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

por Mancuso, Giuseppe, Rugarli, Elena I
Publicado 2008

Lipid Droplets in the Pathogenesis of Hereditary Spastic Paraplegia

por Tadepalle, Nimesha, Rugarli, Elena I.
Publicado 2021

Alternative Splicing of Spg7, a Gene Involved in Hereditary Spastic Paraplegia, Encodes a Variant of Paraplegin Targeted to the Endoplasmic Reticulum

por Mancuso, Giuseppe, Barth, Esther, Crivello, Pietro, Rugarli, Elena I.
Publicado 2012

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

por Andrenacci, Davide, Grimaldi, Maria R, Panetta, Vittorio, Riano, Elena, Rugarli, Elena I, Graziani, Franco
Publicado 2006

Loss of Prohibitin Membrane Scaffolds Impairs Mitochondrial Architecture and Leads to Tau Hyperphosphorylation and Neurodegeneration

por Merkwirth, Carsten, Martinelli, Paola, Korwitz, Anne, Morbin, Michela, Brönneke, Hella S., Jordan, Sabine D., Rugarli, Elena I., Langer, Thomas
Publicado 2012

The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying

por Wang, Shuaiyu, Jacquemyn, Julie, Murru, Sara, Martinelli, Paola, Barth, Esther, Langer, Thomas, Niessen, Carien M., Rugarli, Elena I.
Publicado 2016

CLUH granules coordinate translation of mitochondrial proteins with mTORC1 signaling and mitophagy

por Pla‐Martín, David, Schatton, Désirée, Wiederstein, Janica L, Marx, Marie‐Charlotte, Khiati, Salim, Krüger, Marcus, Rugarli, Elena I
Publicado 2020

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

por Ehses, Sarah, Raschke, Ines, Mancuso, Giuseppe, Bernacchia, Andrea, Geimer, Stefan, Tondera, Daniel, Martinou, Jean-Claude, Westermann, Benedikt, Rugarli, Elena I., Langer, Thomas
Publicado 2009

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

por Murru, Sara, Hess, Simon, Barth, Esther, Almajan, Eva R., Schatton, Désirée, Hermans, Steffen, Brodesser, Susanne, Langer, Thomas, Kloppenburg, Peter, Rugarli, Elena I.
Publicado 2019

Microtubule-dependent and independent roles of spastin in lipid droplet dispersion and biogenesis

por Tadepalle, Nimesha, Robers, Lennart, Veronese, Matteo, Zentis, Peter, Babatz, Felix, Brodesser, Susanne, Gruszczyk, Anja V, Schauss, Astrid, Höning, Stefan, Rugarli, Elena I
Publicado 2020

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

por Gao, Jie, Schatton, Désirée, Martinelli, Paola, Hansen, Henriette, Pla-Martin, David, Barth, Esther, Becker, Christian, Altmueller, Janine, Frommolt, Peter, Sardiello, Marco, Rugarli, Elena I.
Publicado 2014

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

por Korwitz, Anne, Merkwirth, Carsten, Richter-Dennerlein, Ricarda, Tröder, Simon E., Sprenger, Hans-Georg, Quirós, Pedro M., López-Otín, Carlos, Rugarli, Elena I., Langer, Thomas
Publicado 2016

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

por Iershov, Anton, Nemazanyy, Ivan, Alkhoury, Chantal, Girard, Muriel, Barth, Esther, Cagnard, Nicolas, Montagner, Alexandra, Chretien, Dominique, Rugarli, Elena I., Guillou, Herve, Pende, Mario, Panasyuk, Ganna
Publicado 2019

Spastin Binds to Lipid Droplets and Affects Lipid Metabolism

por Papadopoulos, Chrisovalantis, Orso, Genny, Mancuso, Giuseppe, Herholz, Marija, Gumeni, Sentiljana, Tadepalle, Nimesha, Jüngst, Christian, Tzschichholz, Anne, Schauss, Astrid, Höning, Stefan, Trifunovic, Aleksandra, Daga, Andrea, Rugarli, Elena I.
Publicado 2015

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

por Sprenger, Hans‐Georg, Wani, Gulzar, Hesseling, Annika, König, Tim, Patron, Maria, MacVicar, Thomas, Ahola, Sofia, Wai, Timothy, Barth, Esther, Rugarli, Elena I, Bergami, Matteo, Langer, Thomas
Publicado 2018

CLUH controls astrin-1 expression to couple mitochondrial metabolism to cell cycle progression

por Schatton, Désirée, Di Pietro, Giada, Szczepanowska, Karolina, Veronese, Matteo, Marx, Marie-Charlotte, Braunöhler, Kristina, Barth, Esther, Müller, Stefan, Giavalisco, Patrick, Langer, Thomas, Trifunovic, Aleksandra, Rugarli, Elena I
Publicado 2022

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

por Schatton, Désirée, Pla-Martin, David, Marx, Marie-Charlotte, Hansen, Henriette, Mourier, Arnaud, Nemazanyy, Ivan, Pessia, Alberto, Zentis, Peter, Corona, Teresa, Kondylis, Vangelis, Barth, Esther, Schauss, Astrid C., Velagapudi, Vidya, Rugarli, Elena I.
Publicado 2017

Regulation of mitochondrial proteostasis by the proton gradient

por Patron, Maria, Tarasenko, Daryna, Nolte, Hendrik, Kroczek, Lara, Ghosh, Mausumi, Ohba, Yohsuke, Lasarzewski, Yvonne, Ahmadi, Zeinab Alsadat, Cabrera‐Orefice, Alfredo, Eyiama, Akinori, Kellermann, Tim, Rugarli, Elena I, Brandt, Ulrich, Meinecke, Michael, Langer, Thomas
Publicado 2022

Correction: Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

por Pierson, Tyler Mark, Adams, David, Bonn, Florian, Martinelli, Paola, Cherukuri, Praveen F., Teer, Jamie K., Hansen, Nancy F., Cruz, Pedro, Mullikin, James C., Blakesley, Robert W., Golas, Gretchen, Kwan, Justin, Sandler, Anthony, Fuentes Fajardo, Karin, Markello, Thomas, Tifft, Cynthia, Blackstone, Craig, Rugarli, Elena I., Langer, Thomas, Gahl, William A., Toro, Camilo
Publicado 2013

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

por Pierson, Tyler Mark, Adams, David, Bonn, Florian, Martinelli, Paola, Cherukuri, Praveen F., Teer, Jamie K., Hansen, Nancy F., Cruz, Pedro, Mullikin for the NISC Comparative Sequencing Program, James C., Blakesley, Robert W., Golas, Gretchen, Kwan, Justin, Sandler, Anthony, Fuentes Fajardo, Karin, Markello, Thomas, Tifft, Cynthia, Blackstone, Craig, Rugarli, Elena I., Langer, Thomas, Gahl, William A., Toro, Camilo
Publicado 2011