Lipid Droplets in the Pathogenesis of Hereditary Spastic Paraplegia

by Nimesha Tadepalle, Elena I. Rugarli, Elena I. Rugarli, Elena I. Rugarli
Published 2021-05-01

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

by Giuseppe Mancuso, Esther Barth, Pietro Crivello, Elena I Rugarli
Published 2012-01-01

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

by Carsten Merkwirth, Paola Martinelli, Anne Korwitz, Michela Morbin, Hella S Brönneke, Sabine D Jordan, Elena I Rugarli, Thomas Langer
Published 2012-01-01

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

by Shuaiyu Wang, Julie Jacquemyn, Sara Murru, Paola Martinelli, Esther Barth, Thomas Langer, Carien M Niessen, Elena I Rugarli
Published 2016-12-01

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

by Anton Iershov, Ivan Nemazanyy, Chantal Alkhoury, Muriel Girard, Esther Barth, Nicolas Cagnard, Alexandra Montagner, Dominique Chretien, Elena I. Rugarli, Herve Guillou, Mario Pende, Ganna Panasyuk
Published 2019-04-01

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

by Hans‐Georg Sprenger, Gulzar Wani, Annika Hesseling, Tim König, Maria Patron, Thomas MacVicar, Sofia Ahola, Timothy Wai, Esther Barth, Elena I Rugarli, Matteo Bergami, Thomas Langer
Published 2019-01-01

Spastin binds to lipid droplets and affects lipid metabolism.

by Chrisovalantis Papadopoulos, Genny Orso, Giuseppe Mancuso, Marija Herholz, Sentiljana Gumeni, Nimesha Tadepalle, Christian Jüngst, Anne Tzschichholz, Astrid Schauss, Stefan Höning, Aleksandra Trifunovic, Andrea Daga, Elena I Rugarli
Published 2015-04-01

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

by Tyler Mark Pierson, David Adams, Florian Bonn, Paola Martinelli, Praveen F. Cherukuri, Jamie K. Teer, Nancy F. Hansen, Pedro Cruz, James C. Mullikin, Robert W. Blakesley, Gretchen Golas, Justin Kwan, Anthony Sandler, Karin Fuentes Fajardo, Thomas Markello, Cynthia Tifft, Craig Blackstone, Elena I. Rugarli, Thomas Langer, William A. Gahl, Camilo Toro
Published 2013-02-01

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

by Tyler Mark Pierson, David Adams, Florian Bonn, Paola Martinelli, Praveen F. Cherukuri, Jamie K. Teer, Nancy F. Hansen, Pedro Cruz, James C. Mullikin, Robert W. Blakesley, Gretchen Golas, Justin Kwan, Anthony Sandler, Karin Fuentes Fajardo, Thomas Markello, Cynthia Tifft, Craig Blackstone, Elena I. Rugarli, Thomas Langer, William A. Gahl, Camilo Toro
Published 2013-02-01

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

by Tyler Mark Pierson, David Adams, Florian Bonn, Paola Martinelli, Praveen F Cherukuri, Jamie K Teer, Nancy F Hansen, Pedro Cruz, James C Mullikin For The Nisc Comparative Sequencing Program, Robert W Blakesley, Gretchen Golas, Justin Kwan, Anthony Sandler, Karin Fuentes Fajardo, Thomas Markello, Cynthia Tifft, Craig Blackstone, Elena I Rugarli, Thomas Langer, William A Gahl, Camilo Toro
Published 2011-10-01