Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 63


Astrocyte-specific deletion of the mitochondrial m-AAA protease reveals glial contribution to neurodegeneration.

Murru S, Hess S, Barth E, Almajan ER, Schatton D, Hermans S, Brodesser S, Langer T, Kloppenburg P, Rugarli EI.

Glia. 2019 Aug;67(8):1526-1541. doi: 10.1002/glia.23626. Epub 2019 Apr 16.


The class 3 PI3K coordinates autophagy and mitochondrial lipid catabolism by controlling nuclear receptor PPARα.

Iershov A, Nemazanyy I, Alkhoury C, Girard M, Barth E, Cagnard N, Montagner A, Chretien D, Rugarli EI, Guillou H, Pende M, Panasyuk G.

Nat Commun. 2019 Apr 5;10(1):1566. doi: 10.1038/s41467-019-09598-9.


A concert of RNA-binding proteins coordinates mitochondrial function.

Schatton D, Rugarli EI.

Crit Rev Biochem Mol Biol. 2018 Dec;53(6):652-666. doi: 10.1080/10409238.2018.1553927. Review.


Loss of the mitochondrial i-AAA protease YME1L leads to ocular dysfunction and spinal axonopathy.

Sprenger HG, Wani G, Hesseling A, König T, Patron M, MacVicar T, Ahola S, Wai T, Barth E, Rugarli EI, Bergami M, Langer T.

EMBO Mol Med. 2019 Jan;11(1). pii: e9288. doi: 10.15252/emmm.201809288.


CLUH regulates mitochondrial metabolism by controlling translation and decay of target mRNAs.

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.

J Cell Biol. 2017 Mar 6;216(3):675-693. doi: 10.1083/jcb.201607019. Epub 2017 Feb 10.


The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying.

Wang S, Jacquemyn J, Murru S, Martinelli P, Barth E, Langer T, Niessen CM, Rugarli EI.

PLoS Genet. 2016 Dec 2;12(12):e1006463. doi: 10.1371/journal.pgen.1006463. eCollection 2016 Dec.


The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria.

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.

Mol Cell. 2016 Oct 6;64(1):148-162. doi: 10.1016/j.molcel.2016.08.020. Epub 2016 Sep 15.


Loss of OMA1 delays neurodegeneration by preventing stress-induced OPA1 processing in mitochondria.

Korwitz A, Merkwirth C, Richter-Dennerlein R, Tröder SE, Sprenger HG, Quirós PM, López-Otín C, Rugarli EI, Langer T.

J Cell Biol. 2016 Jan 18;212(2):157-66. doi: 10.1083/jcb.201507022.


Spastin binds to lipid droplets and affects lipid metabolism.

Papadopoulos C, Orso G, Mancuso G, Herholz M, Gumeni S, Tadepalle N, Jüngst C, Tzschichholz A, Schauss A, Höning S, Trifunovic A, Daga A, Rugarli EI.

PLoS Genet. 2015 Apr 13;11(4):e1005149. doi: 10.1371/journal.pgen.1005149. eCollection 2015 Apr.


CLUH regulates mitochondrial biogenesis by binding mRNAs of nuclear-encoded mitochondrial proteins.

Gao J, Schatton D, Martinelli P, Hansen H, Pla-Martin D, Barth E, Becker C, Altmueller J, Frommolt P, Sardiello M, Rugarli EI.

J Cell Biol. 2014 Oct 27;207(2):213-23. doi: 10.1083/jcb.201403129.


BID-dependent release of mitochondrial SMAC dampens XIAP-mediated immunity against Shigella.

Andree M, Seeger JM, Schüll S, Coutelle O, Wagner-Stippich D, Wiegmann K, Wunderlich CM, Brinkmann K, Broxtermann P, Witt A, Fritsch M, Martinelli P, Bielig H, Lamkemeyer T, Rugarli EI, Kaufmann T, Sterner-Kock A, Wunderlich FT, Villunger A, Martins LM, Krönke M, Kufer TA, Utermöhlen O, Kashkar H.

EMBO J. 2014 Oct 1;33(19):2171-87. doi: 10.15252/embj.201387244. Epub 2014 Jul 23.


DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling.

Richter-Dennerlein R, Korwitz A, Haag M, Tatsuta T, Dargazanli S, Baker M, Decker T, Lamkemeyer T, Rugarli EI, Langer T.

Cell Metab. 2014 Jul 1;20(1):158-71. doi: 10.1016/j.cmet.2014.04.016. Epub 2014 May 22.


Loss of the m-AAA protease subunit AFG₃L₂ causes mitochondrial transport defects and tau hyperphosphorylation.

Kondadi AK, Wang S, Montagner S, Kladt N, Korwitz A, Martinelli P, Herholz D, Baker MJ, Schauss AC, Langer T, Rugarli EI.

EMBO J. 2014 May 2;33(9):1011-26. doi: 10.1002/embj.201387009. Epub 2014 Mar 28.


Tissue-specific loss of DARS2 activates stress responses independently of respiratory chain deficiency in the heart.

Dogan SA, Pujol C, Maiti P, Kukat A, Wang S, Hermans S, Senft K, Wibom R, Rugarli EI, Trifunovic A.

Cell Metab. 2014 Mar 4;19(3):458-69. doi: 10.1016/j.cmet.2014.02.004.


Loss of prohibitin membrane scaffolds impairs mitochondrial architecture and leads to tau hyperphosphorylation and neurodegeneration.

Merkwirth C, Martinelli P, Korwitz A, Morbin M, Brönneke HS, Jordan SD, Rugarli EI, Langer T.

PLoS Genet. 2012;8(11):e1003021. doi: 10.1371/journal.pgen.1003021. Epub 2012 Nov 8.


AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.

Almajan ER, Richter R, Paeger L, Martinelli P, Barth E, Decker T, Larsson NG, Kloppenburg P, Langer T, Rugarli EI.

J Clin Invest. 2012 Nov;122(11):4048-58. doi: 10.1172/JCI64604. Epub 2012 Oct 8.


Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum.

Mancuso G, Barth E, Crivello P, Rugarli EI.

PLoS One. 2012;7(5):e36337. doi: 10.1371/journal.pone.0036337. Epub 2012 May 1.


Mitochondrial quality control: a matter of life and death for neurons.

Rugarli EI, Langer T.

EMBO J. 2012 Mar 21;31(6):1336-49. doi: 10.1038/emboj.2012.38. Epub 2012 Feb 21. Review.


Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C.

PLoS Genet. 2011 Oct;7(10):e1002325. doi: 10.1371/journal.pgen.1002325. Epub 2011 Oct 13.


Senataxin modulates neurite growth through fibroblast growth factor 8 signalling.

Vantaggiato C, Bondioni S, Airoldi G, Bozzato A, Borsani G, Rugarli EI, Bresolin N, Clementi E, Bassi MT.

Brain. 2011 Jun;134(Pt 6):1808-28. doi: 10.1093/brain/awr084. Epub 2011 May 15.


Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1.

Ehses S, Raschke I, Mancuso G, Bernacchia A, Geimer S, Tondera D, Martinou JC, Westermann B, Rugarli EI, Langer T.

J Cell Biol. 2009 Dec 28;187(7):1023-36. doi: 10.1083/jcb.200906084.


Emerging roles of mitochondrial proteases in neurodegeneration.

Martinelli P, Rugarli EI.

Biochim Biophys Acta. 2010 Jan;1797(1):1-10. doi: 10.1016/j.bbabio.2009.07.013. Epub 2009 Aug 5. Review.


Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration.

Martinelli P, La Mattina V, Bernacchia A, Magnoni R, Cerri F, Cox G, Quattrini A, Casari G, Rugarli EI.

Hum Mol Genet. 2009 Jun 1;18(11):2001-13. doi: 10.1093/hmg/ddp124. Epub 2009 Mar 16.


Pleiotropic effects of spastin on neurite growth depending on expression levels.

Riano E, Martignoni M, Mancuso G, Cartelli D, Crippa F, Toldo I, Siciliano G, Di Bella D, Taroni F, Bassi MT, Cappelletti G, Rugarli EI.

J Neurochem. 2009 Mar;108(5):1277-88. doi: 10.1111/j.1471-4159.2009.05875.x. Epub 2009 Jan 29.


A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform.

Mancuso G, Rugarli EI.

BMC Biol. 2008 Jul 9;6:31. doi: 10.1186/1741-7007-6-31.


The role of ZFYVE27/protrudin in hereditary spastic paraplegia.

Martignoni M, Riano E, Rugarli EI.

Am J Hum Genet. 2008 Jul;83(1):127-8; author reply 128-30. doi: 10.1016/j.ajhg.2008.05.014. No abstract available.


OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria.

Duvezin-Caubet S, Koppen M, Wagener J, Zick M, Israel L, Bernacchia A, Jagasia R, Rugarli EI, Imhof A, Neupert W, Langer T, Reichert AS.

Mol Biol Cell. 2007 Sep;18(9):3582-90. Epub 2007 Jul 5.


Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia.

Koppen M, Metodiev MD, Casari G, Rugarli EI, Langer T.

Mol Cell Biol. 2007 Jan;27(2):758-67. Epub 2006 Nov 13.


Functional dissection of the Drosophila Kallmann's syndrome protein DmKal-1.

Andrenacci D, Grimaldi MR, Panetta V, Riano E, Rugarli EI, Graziani F.

BMC Genet. 2006 Oct 11;7:47.


Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia.

Rugarli EI, Langer T.

Trends Mol Med. 2006 Jun;12(6):262-9. Epub 2006 May 2. Review.


Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia.

Pirozzi M, Quattrini A, Andolfi G, Dina G, Malaguti MC, Auricchio A, Rugarli EI.

J Clin Invest. 2006 Jan;116(1):202-8. Epub 2005 Dec 15. Erratum in: J Clin Invest. 2014 Feb;124(2):871.


The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria.

Nolden M, Ehses S, Koppen M, Bernacchia A, Rugarli EI, Langer T.

Cell. 2005 Oct 21;123(2):277-89.


Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus.

Claudiani P, Riano E, Errico A, Andolfi G, Rugarli EI.

Exp Cell Res. 2005 Oct 1;309(2):358-69.


UMODL1/Olfactorin is an extracellular membrane-bound molecule with a restricted spatial expression in olfactory and vomeronasal neurons.

Di Schiavi E, Riano E, Heye B, Bazzicalupo P, Rugarli EI.

Eur J Neurosci. 2005 Jun;21(12):3291-300.


The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.

Cariboni A, Pimpinelli F, Colamarino S, Zaninetti R, Piccolella M, Rumio C, Piva F, Rugarli EI, Maggi R.

Hum Mol Genet. 2004 Nov 15;13(22):2781-91. Epub 2004 Oct 7.


Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon.

Errico A, Claudiani P, D'Addio M, Rugarli EI.

Hum Mol Genet. 2004 Sep 15;13(18):2121-32. Epub 2004 Jul 21.


Hereditary spastic paraplegia: clinical genetic study of 15 families.

Orlacchio A, Kawarai T, Totaro A, Errico A, St George-Hyslop PH, Rugarli EI, Bernardi G.

Arch Neurol. 2004 Jun;61(6):849-55.


Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport.

Ferreirinha F, Quattrini A, Pirozzi M, Valsecchi V, Dina G, Broccoli V, Auricchio A, Piemonte F, Tozzi G, Gaeta L, Casari G, Ballabio A, Rugarli EI.

J Clin Invest. 2004 Jan;113(2):231-42.


The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching.

Rugarli EI, Di Schiavi E, Hilliard MA, Arbucci S, Ghezzi C, Facciolli A, Coppola G, Ballabio A, Bazzicalupo P.

Development. 2002 Mar;129(5):1283-94.


Kallmann syndrome and the link between olfactory and reproductive development.

Rugarli EI.

Am J Hum Genet. 1999 Oct;65(4):943-8. Review. No abstract available.


Mapping of the murine tbl1 gene reveals a new rearrangement between mouse and human X Chromosomes.

Disteche CM, Dinulos MB, Bassi MT, Elliott RW, Rugarli EI.

Mamm Genome. 1998 Dec;9(12):1062-4. No abstract available.


The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region.

Dal Zotto L, Quaderi NA, Elliott R, Lingerfelter PA, Carrel L, Valsecchi V, Montini E, Yen CH, Chapman V, Kalcheva I, Arrigo G, Zuffardi O, Thomas S, Willard HF, Ballabio A, Disteche CM, Rugarli EI.

Hum Mol Genet. 1998 Mar;7(3):489-99.


Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.

Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A.

Nat Genet. 1997 Nov;17(3):285-91.


Evidence of evolutionary up-regulation of the single active X chromosome in mammals based on Clc4 expression levels in Mus spretus and Mus musculus.

Adler DA, Rugarli EI, Lingenfelter PA, Tsuchiya K, Poslinski D, Liggitt HD, Chapman VM, Elliott RW, Ballabio A, Disteche CM.

Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9244-8.


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.

Montini E, Rugarli EI, Van de Vosse E, Andolfi G, Mariani M, Puca AA, Consalez GG, den Dunnen JT, Ballabio A, Franco B.

Hum Mol Genet. 1997 Jul;6(7):1137-45.


The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component.

Rugarli EI, Ghezzi C, Valsecchi V, Ballabio A.

Hum Mol Genet. 1996 Aug;5(8):1109-15.


A new region of conservation is defined between human and mouse X chromosomes.

Dinulos MB, Bassi MT, Rugarli EI, Chapman V, Ballabio A, Disteche CM.

Genomics. 1996 Jul 1;35(1):244-7.


Reelin: a novel extracellular matrix protein involved in brain lamination.

Rugarli EI, Ballabio A.

Bioessays. 1995 Oct;17(10):832-4. Review.


Supplemental Content

Loading ...
Support Center