Source: https://www.ageing-grad-school.de/research/students-alumni-publications/
Timestamp: 2019-04-18 18:56:58+00:00

Document:
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.
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.
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.
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.
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.
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&gt;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.
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.
Rinschen, M. M., P. Bharill, X. Wu, P. Kohli, M. J. Reinert, O. Kretz, I. Saez, B. Schermer, M. Höhne, M. P. Bartram, S. Aravamudhan, B. R. Brooks, D. Vilchez, T. B. Huber, R. U. Müller, M. Krüger, and T. Benzing, “The ubiquitin ligase Ubr4 controls stability of podocin/MEC-2 supercomplexes,” Hum. Mol. Genet., vol. 25, no. 7, pp. 1328–1344, 2016.
Seiferling, D., K. Szczepanowska, C. Becker, K. Senft, S. Hermans, P. Maiti, T. König, A. Kukat, and A. Trifunovic, “Loss of CLPP alleviates mitochondrial cardiomyopathy without affecting the mammalian UPRmt,” EMBO Rep., vol. 17, no. 7, pp. 1–12, 2016.
Sukumaran, S. K., M. Stumpf, S. Salamon, I. Ahmad, K. Bhattacharya, S. Fischer, R. Müller, J. Altmüller, B. Budde, H. Thiele, M. Tariq, N. A. Malik, P. Nürnberg, S. M. Baig, M. S. Hussain, and A. A. Noegel, “CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly,” Mol. Genet. Genomics, vol. 292, no. 2, pp. 365–383, 2016.
Szczepanowska, K., P. Maiti, A. Kukat, E. Hofsetz, H. Nolte, K. Senft, C. Becker, B. Ruzzenente, H. Hornig‐Do, R. Wibom, R. J. Wiesner, M. Krüger, and A. Trifunovic, “CLPP coordinates mitoribosomal assembly through the regulation of ERAL1 levels,” EMBO J., p. e201694253, 2016.
Tekin, B., D. Yucelten, F. Beleggia, O. Sarig, and E. Sprecher, “Papillon-Lefèvre syndrome: report of six patients and identification of a novel mutation,” Int. J. Dermatol., vol. 55, no. 8, pp. 898–902, 2016.
Trikha, P., N. Sharma, C. Pena, A. Reyes, T. Pécot, S. Khurshid, M. Rawahneh, J. Moffitt, J. A. Stephens, S. A. Fernandez, M. C. Ostrowski, and G. Leone, “E2f3 in tumor macrophages promotes lung metastasis,” Oncogene, vol. 35, no. 28, pp. 3636–3646, 2016.
Wai, T., S. Saita, H. Nolte, S. Müller, T. König, R. Richter-dennerlein, H. G. Sprenger, J. Madrenas, M. Mühlmeister, U. Brandt, M. Krüger, and T. Langer, “The membrane scaffold SLP 2 anchors a proteolytic hub in mitochondria containing PARL and the i -AAA protease YME 1 L,” EMBO Rep., vol. 17, no. 12, pp. 1844–1856, 2016.
Yigit, G., D. Wieczorek, N. Bögershausen, F. Beleggia, C. Möller-Hartmann, J. Altmüller, H. Thiele, P. Nürnberg, and B. Wollnik, “A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation,” Am. J. Med. Genet. Part A, vol. 170, no. 3, pp. 728–733, 2016.
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.
Boyadjiev, B. Wollnik, O. Semler, S. K. Bohlander, J. Kim, and C. Netzer, “Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta,” Am. J. Hum. Genet., vol. 96, no. 3, pp. 432–439, 2015.
Burnouf, S., M. K. Gorsky, J. Dols, S. Grönke, and L. Partridge, “Aβ43 is neurotoxic and primes aggregation of Aβ40 in vivo.,” Acta Neuropathol., vol. 130, no. 1, pp. 35–47, 2015.
Bögershausen, N., I. C. Tsai, E. Pohl, P. O. S. Kiper, F. Beleggia, E. Ferda Percin, K. Keupp, A. Matchan, E. Milz, Y. Alanay, H. Kayserili, Y. Liu, S. Banka, A. Kranz, M. Zenker, D. Wieczorek, N. Elcioglu, P. Prontera, S. Lyonnet, T. Meitinger, A. Francis Stewart, D. Donnai, T. M. Strom, K. Boduroglu, G. Yigit, Y. Li, N. Katsanis, and B. Wollnik, “RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome,” J. Clin. Invest., vol. 125, no. 9, pp. 3585–3599, 2015.
Chong, A. C. N., M. C. Vogt, A. S. Hill, J. C. Brüning, and L. M. Zeltser, “Central insulin signaling modulates hypothalamus-pituitary-adrenal axis responsiveness,” Mol. Metab., vol. 4, no. 2, pp. 83–92, 2015.
Deckstein, J., J. van Appeldorn, M. Tsangarides, K. Yiannakou, R. Müller, M. Stumpf, S. K. Sukumaran, L. Eichinger, A. A. Noegel, and T. Y. Riyahi, “The Dictyostelium discoideum GPHR ortholog is an endoplasmic reticulum and golgi protein with roles during development,” Eukaryot. Cell, vol. 14, no. 1, pp. 41–54, 2015.
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