brähler, A. Kuczkowski, J. Binz, M. J. Hackl, H. Hagmann, M. Höhne, M. C. Vogt, C. M. Wunderlich, F. T. Wunderlich, F. Schweda, B. Schermer, T. Benzing, and P. T. Brinkkoetter, “Single and Transient Ca(2+) Peaks in Podocytes do not induce Changes in Glomerular Filtration and Perfusion.,” Sci. Rep., vol. 6, p. 35400, 2016.
Korwitz, A., C. Merkwirth, R. Richter-Dennerlein, S. E. Tröder, H. G. Sprenger, P. M. Quirós, C. López-Otín, E. I. Rugarli, and T. Langer, “Loss of OMA1 delays neurodegeneration by preventing stress-induced OPA1 processing in mitochondria,” J. Cell Biol., vol. 212, no. 2, pp. 157–166, 2016.
König, T., S. E. Tröder, K. Bakka, A. Korwitz, R. Richter-Dennerlein, P. A. Lampe, M. Patron, M. Mühlmeister, S. Guerrero-Castillo, U. Brandt, T. Decker, I. Lauria, A. Paggio, R. Rizzuto, E. I. Rugarli, D. De Stefani, and T. Langer, “The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria,” Mol. Cell, vol. 64, no. 1, pp. 148–162, 2016.
Kühl, I., M. Miranda, V. Posse, D. Milenkovic, A. Mourier, S. J. Siira, N. A. Bonekamp, U. Neumann, A. Filipovska, P. L. Polosa, C. M. Gustafsson, and N.-G. Larsson, “POLRMT regulates the switch between replication primer formation and gene expression of mammalian mtDNA.,” Sci. Adv., vol. 2, no. 8, p. e1600963, 2016.
Kühn, A. B., D. L. Feis, L. Schilbach, L. Kracht, M. E. Hess, J. Mauer, J. C. Brüning, and M. Tittgemeyer, “FTO gene variant modulates the neural correlates of visual food perception,” Neuroimage, vol. 128, pp. 21–31, 2016.
Lal, D., B. A. Neubauer, M. R. Toliat, J. Altmöller, H. Thiele, P. Nörnberg, C. Kamrath, A. Schänzer, T. Sander, A. Hahn, and M. Nothnagel, “Increased probability of co-occurrence of two rare diseases in consanguineous families and resolution of a complex phenotype by next generation sequencing,” PLoS One, vol. 11, no. 1, 2016.
Lal, D., E. M. Reinthaler, B. Dejanovic, P. May, H. Thiele, A. E. Lehesjoki, G. Schwarz, E. Riesch, M. A. Ikram, C. M. Van Duijn, A. G. Uitterlinden, A. Hofman, H. Steinböck, U. Gruber-Sedlmayr, B. Neophytou, F. Zara, A. Hahn, P. Gormley, F. Becker, Y. G. Weber, M. R. Cilio, W. S. Kunz, R. Krause, F. Zimprich, J. R. Lemke, P. Nürnberg, T. Sander, H. Lerche, et al., “Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes,” PLoS One, vol. 11, no. 3, 2016.
Lemke, J. R., K. Geider, K. L. Helbig, H. O. Heyne, H. Schütz, J. Hentschel, C. Courage, C. Depienne, C. Nava, D. Heron, R. S. Møller, H. Hjalgrim, D. Lal, B. A. Neubauer, P. Nürnberg, H. Thiele, G. Kurlemann, G. L. Arnold, V. Bhambhani, D. Bartholdi, C. R. J. Pedurupillay, D. Misceo, E. Frengen, P. Strømme, D. J. Dlugos, E. S. Doherty, E. K. Bijlsma, et al., “Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy,” Neurology, vol. 86, no. 23, pp. 2171–2178, 2016.
Lin, J., S. Kumari, C. Kim, T. M. Van, L. Wachsmuth, A. Polykratis, and M. Pasparakis, “RIPK1 counteracts ZBP1-mediated necroptosis to inhibit inflammation,” Nature, pp. 1–16, 2016.
Lotan, Y., J. Antonelli, I. B. Jiménez, H. Gharbi, R. Herring, A. Beaver, A. Dennis, D. von Merveldt, S. Carter, A. Cohen, J. Poindexter, O. W. Moe, and M. S. Pearle, “The kidney stone and increased water intake trial in steel workers: results from a pilot study,” Urolithiasis, pp. 1–7, 2016.
Manjunath, G. P., N. Soni, P. L. Vaddavalli, D. J. Shewale, M. S. Madhusudhan, and K. Muniyappa, “Molecular Mechanism Underlying ATP-Induced Conformational Changes in the Nucleoprotein Filament of Mycobacterium smegmatis RecA,” Biochemistry, vol. 55, no. 12, pp. 1850–1862, 2016.
Naranjo, J. R., H. Zhang, D. Villar, P. González, X. M. Dopazo, J. Morón-Oset, E. Higueras, J. C. Oliveros, M. D. Arrabal, A. Prieto, P. Cercós, T. González, A. De La Cruz, J. Casado-Vela, A. Rábano, C. Valenzuela, M. Gutierrez-Rodriguez, J. Y. Li, and B. Mellström, “Activating transcription factor 6 derepression mediates neuroprotection in Huntington disease,” J. Clin. Invest., vol. 126, no. 2, pp. 627–638, 2016.
Naser, R., R. Vandenbosch, S. Omais, D. Hayek, C. Jaafar, S. Al Lafi, A. Saliba, M. Baghdadi, L. Skaf, and N. Ghanem, “Role of the Retinoblastoma protein, Rb, during adult neurogenesis in the olfactory bulb,” Sci. Rep., vol. 6, no. 1, p. 20230, 2016.
Pal, D. K., C. Ferrie, L. Addis, T. Akiyama, G. Capovilla, R. Caraballo, A. De Saint-Martin, N. Fejerman, R. Guerrini, K. Hamandi, I. Helbig, A. A. Ioannides, K. Kobayashi, D. Lal, G. Lesca, H. Muhle, B. A. Neubauer, T. Pisano, G. Rudolf, C. Seegmuller, T. Shibata, A. Smith, P. Striano, L. J. Strug, P. Szepetowski, T. Valeta, H. Yoshinaga, and M. Koutroumanidis, “Idiopathic focal epilepsies: The lost tribe,” Epileptic Disorders, vol. 18, no. 3. pp. 252–288, 2016.
Noormohammadi, A., A. Khodakarami, R. Gutierrez-Garcia, H. J. Lee, S. Koyuncu, T. König, C. Schindler, I. Saez, A. Fatima, C. Dieterich, and D. Vilchez, “Somatic increase of CCT8 mimics proteostasis of human pluripotent stem cells and extends C. elegans lifespan,” Nat. Commun., vol. 7, p. 13649, 2016.
Oliverio, M., E. Schmidt, J. Mauer, C. Baitzel, N. Hansmeier, S. Khani, S. Konieczka, M. Pradas-Juni, S. Brodesser, T. M. Van, D. Bartsch, H. S. Brönneke, M. Heine, H. Hilpert, E. Tarcitano, G. A. Garinis, P. Frommolt, J. Heeren, M. A. Mori, J. C. Brüning, and J.-W. Kornfeld, “Dicer1-miR-328-Bace1 signalling controls brown adipose tissue differentiation and function.,” Nat. Cell Biol., vol. 18, no. 3, pp. 328–36, 2016.
Ou, H.-L., D. Sun, Y.-C. Peng, and Y.-L. Wu, “Novel effects of the cyclooxygenase-2-selective inhibitor NS-398 on IL-1 -induced cyclooxygenase-2 and IL-8 expression in human ovarian granulosa cells,” Innate Immun., vol. 22, no. 6, pp. 452–465, 2016.
Silva Ramos, E., N. G. Larsson, and A. Mourier, “Bioenergetic roles of mitochondrial fusion,” Biochim. Biophys. Acta - Bioenerg., vol. 1857, no. 8, pp. 1277–1283, 2016.
Steculorum, S. M., J. Ruud, I. Karakasilioti, H. Backes, L. Engström Ruud, K. Timper, M. E. Hess, E. Tsaousidou, J. Mauer, M. C. Vogt, L. Paeger, S. Bremser, A. C. Klein, D. A. Morgan, P. Frommolt, P. T. Brinkkötter, P. Hammerschmidt, T. Benzing, K. Rahmouni, F. T. Wunderlich, P. Kloppenburg, and J. C. Brüning, “AgRP Neurons Control Systemic Insulin Sensitivity via Myostatin Expression in Brown Adipose Tissue,” Cell, vol. 165, no. 1, pp. 125–138, 2016.
Teixeira, V., T. C. Medeiros, R. Vilaça, J. Ferreira, P. Moradas-Ferreira, and V. Costa, “Ceramide signaling targets the PP2A-like protein phosphatase Sit4p to impair vacuolar function, vesicular trafficking and autophagy in Isc1p deficient cells,” Biochim. Biophys. Acta - Mol. Cell Biol. Lipids, vol. 1861, no. 1, pp. 21–33, 2016.
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2015
Beleggia, F., Y. Li, J. Fan, N. H. Elcioglu, E. Toker, T. Wieland, I. H. Maumenee, N. A. Akarsu, T. Meitinger, T. M. Strom, R. Lang, and B. Wollnik, “CRIM1 haploinsufficiency causes defects in eye development in human and mouse,” Hum. Mol. Genet., vol. 24, no. 8, pp. 2267–2273, 2015.
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2014
Dejanovic, B., D. Lal, C. B. Catarino, S. Arjune, A. A. Belaidi, H. Trucks, C. Vollmar, R. Surges, W. S. Kunz, S. Motameny, J. Altmüller, A. Köhler, B. A. Neubauer, EPICURE Consortium, P. Nürnberg, S. Noachtar, G. Schwarz, and T. Sander, “Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy,” Neurobiol. Dis., vol. 67, pp. 88–96, 2014.
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Reinthaler, E. M., D. Lal, W. Jurkowski, M. Feucht, H. Steinböck, U. Gruber-Sedlmayr, G. M. Ronen, J. Geldner, E. Haberlandt, B. Neophytou, A. Hahn, J. Altmüller, H. Thiele, M. R. Toliat, H. Lerche, P. Nürnberg, T. Sander, B. A. Neubauer, and F. Zimprich, “Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy,” Epilepsia, vol. 55, no. 8, 2014.
Reinthaler, E. M., D. Lal, S. Lebon, M. S. Hildebrand, H. H. M. Dahl, B. M. Regan, M. Feucht, H. Steinböck, B. Neophytou, G. M. Ronen, L. Roche, U. Gruber-Sedlmayr, J. Geldner, E. Haberlandt, P. Hoffmann, S. Herms, C. Gieger, M. Waldenberger, A. Franke, M. Wittig, S. Schoch, A. J. Becker, A. Hahn, K. Männik, M. R. Toliat, G. Winterer, H. Lerche, P. Nürnberg, H. Mefford, I. E. Scheffer, S. F. Berkovic, J. S. Beckmann, T. Sander, S. Jacquemont, A. Reymond, F. Zimprich, and B. A. Neubauer, “16p11.2 600 kb duplications confer risk for typical and atypical rolandic epilepsy,” Hum. Mol. Genet., vol. 23, no. 22, pp. 6069–6080, 2014.
Rinschen, M. M., X. Wu, T. König, T. Pisitkun, H. Hagmann, C. Pahmeyer, T. Lamkemeyer, P. Kohli, N. Schnell, B. Schermer, S. Dryer, B. R. Brooks, P. Beltrao, M. Krueger, P. T. Brinkkoetter, and T. Benzing, “Phosphoproteomic Analysis Reveals Regulatory Mechanisms at the Kidney Filtration Barrier.,” J. Am. Soc. Nephrol., vol. 25, no. 7, pp. 1509–1522, 2014.
Schreml, J., B. Durmaz, O. Cogulu, K. Keupp, F. Beleggia, E. Pohl, E. Milz, M. Coker, S. K. Ucar, G. Nürnberg, P. Nürnberg, J. Kuhn, and F. Ozkinay, “The missing ‘link’: An autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation,” Hum. Genet., vol. 133, no. 1, pp. 29–39, 2014
Teixeira, V., T. C. Medeiros, R. Vilaça, P. Moradas-ferreira, and V. Costa, “Reduced TORC1 signaling abolishes mitochondrial dysfunctions and shortened chronological lifespan of Isc1p-deficient cells,” Microb. Cell, vol. 1, no. 1, pp. 21–36, 2014.
Tellkamp, F., S. Vorhagen, and C. M. Niessen, “Epidermal polarity genes in health and disease,” Cold Spring Harb. Perspect. Med., vol. 4, no. 12, 2014.
Tellkamp, F., F. Benhadou, J. Bremer, M. Gnarra, J. Knüver, S. Schaffenrath, and S. Vorhagen, “Transgenic Mouse Technology in Skin Biology: Generation of Knockin Mice,” J. Invest. Dermatol., vol. 134, no. 12, p. e27, 2014.
Tsaousidou, E., L. Paeger, B. F. Belgardt, M. Pal, C. M. Wunderlich, H. Brönneke, U. Collienne, B. Hampel, F. T. Wunderlich, M. Schmidt-Supprian, P. Kloppenburg, and J. C. Brüning, “Distinct Roles for JNK and IKK Activation in Agouti-Related Peptide Neurons in the Development of Obesity and Insulin Resistance,” Cell Rep., vol. 9, no. 4, pp. 1495–1506, 2014.
Vogt, M. C., L. Paeger, S. Hess, S. M. Steculorum, M. Awazawa, B. Hampel, S. Neupert, H. T. Nicholls, J. Mauer, A. C. Hausen, R. Predel, P. Kloppenburg, T. L. Horvath, and J. C. Brüning, “Neonatal insulin action impairs hypothalamic neurocircuit formation in response to maternal high-fat feeding,” Cell, vol. 156, no. 3, pp. 495–509, 2014.
2013
Demirci, S., E. Koban Baştanlar, N. D. Dağtaş, E. Pişkin, A. Engin, F. Ozer, E. Yüncü, S. A. Doğan, and I. Togan, “Mitochondrial DNA diversity of modern, ancient and wild sheep(Ovis gmelinii anatolica) from Turkey: new insights on the evolutionary history of sheep.,” PLoS One, vol. 8, no. 12, p. e81952, 2013.
Ermolaeva, M. A., A. Segref, A. Dakhovnik, H.-L. Ou, J. I. Schneider, O. Utermöhlen, T. Hoppe, and B. Schumacher, “DNA damage in germ cells induces an innate immune response that triggers systemic stress resistance.,” Nature, vol. 501, no. 7467, pp. 416–420, 2013.
Frank, V., S. Habbig, M. P. Bartram, T. Eisenberger, H. E. Veenstra-Knol, C. Decker, R. A. C. Boorsma, H. Göbel, G. Nürnberg, A. Griessmann, M. Franke, L. Borgal, P. Kohli, L. A. Völker, J. Dötsch, P. Nürnberg, T. Benzing, H. J. Bolz, C. Johnson, E. H. Gerkes, B. Schermer, and C. Bergmann, “Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression,” Hum. Mol. Genet., vol. 22, no. 11, pp. 2177–2185, 2013.
Gharbi, H., F. Fabretti, P. Bharill, M. M. Rinschen, S. Brinkkötter, P. Frommolt, V. Burst, B. Schermer, T. Benzing, and R. U. Müller, “Loss of the Birt-Hogg-Dubé gene product folliculin induces longevity in a hypoxia-inducible factor-dependent manner,” Aging Cell, vol. 12, no. 4, pp. 593–603, 2013.
Hess, M.E., S. Hess, K. D. Meyer, L. a W. Verhagen, L. Koch, H. S. Brönneke, M. O. Dietrich, S. D. Jordan, Y. Saletore, O. Elemento, B. F. Belgardt, T. Franz, T. L. Horvath, U. Rüther, S. R. Jaffrey, P. Kloppenburg, and J. C. Brüning, “The fat mass and obesity associated gene (Fto) regulates activity of the dopaminergic midbrain circuitry.,” Nat. Neurosci., vol. 16, no. 8, pp. 1042–8, 2013.
Karra, E., O. G. O’Daly, A. I. Choudhury, A. Yousseif, S. Millership, M. T. Neary, W. R. Scott, K. Chandarana, S. Manning, M. E. Hess, H. Iwakura, T. Akamizu, Q. Millet, C. Gelegen, M. E. Drew, S. Rahman, J. J. Emmanuel, S. C. R. Williams, U. U. Rüther, J. C. Brüning, D. J. Withers, F. O. Zelaya, and R. L. Batterham, “A link between FTO, ghrelin, and impaired brain food-cue responsivity,” J. Clin. Invest., vol. 123, no. 8, pp. 3539–3551, 2013.
Keupp, K., F. Beleggia, H. Kayserili, A. M. Barnes, M. Steiner, O. Semler, B. Fischer, G. Yigit, C. Y. Janda, J. Becker, S. Breer, U. Altunoglu, J. Grünhagen, P. Krawitz, J. Hecht, T. Schinke, E. Makareeva, E. Lausch, T. Cankaya, J. A. Caparrós-Martín, P. Lapunzina, S. Temtamy, M. Aglan, B. Zabel, P. Eysel, F. Koerber, S. Leikin, K. C. Garcia, C. Netzer, E. Schönau, V. L. Ruiz-Perez, S. Mundlos, M. Amling, U. Kornak, J. Marini, and B. Wollnik, “Mutations in WNT1 cause different forms of bone fragility,” Am. J. Hum. Genet., vol. 92, no. 4, pp. 565–574, 2013.
Kornfeld, J.-W., C. Baitzel, a C. Könner, H. T. Nicholls, M. C. Vogt, K. Herrmanns, L. Scheja, C. Haumaitre, A. M. Wolf, U. Knippschild, J. Seibler, S. Cereghini, J. Heeren, M. Stoffel, and J. C. Brüning, “Obesity-induced overexpression of miR-802 impairs glucose metabolism through silencing of Hnf1b.,” Nature, vol. 494, no. 7435, pp. 111–5, 2013.
Lal, D., H. Trucks, R. S. Møller, H. Hjalgrim, B. P. C. Koeleman, C. G. F. De Kovel, F. Visscher, Y. G. Weber, H. Lerche, F. Becker, C. J. Schankin, B. A. Neubauer, R. Surges, W. S. Kunz, F. Zimprich, A. Franke, T. Illig, J. S. Ried, C. Leu, P. Nürnberg, T. Sander, et al., “Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy,” Epilepsia, vol. 54, no. 2, pp. 265–271, 2013.
Lal, D., K. Becker, S. Motameny, J. Altmüller, H. Thiele, P. Nürnberg, U. Ahting, B. Rolinski, B. A. Neubauer, and A. Hahn, “Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis,” Neurogenetics, vol. 14, no. 1. pp. 85–87, 2013.
Lal, D., E. M. Reinthaler, J. Altmüller, M. R. Toliat, H. Thiele, P. Nürnberg, H. Lerche, A. Hahn, R. S. Møller, H. Muhle, T. Sander, F. Zimprich, and B. A. Neubauer, “RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy,” PLoS One, vol. 8, no. 9, 2013.
Lemke, J. R., D. Lal, E. M. Reinthaler, I. Steiner, M. Nothnagel, M. Alber, K. Geider, B. Laube, M. Schwake, K. Finsterwalder, A. Franke, M. Schilhabel, J. A. Jähn, H. Muhle, R. Boor, W. Van Paesschen, R. Caraballo, N. Fejerman, S. Weckhuysen, P. De Jonghe, J. Larsen, R. S. Møller, H. Hjalgrim, L. Addis, S. Tang, E. Hughes, D. K. Pal, K. Veri, U. Vaher, T. Talvik, P. Dimova, et al., “Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.,” Nat. Genet., vol. 45, no. 9, pp. 1067–72, 2013.
Mullen, S. A., G. L. Carvill, S. Bellows, M. A. Bayly, H. Trucks, D. Lal, T. Sander, S. F. Berkovic, L. M. Dibbens, I. E. Scheffer, and C. Mefford, H, “Copy number variants are frequent in genetic generalized epilepsy with intellectual disability,” Neurology, vol. 81, no. 17, pp. 1507–1514, 2013.
Müller, R., C. Herr, S. K. Sukumaran, N. N. Omosigho, M. Plomann, T. Y. Riyahi, M. Stumpf, K. Swaminathan, M. Tsangarides, K. Yiannakou, R. Blau-Wasser, C. Gallinger, M. Schleicher, W. Kolanus, and A. a Noegel, “The cytohesin paralog Sec7 of Dictyostelium discoideum is required for phagocytosis and cell motility.,” Cell Commun. Signal., vol. 11, p. 54, 2013.
Newton, A. J., S. Hess, L. Paeger, M. C. Vogt, J. F. Lascano, E. A. Nillni, J. C. Brüning, P. Kloppenburg, and A. W. Xu, “AgRP innervation onto POMC neurons increases with age and is accelerated with chronic high-fat feeding in male mice,” Endocrinology, vol. 154, no. 1, pp. 172–183, 2013.
Niessen, M. T., J. Scott, J. G. Zielinski, S. Vorhagen, P. A. Sotiropoulou, C. Blanpain, M. Leitges, and C. M. Niessen, “Apkcγ controls epidermal homeostasis and stemcell fate through regulation of division orientation,” J. Cell Biol., vol. 202, no. 6, pp. 887–900, 2013.
Pohl, E., A. Aykut, F. Beleggia, E. Karaca, B. Durmaz, K. Keupp, E. Arslan, M. P. Onay, G. Yigit, F. Özkinay, and B. Wollnik, “A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome,” Hum. Genet., vol. 132, no. 11, pp. 1311–1320, 2013.
Potting, C., T. Tatsuta, T. König, M. Haag, T. Wai, M. J. Aaltonen, and T. Langer, “TRIAP1/PRELI complexes prevent apoptosis by mediating intramitochondrial transport of phosphatidic acid,” Cell Metab., vol. 18, no. 2, pp. 287–295, 2013.
Rossi, M., S. Duan, Y. T. Jeong, M. Horn, A. Saraf, L. Florens, M. P. Washburn, A. Antebi, and M. Pagano, “Regulation of the CRL4Cdt2 ubiquitin ligase and Cell-Cycle exit by the SCFFbxo11 ubiquitin ligase,” Mol. Cell, vol. 49, no. 6, pp. 1159–1166, 2013.
Steculorum, S. M., M. C. Vogt, and J. C. Brüning, “Perinatal Programming of Metabolic Diseases. Role of Insulin in the Development of Hypothalamic Neurocircuits,” Endocrinology and Metabolism Clinics of North America, vol. 42, no. 1. pp. 149–164, 2013.
Vogt, M. C. and J. C. Brüning, “CNS insulin signaling in the control of energy homeostasis and glucose metabolism – from embryo to old age,” Trends Endocrinol. Metab., vol. 24, no. 2, pp. 76–84, 2013.
Wieczorek, D., N. Bögershausen, F. Beleggia, S. Steiner-Haldenstätt, E. Pohl, Y. Li, E. Milz, M. Martin, H. Thiele, J. Altmüller, Y. Alanay, H. Kayserili, L. Klein-Hitpass, S. Böhringer, A. Wollstein, B. Albrecht, K. Boduroglu, A. Caliebe, K. Chrzanowska, O. Cogulu, F. Cristofoli, J. C. Czeschik, K. Devriendt, M. T. Dotti, N. Elcioglu, B. Gener, T. O. Goecke, M. Krajewska-Walasek, , et al., “A comprehensive molecular study on coffin-siris and nicolaides-baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling,” Hum. Mol. Genet., vol. 22, no. 25, pp. 5121–5135, 2013.
Yüncü, E., S. Demirci, E. Koban Baştanlar, Ş. A. Doǧan, U. Taşdemir, and N. Togan, “Comparative study of three simple molecular approaches in search of mtDNA haplogroup identification of domestic sheep,” Small Rumin. Res., vol. 114, no. 1, pp. 64–71, 2013.
2012
Thier, M., P. Wörsdörfer, Y. B. Lakes, R. Gorris, S. Herms, T. Opitz, D. Seiferling, T. Quandel, P. Hoffmann, M. M. Nöthen, O. Brüstle, and F. Edenhofer, “Direct conversion of fibroblasts into stably expandable neural stem cells,” Cell Stem Cell, vol. 10, no. 4, pp. 473–479, 2012.
Zeller, E., K. Mock, M. Horn, S. Colnot, M. Schwarz, and A. Braeuning, “Dual-specifi city phosphatases are targets of the Wnt/β-catenin pathway and candidate mediators of β-catenin/Ras signaling interactions,” Biol. Chem., vol. 393, no. 10, pp. 1183–1191, 2012.
2011
Dogan, S. A. and A. Trifunovic, “Modelling mitochondrial dysfunction in mice.,” Physiol. Res., vol. 60 Suppl 1, pp. S61-70, 2011.
Hou, Y. Y., H. L. Ou, S. T. Chu, P. C. Wu, P. J. Lu, C. C. Chi, K. W. Leung, C. Y. Lee, P. H. Wu, M. Hsiao, and L. P. Ger, “NAT2 slow acetylation haplotypes are associated with the increased risk of betel quidrelated oral and pharyngeal squamous cell carcinoma,” Oral Surgery, Oral Med. Oral Pathol. Oral Radiol. Endodontology, vol. 112, no. 4, pp. 484–492, 2011.
Kukat, A., D. Edgar, I. Bratic, P. Maiti, and A. Trifunovic, “Random mtDNA mutations modulate proliferation capacity in mouse embryonic fibroblasts,” Biochem. Biophys. Res. Commun., vol. 409, no. 3, pp. 394–399, 2011.
Yabas, M., C. E. Teh, S. Frankenreiter, D. Lal, C. M. Roots, B. Whittle, D. T. Andrews, Y. Zhang, N. C. Teoh, J. Sprent, E. Tze, E. M. Kucharska, J. Kofler, G. C. Farell, and S. Bröer, “ATP11c is critical for phosphatidylserine internalization and B lymphocyte differentiation,” Nat Immunol., vol. 12, no. 5, pp. 441–449, 2011.
2010
Kruttwig, K., C. Brueggemann, E. Kaijzel, S. Vorhagen, T. Hilger, C. Löwik, and M. Hoehn, “Development of a three-dimensional in vitro model for longitudinal observation of cell behavior: monitoring by magnetic resonance imaging and optical imaging.,” Mol. imaging Biol., vol. 12, no. 4, pp. 367–76, 2010.
Wu, Y.-L., Y. R. Kou, H.-L. Ou, H.-Y. Chien, K.-H. Chuang, H.-H. Liu, T.-S. Lee, C.-Y. Tsai, and M.-L. Lu, “Glucosamine regulation of LPS-mediated inflammation in human bronchial epithelial cells,” Eur. J. Pharmacol., vol. 635, no. 1–3, pp. 219–226, 2010.
2009
Follmann, M., I. Ochrombel, R. Krämer, C. Trötschel, A. Poetsch, C. Rückert, A. Hüser, M. Persicke, D. Seiferling, J. Kalinowski, and K. Marin, “Functional genomics of pH homeostasis in Corynebacterium glutamicum revealed novel links between pH response, oxidative stress, iron homeostasis and methionine synthesis.,” BMCGenomics, vol. 10, p. 621, 2009.