Search Results - "Elisa Tinelli"

Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease by Minnis, Christopher J., Townsend, StJohn, Petschnigg, Julia, Tinelli, Elisa, Bähler, Jürg, Russell, Claire, Mole, Sara E.

“…Juvenile CLN3 disease is a recessively inherited paediatric neurodegenerative disorder, with most patients homozygous for a 1-kb intragenic deletion in CLN3 …”
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De novo fatty acid synthesis by Schwann cells is essential for peripheral nervous system myelination by Montani, Laura, Pereira, Jorge A, Norrmén, Camilla, Pohl, Hartmut B F, Tinelli, Elisa, Trötzmüller, Martin, Figlia, Gianluca, Dimas, Penelope, von Niederhäusern, Belinda, Schwager, Rachel, Jessberger, Sebastian, Semenkovich, Clay F, Köfeler, Harald C, Suter, Ueli

“…Myelination calls for a remarkable surge in cell metabolism to facilitate lipid and membrane production. Endogenous fatty acid (FA) synthesis represents a…”
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Ablation of the UPR-Mediator CHOP Restores Motor Function and Reduces Demyelination in Charcot-Marie-Tooth 1B Mice by Pennuto, Maria, Tinelli, Elisa, Malaguti, MariaChiara, Del Carro, Ubaldo, D'Antonio, Maurizio, Ron, David, Quattrini, Angelo, Feltri, M. Laura, Wrabetz, Lawrence

“…Deletion of serine 63 from P0 glycoprotein (P0S63del) causes Charcot-Marie-Tooth 1B neuropathy in humans, and P0S63del produces a similar demyelinating…”
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Schwann cells, but not Oligodendrocytes, Depend Strictly on Dynamin 2 Function by Gerber, Daniel, Ghidinelli, Monica, Tinelli, Elisa, Somandin, Christian, Gerber, Joanne, Pereira, Jorge A, Ommer, Andrea, Figlia, Gianluca, Miehe, Michaela, Nägeli, Lukas G, Suter, Vanessa, Tadini, Valentina, Sidiropoulos, Páris Nm, Wessig, Carsten, Toyka, Klaus V, Suter, Ueli

“…Myelination requires extensive plasma membrane rearrangements, implying that molecules controlling membrane dynamics play prominent roles. The large GTPase…”
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Author Correction: Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease by Minnis, Christopher J, Townsend, StJohn, Petschnigg, Julia, Tinelli, Elisa, Bähler, Jürg, Russell, Claire, Mole, Sara E

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Dynamin 2 mutations in Charcot―Marie―Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination by SIDIROPOULO, Páris N. M, MIEH, Michael, BOCK, Thomas, TINELLI, Elisa, OERTLI, Carole I, KUNER, Rohini, MEIJER, Dies, WOLLSCHEID, Bernd, NIEMANN, Axel, SUTER, Ueli

“…Mutations in dynamin 2 (DNM2) lead to dominant intermediate Charcot-Marie-Tooth neuropathy type B, while a different set of DNM2 mutations cause autosomal…”
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MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B by Saporta, Mario A C, Shy, Brian R, Patzko, Agnes, Bai, Yunhong, Pennuto, Maria, Ferri, Cinzia, Tinelli, Elisa, Saveri, Paola, Kirschner, Dan, Crowther, Michelle, Southwood, Cherie, Wu, Xingyao, Gow, Alexander, Feltri, M Laura, Wrabetz, Lawrence, Shy, Michael E

“…Mutations in myelin protein zero (MPZ) cause Charcot-Marie-Tooth disease type 1B. Many dominant MPZ mutations, including R98C, present as infantile onset…”
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Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves by Tinelli, Elisa, Pereira, Jorge A, Suter, Ueli

“…The ubiquitously expressed large GTPase Dynamin 2 (DNM2) plays a critical role in the regulation of intracellular membrane trafficking through its crucial…”
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Author Correction: Global network analysis in Schizosaccharomycespombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease by Minnis, Christopher J., Townsend, StJohn, Petschnigg, Julia, Tinelli, Elisa, Bähler, Jürg, Russell, Claire, Mole, Sara E.

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NCLs and ER: A stressful relationship by Marotta, Davide, Tinelli, Elisa, Mole, Sara E.

“…The Neuronal Ceroid Lipofuscinoses (NCLs, Batten disease) are a group of inherited neurodegenerative disorders with variable age of onset, characterized by the…”
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L’illusione della conoscenza nei Paradossi di Ortensio Lando by Tinelli, Elisa

“…Il contributo prende in considerazione il Paradosso III (Meglio è d’esser ignorante che dotto) della raccolta dei Paradossi di Ortensio Lando (1543) con lo…”
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L’illusione della conoscenza nei Paradossi di Ortensio Lando by Elisa Tinelli

“…L’analyse a pour objet le Paradoxe III (Meglio è d’esser ignorante che dotto) dans la collection des Paradoxes d’Ortensio Lando (1543), dans le but d’en…”
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L’illusione della conoscenza nei Paradossi di Ortensio Lando by Tinelli, Elisa

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Reuse of building components – Assessment system to support decisions in indoor re-layout interventions by Giancarlo Paganin, Cinzia Maria Luisa Talamo, Nazly Atta, Elisa Tinelli

“…Compared to other industrial fields, the construction sector, although encouraged by a framework of international policies that push towards spreading circular…”
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RENATO RICCO, Sulle tracce di Didone. Fra Età Classica e Rinascimento, l’evoluzione letteraria di un mito, Napoli, Guida Editori, 2015 by Elisa Tinelli

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Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy by Pereira, Jorge A, Gerber, Joanne, Ghidinelli, Monica, Gerber, Daniel, Tortola, Luigi, Ommer, Andrea, Bachofner, Sven, Santarella, Francesco, Tinelli, Elisa, Lin, Shuo, Rüegg, Markus A, Kopf, Manfred, Toyka, Klaus V, Suter, Ueli

“…Abstract Some mutations affecting dynamin 2 (DNM2) can cause dominantly inherited Charcot–Marie–Tooth (CMT) neuropathy. Here, we describe the analysis of mice…”
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Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice by Wrabetz, Lawrence, D'Antonio, Maurizio, Pennuto, Maria, Dati, Gabriele, Tinelli, Elisa, Fratta, Pietro, Previtali, Stefano, Imperiale, Daniele, Zielasek, Jurgen, Toyka, Klaus, Avila, Robin L, Kirschner, Daniel A, Messing, Albee, Feltri, M. Laura, Quattrini, Angelo

“…Missense mutations in 22 genes account for one-quarter of Charcot-Marie-Tooth (CMT) hereditary neuropathies. Myelin Protein Zero (MPZ, P0) mutations produce…”
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P0S63del impedes the arrival of wild-type P0 glycoprotein to myelin in CMT1B mice by Fratta, Pietro, Saveri, Paola, Zambroni, Desiree, Ferri, Cinzia, Tinelli, Elisa, Messing, Albee, D'Antonio, Maurizio, Feltri, Maria Laura, Wrabetz, Lawrence

“…More than 120 mutations in the Myelin Protein Zero gene (MPZ, P0) cause various forms of hereditary neuropathy. Two human mutations encoding either P0S63C or…”
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P0S63del impedes the arrival of wild-type PO glycoprotein to myelin in CMT1 B mice by FRATTA, Pietro, SAVERI, Paola, ZAMBRONI, Desiree, FERRI, Cinzia, TINELLI, Elisa, MESSING, Albee, D'ANTONIO, Maurizio, LAURA FELTRI, Maria, WRABETZ, Lawrence

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Pathogenic P0 mutations are blocked at various quality control check points by Tinelli, Elisa, Modica, Graziana, Domenica, Vizzuso, Feltri, Maria Laura, Wrabetz, Lawrence

“…Abstract only In peripheral nerve, Schwann cells enwrap axons and form myelin. P0 is the most abundant transmembrane glycoprotein produced by Schwann cells,…”
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