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siRNA screen identifies QPCT as a druggable target for Huntington’s disease
Maria Jimenez-Sanchez, Wun Lam, Michael Hannus, Birte Sönnichsen, Sara Imarisio, Angeleen Fleming, Alessia Tarditi, Fiona Menzies, Teresa Ed Dami, Catherine Xu, Eduardo Gonzalez-Couto, Giulia Lazzeroni, Freddy Heitz, Daniela Diamanti, Luisa Massai, Venkata P Satagopam, Guido Marconi, Chiara Caramelli, Arianna Nencini, Matteo Andreini, Gian Luca Sardone, Nicola P Caradonna, Valentina Porcari, Carla Scali, Reinhard Schneider, Giuseppe Pollio, Cahir J O’Kane, Andrea Caricasole, David C Rubinsztein
May 19, 2015
siRNA screen identifies QPCT as a druggable target for Huntington's disease.
Maria Jimenez-Sanchez, Wun Lam, Michael Hannus, Birte Sönnichsen, Sara Imarisio, Angeleen Fleming, Alessia Tarditi, Fiona Menzies, Teresa Ed Dami, Catherine Xu, Eduardo Gonzalez-Couto, Giulia Lazzeroni, Freddy Heitz, Daniela Diamanti, Luisa Massai, Venkata P Satagopam, Guido Marconi, Chiara Caramelli, Arianna Nencini, Matteo Andreini, Gian Luca Sardone, Nicola P Caradonna, Valentina Porcari, Carla Scali, Reinhard Schneider, Giuseppe Pollio, Cahir J O'Kane, Andrea Caricasole, David C Rubinsztein
Jan 10, 2018
Huntington's disease (HD) is a currently incurable neurodegenerative condition caused by an abnormally expanded polyglutamine tract in huntingtin (HTT). We identified new modifiers of mutant HTT toxicity by performing a...
Aminoacyltransferases Animals Cells Cultured Computational Biology Drosophila Drug Evaluation Preclinical Enzyme Inhibitors Green Fluorescent Proteins Humans Huntingtin Protein Huntington Disease Mice Mice Inbred C57BL Mutation Nerve Tissue Proteins Neurons RNA Small Interfering Zebrafish alpha-Crystallin B Chain
Engagement of nucleotide-binding oligomerization domain-containing protein 1 (NOD1) by receptor-interacting protein 2 (RIP2) is insufficient for signal transduction.
Caspase Death Domain Inflammation innate immunity NF-κB (NF-κB) Nod-like Receptor (NLR) Protein Kinase Protein-Protein Interaction Signal Transduction HEK293 Cells Humans Mutation Nod1 Signaling Adaptor Protein Protein Multimerization Protein Structure Secondary Protein Structure Tertiary Receptor-Interacting Protein Serine-Threonine Kinase 2 Signal Transduction
An efficient arabinoxylan-debranching α-L-arabinofuranosidase of family GH62 from Aspergillus nidulans contains a secondary carbohydrate binding site.
Casper Wilkens, Susan Andersen, Bent O Petersen, An Li, Marta Busse-Wicher, Johnny Birch, Darrell Cockburn, Hiroyuki Nakai, Hans EM Christensen, Birthe B Kragelund, Paul Dupree, Barry McCleary, Ole Hindsgaul, Maher Abou Hachem, Birte Svensson
Mar 21, 2016
Affinity gel electrophoresis Arabinoxylan Arabinoxylooligosaccharides Glycoside hydrolase family 62 Inverting mechanism Surface binding site Arabinose Aspergillus nidulans Binding Sites Catalytic Domain Cloning Molecular Fungal Proteins Gene Expression Regulation Fungal Glycoside Hydrolases Phylogeny Pichia Polysaccharides Protein Conformation Streptomyces Substrate Specificity Triticum Xylans Xylose beta-Glucans
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets
Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
Aug 12, 2021
Abstract: Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of...
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets
Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Rheinard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
Aug 12, 2020
Abstract: Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of...
Solve-RD
Birte Zurek, Kornelia Ellwanger, Lisenka ELM Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter AC 't Hoen, Antonio Vitobello, Julia M Schulze-Hentrich, Olaf Riess, Han G Brunner, Anthony J Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloes, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris Swertz, Dylan Spalding, Alexander Hoischen, Sergi Beltran, Holm Graessner, Solve-RD Consortium
Sep 15, 2021
For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300...
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets
Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
Mar 18, 2021
Abstract: Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of...
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets
Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
Jul 30, 2021
Abstract: Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of...
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets
Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
Mar 22, 2021
Abstract: Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of...
A collection of bacterial isolates from the pig intestine reveals functional and taxonomic diversity.
David Wylensek, Thomas CA Hitch, Thomas Riedel, Afrizal Afrizal, Neeraj Kumar, Esther Wortmann, Tianzhe Liu, Saravanan Devendran, Till R Lesker, Sara B Hernández, Viktoria Heine, Eva M Buhl, Paul M D'Agostino, Fabio Cumbo, Thomas Fischöder, Marzena Wyschkon, Torey Looft, Valeria R Parreira, Birte Abt, Heidi L Doden, Lindsey Ly, João MP Alves, Markus Reichlin, Krzysztof Flisikowski, Laura Navarro Suarez, Anthony P Neumann, Garret Suen, Tomas de Wouters, Sascha Rohn, Ilias Lagkouvardos, Emma Allen-Vercoe, Cathrin Spröer, Boyke Bunk, Anja J Taverne-Thiele, Marcel Giesbers, Jerry M Wells, Klaus Neuhaus, Angelika Schnieke, Felipe Cava, Nicola Segata, Lothar Elling, Till Strowig, Jason M Ridlon, Tobias AM Gulder, Jörg Overmann, Thomas Clavel
Jan 25, 2021
Our knowledge about the gut microbiota of pigs is still scarce, despite the importance of these animals for biomedical research and agriculture. Here, we present a collection of cultured bacteria from the pig gut, including 110...
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Elke de Boer, Charlotte W. Ockeloen, Leslie Matalonga, Rita Horvath, Richard J. Rodenburg, Marieke J. H. Coenen, Mirian Janssen, Dylan Henssen, Ida Paramonov, Aurélien Trimouille, Tjitske Kleefstra, Lisenka E. L. M. Vissers, Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Isabelle Nelson, Sophia Peters, Sivakumar Prasanth, Peter Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Ana Töpf, Joeri K. van der Velde, Antonio Vitobello, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Laurence Faivre, Tobias B. Haack, Anna Hammarsjö, Marketa Havlovicova, Alexander Hoischen, Anne Hugon, Adam Jackson, Anna Lindstrand, Estrella López-Martín, Milan, Jr. Macek, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Michele Pinelli, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Alain Verloes, Lisenka Vissers, Klea Vyshka, Birte Zurek
Sep 15, 2021