CECAD Microsite

Publications

  • Désirée Schatton & Elena I. Rugarli (2018) A concert of RNA-binding proteins coordinates mitochondrial function, Critical Reviews in Biochemistry and Molecular Biology, 53:6, 652-666, DOI: 10.1080/10409238.2018.1553927
  • Schatton D, Rugarli EI. (2017) Post-transcriptional regulation of mitochondrial function. Curr Opin Physiol. 3: 6-15. doi: 10.1016/j.cophys.2017.12.008
  • Schatton D, Pla-Martin D, Marx MC, Hansen H, Mourier A, Nemazanyy I, Pessia A, Zentis P, Corona T, Kondylis V, Barth E, Schauss AC, Velagapudi V, Rugarli EI. (2017) CLUH regulates mitochondrial metabolism by controlling translation and decay of target mRNAs. J Cell Biol. 216: 675-693. doi: 10.1083/jcb.201607019.
  • Wang S, Jacquemyn J, Murru S, Martinelli P, Barth E, Langer T, Niessen CM, Rugarli EI. (2016) The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying. PLoS Genet 12(12): e1006463. doi:10.1371/journal.pgen.1006463              

  • König T, Tröder SE, Bakka K, Korwitz A, Richter-Dennerlein R, Lampe PA, Patron M, Mühlmeister M, Guerrero-Castillo S, Brandt U, Decker T, Lauria I, Paggio A, Rizzuto R, Rugarli EI, De Stefani D, Langer T. (2016) The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria. Mol Cell. 64 :148-162. doi: 10.1016/j.molcel.2016.08.020

  • Korwitz A, Merkwirth C, Richter-Dennerlein R, Tröder SE, Sprenger H-G, Quirós PM, López-Otín C, Rugarli EI, and Langer T. (2016) Loss of OMA1 delays neurodegeneration by preventing stress-induced OPA1 processing in mitochondria. J Cell Biol 212:157-166. doi:10.1083/jcb.201507022

  • Rugarli E., Trifunovic A. (2015) Is mitochondrial free radical theory of aging getting old? Biochim Biophys Acta. 1847:1345-6. doi: 10.1016/j.bbabio.2015.08.004.

  • Papadopoulos C, Orso G, Mancuso G, Herholz M, Gumeni S, Tadepalle N, Jungst C, Tzschichholz A, Schauss A, Honing S, Trifunovic A, Daga A, and Rugarli E.I. (2015). Spastin binds to lipid droplets and affects lipid metabolism. PLoS Genet 11, e1005149.

  • Gao J., Schatton D., Martinelli P., Hansen H., Pla-Martin D., Barth E., Becker C., Altmueller J., Frommolt P., Sardiello M., Rugarli, E.I. (2014) CLUH regulates mitochondrial biogenesis by binding mRNAs of nuclear-encoded mitochondrial proteins. J Cell Biol, 207(2):213-23. doi: 10.1083/jcb.201403129.

  • Andree, M., Seeger, J.M., Schull, S., Coutelle, O., Wagner-Stippich, D., Wiegmann, K., Wunderlich, C.M., Brinkmann, K., Broxtermann, P., Witt, A., Fritsch, M., Martinelli, P., Bielig, H., Lamkemeyer, T., Rugarli, E.I., Kaufmann, T., Sterner-Kock, A., Wunderlich, F.T., Villunger, A., Martins, L.M., Kronke, M., Kufer, T.A., Utermohlen, O. and Kashkar, H. (2014) BID-dependent release of mitochondrial SMAC dampens XIAP-mediated immunity against Shigella. Embo J. pii: e201387244
  • Richter-Dennerlein, R., Korwitz, A., Haag, M., Tatsuta, T., Dargazanli, S., Baker, M., Decker, T., Lamkemeyer, T., Rugarli, E.I. and Langer, T. (2014) DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling. Cell Metab, 20, 158-171.
  • Smets, K., Deconinck, T., Baets, J., Sieben, A., Martin, J.J., Smouts, I., Wang, S., Taroni, F., Di Bella, D., Van Hecke, W., Parizel, P.M., Jadoul, C., De Potter, R., Couvreur, F., Rugarli, E. and De Jonghe, P. (2014) Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28. Neurology, 82, 2092-2100.
  • Kondadi, A.K., Wang, S., Montagner, S., Kladt, N., Korwitz, A., Martinelli, P., Herholz, D., Baker, M.J., Schauss, A.C., Langer, T. and Rugarli, E.I. (2014) Loss of the m-AAA protease subunit AFG3L2 causes mitochondrial transport defects and tau hyperphosphorylation. Embo J, 33, 1011-1026.
  • Anand, R., Wai, T., Baker, M.J., Kladt, N., Schauss, A.C., Rugarli, E. and Langer, T. (2014) The i-AAA protease YME1L and OMA1 cleave OPA1 to balance mitochondrial fusion and fission. J Cell Biol, 204, 919-929.
  • Dogan, S.A., Pujol, C., Maiti, P., Kukat, A., Wang, S., Hermans, S., Senft, K., Wibom, R., Rugarli, E.I. and Trifunovic, A. (2014) Tissue-specific loss of DARS2 activates stress responses independently of respiratory chain deficiency in the heart. Cell Metab, 19, 458-469.
  • Merkwirth, C., Martinelli, P., Korwitz, A., Morbin, M., Bronneke, H.S., Jordan, S.D., Rugarli, E.I. and Langer, T. (2012) Loss of prohibitin membrane scaffolds impairs mitochondrial architecture and leads to tau hyperphosphorylation and neurodegeneration. PLoS Genet, 8, e1003021.
  • Almajan, E.R., Richter, R., Paeger, L., Martinelli, P., Barth, E., Decker, T., Larsson, N.G., Kloppenburg, P., Langer, T. and Rugarli, E.I. (2012) AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival. J Clin Invest, 122, 4048-4058.
  • Mancuso, G., Barth, E., Crivello, P. and Rugarli, E.I. (2012) Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum. PLoS One, 7, e36337.
  • Rugarli, E.I. and Langer, T. (2012) Mitochondrial quality control: a matter of life and death for neurons. Embo J, 31, 1336-1349.
  • Pierson, T.M., Adams, D., Bonn, F., Martinelli, P., Cherukuri, P.F., Teer, J.K., Hansen, N.F., Cruz, P., Mullikin For The Nisc Comparative Sequencing Program, J.C., Blakesley, R.W., Golas, G., Kwan, J., Sandler, A., Fuentes Fajardo, K., Markello, T., Tifft, C., Blackstone, C., Rugarli, E.I., Langer, T., Gahl, W.A. and Toro, C. (2011) Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet, 7, e1002325.
  • Vantaggiato, C., Bondioni, S., Airoldi, G., Bozzato, A., Borsani, G., Rugarli, E.I., Bresolin, N., Clementi, E. and Bassi, M.T. (2011) Senataxin modulates neurite growth through fibroblast growth factor 8 signalling. Brain, 134, 1808-1828.
  • Ehses, S., Raschke, I., Mancuso, G., Bernacchia, A., Geimer, S., Tondera, D., Martinou, J.C., Westermann, B., Rugarli, E.I. and Langer, T. (2009) Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1. J Cell Biol, 187, 1023-1036.
  • Martinelli, P. and Rugarli, E.I. (2010) Emerging roles of mitochondrial proteases in neurodegeneration. Biochim Biophys Acta, 1797, 1-10.
  • Martinelli, P., La Mattina, V., Bernacchia, A., Magnoni, R., Cerri, F., Cox, G., Quattrini, A., Casari, G. and Rugarli, E.I. (2009) Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration. Hum Mol Genet, 18, 2001-2013.
  • Riano, E., Martignoni, M., Mancuso, G., Cartelli, D., Crippa, F., Toldo, I., Siciliano, G., Di Bella, D., Taroni, F., Bassi, M.T., Cappelletti, G. and Rugarli, E.I. (2009) Pleiotropic effects of spastin on neurite growth depending on expression levels. J Neurochem, 108, 1277-1288.
  • Mancuso, G. and Rugarli, E.I. (2008) A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform. BMC Biol, 6, 31.
  • Martignoni, M., Riano, E. and Rugarli, E.I. (2008) The role of ZFYVE27/protrudin in hereditary spastic paraplegia. Am J Hum Genet, 83, 127-128; author reply 128-130.
  • Duvezin-Caubet, S., Koppen, M., Wagener, J., Zick, M., Israel, L., Bernacchia, A., Jagasia, R., Rugarli, E.I., Imhof, A., Neupert, W., Langer, T. and Reichert, A.S. (2007) OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria. Mol Biol Cell, 18, 3582-3590.
  • Panza, E., Gimelli, G., Passalacqua, M., Cohen, A., Gimelli, S., Giglio, S., Ghezzi, C., Sparatore, B., Heye, B., Zuffardi, O., Rugarli, E., Meitinger, T., Romeo, G., Ravazzolo, R. and Seri, M. (2007) The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies. Int J Mol Med, 19, 429-435.
  • Koppen, M., Metodiev, M.D., Casari, G., Rugarli, E.I. and Langer, T. (2007) Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia. Mol Cell Biol, 27, 758-767.
  • Andrenacci, D., Grimaldi, M.R., Panetta, V., Riano, E., Rugarli, E.I. and Graziani, F. (2006) Functional dissection of the Drosophila Kallmann's syndrome protein DmKal-1. BMC Genet, 7, 47.
  • Rugarli, E.I. and Langer, T. (2006) Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia. Trends Mol Med, 12, 262-269.
  • Pirozzi, M., Quattrini, A., Andolfi, G., Dina, G., Malaguti, M.C., Auricchio, A. and Rugarli, E.I. (2006) Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia. J Clin Invest, 116, 202-208.
  • Nolden, M., Ehses, S., Koppen, M., Bernacchia, A., Rugarli, E.I. and Langer, T. (2005) The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell, 123, 277-289.
  • Maggi, R., Cariboni, A., Zaninetti, R., Samara, A., Stossi, F., Pimpinelli, F., Giacobini, P., Consalez, G.G., Rugarli, E.I. and Piva, F. (2005) Factors involved in the migration of neuroendocrine hypothalamic neurons. Arch Ital Biol, 143, 171-178.
  • Claudiani, P., Riano, E., Errico, A., Andolfi, G. and Rugarli, E.I. (2005) Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus. Exp Cell Res, 309, 358-369.
  • Di Schiavi, E., Riano, E., Heye, B., Bazzicalupo, P. and Rugarli, E.I. (2005) UMODL1/Olfactorin is an extracellular membrane-bound molecule with a restricted spatial expression in olfactory and vomeronasal neurons. Eur J Neurosci, 21, 3291-3300.
  • Andrenacci, D., Le Bras, S., Rosaria Grimaldi, M., Rugarli, E. and Graziani, F. (2004) Embryonic expression pattern of the Drosophila Kallmann syndrome gene kal-1. Gene Expr Patterns, 5, 67-73.
  • Cariboni, A., Pimpinelli, F., Colamarino, S., Zaninetti, R., Piccolella, M., Rumio, C., Piva, F., Rugarli, E.I. and Maggi, R. (2004) The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons. Hum Mol Genet, 13, 2781-2791.
  • Errico, A., Claudiani, P., D'Addio, M. and Rugarli, E.I. (2004) Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon. Hum Mol Genet, 13, 2121-2132.
  • Orlacchio, A., Kawarai, T., Totaro, A., Errico, A., St George-Hyslop, P.H., Rugarli, E.I. and Bernardi, G. (2004) Hereditary spastic paraplegia: clinical genetic study of 15 families. Arch Neurol, 61, 849-855.
  • Ferreirinha, F., Quattrini, A., Pirozzi, M., Valsecchi, V., Dina, G., Broccoli, V., Auricchio, A., Piemonte, F., Tozzi, G., Gaeta, L., Casari, G., Ballabio, A. and Rugarli, E.I. (2004) Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest, 113, 231-242.
  • Rugarli, E.I., Di Schiavi, E., Hilliard, M.A., Arbucci, S., Ghezzi, C., Facciolli, A., Coppola, G., Ballabio, A. and Bazzicalupo, P. (2002) The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching. Development, 129, 1283-1294.
  • Errico, A., Ballabio, A. and Rugarli, E.I. (2002) Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet, 11, 153-163.
  • Casari, G. and Rugarli, E. (2001) Molecular basis of inherited spastic paraplegias. Curr Opin Genet Dev, 11, 336-342.
  • Rugarli, E.I. (1999) Kallmann syndrome and the link between olfactory and reproductive development. Am J Hum Genet, 65, 943-948.
  • Disteche, C.M., Dinulos, M.B., Bassi, M.T., Elliott, R.W. and Rugarli, E.I. (1998) Mapping of the murine tbl1 gene reveals a new rearrangement between mouse and human X Chromosomes. Mamm Genome, 9, 1062-1064.
  • Dal Zotto, L., Quaderi, N.A., Elliott, R., Lingerfelter, P.A., Carrel, L., Valsecchi, V., Montini, E., Yen, C.H., Chapman, V., Kalcheva, I., Arrigo, G., Zuffardi, O., Thomas, S., Willard, H.F., Ballabio, A., Disteche, C.M. and Rugarli, E.I. (1998) The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. Hum Mol Genet, 7, 489-499.
  • Valsecchi, C., Ghezzi, C., Ballabio, A. and Rugarli, E.I. (1997) JAGGED2: a putative Notch ligand expressed in the apical ectodermal ridge and in sites of epithelial-mesenchymal interactions. Mech Dev, 69, 203-207.
  • Quaderi, N.A., Schweiger, S., Gaudenz, K., Franco, B., Rugarli, E.I., Berger, W., Feldman, G.J., Volta, M., Andolfi, G., Gilgenkrantz, S., Marion, R.W., Hennekam, R.C., Opitz, J.M., Muenke, M., Ropers, H.H. and Ballabio, A. (1997) Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet, 17, 285-291.
  • Adler, D.A., Rugarli, E.I., Lingenfelter, P.A., Tsuchiya, K., Poslinski, D., Liggitt, H.D., Chapman, V.M., Elliott, R.W., Ballabio, A. and Disteche, C.M. (1997) Evidence of evolutionary up-regulation of the single active X chromosome in mammals based on Clc4 expression levels in Mus spretus and Mus musculus. Proc Natl Acad Sci U S A, 94, 9244-9248.
  • Montini, E., Rugarli, E.I., Van de Vosse, E., Andolfi, G., Mariani, M., Puca, A.A., Consalez, G.G., den Dunnen, J.T., Ballabio, A. and Franco, B. (1997) A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin. Hum Mol Genet, 6, 1137-1145.
  • Rugarli, E.I., Ghezzi, C., Valsecchi, V. and Ballabio, A. (1996) The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component. Hum Mol Genet, 5, 1109-1115.
  • Dinulos, M.B., Bassi, M.T., Rugarli, E.I., Chapman, V., Ballabio, A. and Disteche, C.M. (1996) A new region of conservation is defined between human and mouse X chromosomes. Genomics, 35, 244-247.
  • Rugarli, E.I. and Ballabio, A. (1995) Reelin: a novel extracellular matrix protein involved in brain lamination. Bioessays, 17, 832-834.
  • Rugarli, E.I., Adler, D.A., Borsani, G., Tsuchiya, K., Franco, B., Hauge, X., Disteche, C., Chapman, V. and Ballabio, A. (1995) Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice. Nat Genet, 10, 466-471.
  • Borsani, G., Rugarli, E.I., Taglialatela, M., Wong, C. and Ballabio, A. (1995) Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein. Genomics, 27, 131-141.
  • Schiaffino, M.V., Bassi, M.T., Rugarli, E.I., Renieri, A., Galli, L. and Ballabio, A. (1995) Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. Hum Mol Genet, 4, 373-382.
  • Lutz, B., Kuratani, S., Rugarli, E.I., Wawersik, S., Wong, C., Bieber, F.R., Ballabio, A. and Eichele, G. (1994) Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo. Hum Mol Genet, 3, 1717-1723.
  • van Slegtenhorst, M.A., Bassi, M.T., Borsani, G., Wapenaar, M.C., Ferrero, G.B., de Conciliis, L., Rugarli, E.I., Grillo, A., Franco, B., Zoghbi, H.Y. and Ballabio, A. (1994) A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Hum Mol Genet, 3, 547-552.
  • Rugarli, E.I. and Ballabio, A. (1993) Kallmann syndrome. From genetics to neurobiology. Jama, 270, 2713-2716.
  • Lutz, B., Rugarli, E.I., Eichele, G. and Ballabio, A. (1993) X-linked Kallmann syndrome. A neuronal targeting defect in the olfactory system? FEBS Lett, 325, 128-134.
  • Rugarli, E.I., Lutz, B., Kuratani, S.C., Wawersik, S., Borsani, G., Ballabio, A. and Eichele, G. (1993) Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting. Nat Genet, 4, 19-26.
  • Silani, V., Pizzuti, A., Falini, A., Borsani, G., Rugarli, E.I., Melo, C.A., Sidoli, A., Villani, F., Baralle, F. and Scarlato, G. (1991) Beta-nerve growth factor (beta-NGF) mRNA expression in the parkinsonian adrenal gland. Exp Neurol, 113, 166-170.
  • Falini, A., Silani, V., Pizzuti, A., Rugarli, E.I., Mariani, D., Bassani, R., Vegeto, A., Baralle, F.E. and Scarlato, G. (1991) Maintained cellular function of adrenal medullary cells in parkinsonian dysautonomia. Funct Neurol, 6, 259-261.
  • Borsani, G., Pizzuti, A., Rugarli, E.I., Falini, A., Scarlato, G., Baralle, F.E. and Silani, V. (1991) Human fetal brain beta-nerve growth factor cDNA: molecular cloning of 5' and 3' untranslated regions. Neurosci Lett, 127, 117-120.
  • Borsani, G., Pizzuti, A., Rugarli, E.I., Falini, A., Silani, V., Sidoli, A., Scarlato, G. and Baralle, F.E. (1990) cDNA sequence of human beta-NGF. Nucleic Acids Res, 18, 4020.
  • Pizzuti, A., Borsani, G., Falini, A., Rugarli, E.I., Sidoli, A., Baralle, F.E., Scarlato, G. and Silani, V. (1990) Detection of beta-nerve growth factor mRNA in the human fetal brain. Brain Res, 518, 337-341.