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Results: 21
The genetic landscape of axonal neuropathies in the middle-aged and elderly
Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, Lisa Abreu, Jonathan Baets, Christian Beetz, Geir J Braathen, David Brenner, Joline Dalton, Lois Dankwa, Tine Deconinck, Peter De Jonghe, Bianca Dräger, Katja Eggermann, Melina Ellis, Carina Fischer, Tanya Stojkovic, David N Herrmann, Rita Horvath, Helle Høyer, Stephan Iglseder, Marina Kennerson, Katharina Kinslechner, Jennefer N Kohler, Ingo Kurth, Nigel G Laing, Phillipa J Lamont, Löscher Wolfgang N, Albert Ludolph, Wilson Marques, Garth Nicholson, Royston Ong, Susanne Petri, Gianina Ravenscroft, Adriana Rebelo, Giulia Ricci, Sabine Rudnik-Schöneborn, Anja Schirmacher, Beate Schlotter-Weigel, Ludger Schoels, Rebecca Schüle, Matthis Synofzik, Bruno Francou, Tim M Strom, Johannes Wagner, David Walk, Julia Wanschitz, Daniela Weinmann, Jochen Weishaupt, Manuela Wiessner, Reinhard Windhager, Peter Young, Stephan Züchner, Stefan Toegel, Pavel Seeman, Andrzej Kochański, Michaela Auer-Grumbach
Nov 19, 2020
OBJECTIVE: To test the hypothesis that monogenic neuropathies such as Charcot-Marie-Tooth disease (CMT) contribute to frequent but often unexplained neuropathies in the elderly, we performed genetic analysis of 230 patients with...
The role of tRNA synthetases in neurological and neuromuscular disorders.
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes responsible for charging tRNAs with their cognate amino acids, therefore essential for the first step in protein synthesis. Although the majority of protein...
Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C.
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.
Julius Rönkkö, Svetlana Molchanova, Anya Revah-Politi, Elaine M Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig, Julika Neumann, Geert Bultynck, Stéphanie Humblet-Baron, Adrian Liston, Anders Paetau, Claudio Rivera, Matthew B Harms, Henna Tyynismaa, Emil Ylikallio
Nov 13, 2020
OBJECTIVE: ITPR3, encoding inositol 1,4,5-trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot-Marie-Tooth neuropathy. Here, we present genetic and functional evidence that...
Targeted Therapies for Hereditary Peripheral Neuropathies
BACKGROUND: Hereditary peripheral neuropathies are inherited disorders affecting the peripheral nervous system, including Charcot-Marie-Tooth disease, familial amyloid polyneuropathy and hereditary sensory and motor...
Modelling Charcot-Marie-Tooth disease in a dish reveals common cell type-specific alterations.
This scientific commentary refers to ‘Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction’, by Van Lent et al. (doi:10.1093/brain/awab226).
Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.
Boglarka Bansagi, Thalia Antoniadi, Sarah Burton-Jones, Sinead M Murphy, John McHugh, Michael Alexander, Richard Wells, Joanna Davies, David Hilton-Jones, Hanns Lochmüller, Patrick Chinnery, Rita Horvath
Mar 07, 2019
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy with heterogeneous clinical presentation and genetic background. The axonal form (CMT2) is characterised by decreased action potentials indicating primary...
CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS.
Litao Sun, Na Wei, Bernhard Kuhle, David Blocquel, Scott Novick, Zaneta Matuszek, Huihao Zhou, Weiwei He, Jingjing Zhang, Thomas Weber, Rita Horvath, Philippe Latour, Tao Pan, Paul Schimmel, Patrick R Griffin, Xiang-Lei Yang
May 24, 2021
Through dominant mutations, aminoacyl-tRNA synthetases constitute the largest protein family linked to Charcot-Marie-Tooth disease (CMT). An example is CMT subtype 2N (CMT2N), caused by individual mutations spread out in AlaRS...
AlaRS Charcot-Marie-Tooth disease Neuropilin 1 Alanine-tRNA Ligase Aminoacylation Cells Cultured Charcot-Marie-Tooth disease Crystallography X-Ray Deuterium Exchange Measurement Humans Lymphocytes Mutation Neuropilin-1 Primary Cell Culture Protein Binding Protein Domains Recombinant Proteins SCATTERING Small Angle
AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy.
Alexia Kagiava, Christos Karaiskos, Jan Richter, Christina Tryfonos, Matthew J Jennings, Amanda J Heslegrave, Irene Sargiannidou, Marina Stavrou, Henrik Zetterberg, Mary M Reilly, Christina Christodoulou, Rita Horvath, Kleopas A Kleopa
Mar 15, 2021
Mutations in the GJB1 gene, encoding the gap junction (GJ) protein connexin32 (Cx32), cause X-linked Charcot-Marie-Tooth disease (CMT1X), an inherited demyelinating neuropathy. We developed a gene therapy approach for CMT1X...
Effective therapeutic strategies in a preclinical mouse model of Charcot-Marie-Tooth disease.
Cristina Nuevo-Tapioles, Fulvio Santacatterina, Brenda Sánchez-Garrido, Cristina Núñez de Arenas, Adrián Robledo-Bérgamo, Paula Martínez-Valero, Lara Cantarero, Beatriz Pardo, Janet Hoenicka, Michael P Murphy, Jorgina Satrústegui, Francesc Palau, José M Cuezva
Aug 02, 2021
Charcot-Marie-Tooth (CMT) disease is a neuropathy that lacks effective therapy. CMT patients show degeneration of peripheral nerves, leading to muscle weakness and loss of proprioception. Loss of mitochondrial oxidative...
Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2
IA Tchasovnikarova, RT Timms, CH Douse, RC Roberts, G Dougan, RE Kingston, Y Modis, PJ Lehner
Jul 13, 2017
Adenosine Triphosphatases CRISPR-Cas Systems Charcot-Marie-Tooth disease Chromatin Assembly and Disassembly Epigenetic Repression Gene Silencing HeLa Cells Heterochromatin Histone Code Histone-Lysine N-Methyltransferase Histones Humans Lysine Methylation Multiprotein Complexes Mutation Missense Neurons Protein Domains Protein Interaction Mapping Protein Methyltransferases Protein Processing Post-Translational Transcription Factors Transgenes
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease.
James R Edgar, Anita K Ho, Matilde Laurá, Rita Horvath, Mary M Reilly, J Paul Luzio, Rhys C Roberts
Sep 28, 2020
Autosomal dominant mutations in LITAF are responsible for the rare demyelinating peripheral neuropathy, Charcot-Marie-Tooth disease type 1C (CMT1C). The LITAF protein is expressed in many human cell types and we have...
Charcot–Marie–Tooth endosome LITAF lysosome Peripheral neuropathy phosphoinositide Adult Charcot-Marie-Tooth disease Endosomes Female FIBROBLASTS Flavoproteins Gene Knockout Techniques Humans Loss of Function Mutation Lysosomes Male Microscopy Confocal Microscopy Electron Middle Aged Nuclear Proteins Phosphoric Monoester Hydrolases Transcription Factors Transient Receptor Potential Channels Vacuoles
Enhancing folic acid metabolism suppresses defects associated with loss of Drosophila mitofusin.
Juan Garrido-Maraver, Ivana Celardo, Ana C Costa, Susann Lehmann, Samantha HY Loh, L Miguel Martins
Feb 27, 2019
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Francis B Panosyan, Matilde Laura, Alexander M Rossor, Chiara Pisciotta, Giuseppe Piscosquito, Joshua Burns, Jun Li, Sabrina W Yum, Richard A Lewis, John Day, Rita Horvath, David N Herrmann, Michael E Shy, Davide Pareyson, Mary M Reilly, Steven S Scherer, Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN)
Mar 07, 2019
OBJECTIVE: To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships. METHODS: Mutations in GJB1 cause the main X-linked form of CMTX (CMTX1). We report...
Natural history of Charcot-Marie-Tooth disease type 2A
Menelaos Pipis, Shawna ME Feely, James M Polke, Mariola Skorupinska, Laura Perez, Rosemary R Shy, Matilde Laura, Jasper M Morrow, Isabella Moroni, Chiara Pisciotta, Franco Taroni, Dragan Vujovic, Thomas E Lloyd, Gyula Acsadi, Sabrina W Yum, Richard A Lewis, Richard S Finkel, David N Herrmann, John W Day, Jun Li, Mario Saporta, Reza Sadjadi, David Walk, Joshua Burns, Francesco Muntoni, Sindhu Ramchandren, Rita Horvath, Nicholas E Johnson, Stephan Züchner, Davide Pareyson, Steven S Scherer, Alexander M Rossor, Michael E Shy, Mary M Reilly, Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)
Oct 15, 2020
Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role in mitochondrial fusion. Mutations in MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth...
Charcot-Marie-Tooth Examination Score v2.0 Charcot-Marie-Tooth disease type 2A genotype-phenotype correlations mitofusin-2 standardized response mean Adolescent Adult Age of Onset Charcot-Marie-Tooth disease Child Child Preschool Cohort Studies Disease Progression Female GTP Phosphohydrolases Genes Dominant Genes Recessive Genetic Association Studies Genetic Markers Humans Infant Longitudinal Studies Male Mitochondrial Proteins Neurologic Examination Orthotic Devices Prognosis Prospective Studies Wheelchairs Young Adult
MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.
Delfina Larrea, Marta Pera, Adriano Gonnelli, Rubén Quintana-Cabrera, H Orhan Akman, Cristina Guardia-Laguarta, Kevin R Velasco, Estela Area-Gomez, Federica Dal Bello, Diego De Stefani, Rita Horvath, Michael E Shy, Eric A Schon, Marta Giacomello
Jun 28, 2019
Charcot-Marie-Tooth disease (CMT) type 2A is a form of peripheral neuropathy, due almost exclusively to dominant mutations in the nuclear gene encoding the mitochondrial protein mitofusin-2 (MFN2). However, there is no...
Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.
Silvia Cipriani, Vietxuan Phan, Jean-Jacques Médard, Rita Horvath, Hanns Lochmüller, Roman Chrast, Andreas Roos, Sally Spendiff
Feb 22, 2019
The neuromuscular junction (NMJ) appears to be a site of pathology in a number of peripheral nerve diseases. Charcot-Marie-Tooth (CMT) 4C is an autosomal recessive, early onset, demyelinating neuropathy. Numerous mutations in...
Charcot-Marie-Tooth disease 4C SH3TC2 Demyelination Mouse models Neuromuscular Junction Peripheral neuropathy Animals Carrier Proteins Charcot-Marie-Tooth disease Disease Models Animal Exons Gene Knockdown Techniques Intracellular Signaling Peptides and Proteins Mice Mice Mutant Strains Muscle Skeletal Mutation Neuromuscular Junction Sciatic Nerve
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Davide Pareyson, Tanya Stojkovic, Mary M Reilly, Sarah Leonard-Louis, Matilde Laurà, Julian Blake, Yesim Parman, Esra Battaloglu, Meriem Tazir, Mounia Bellatache, Nathalie Bonello-Palot, Nicolas Lévy, Sabrina Sacconi, Raquel Guimarães-Costa, Sharham Attarian, Philippe Latour, Guilhem Solé, André Megarbane, Rita Horvath, Giulia Ricci, Byung-Ok Choi, Angelo Schenone, Chiara Gemelli, Alessandro Geroldi, Mario Sabatelli, Marco Luigetti, Lucio Santoro, Fiore Manganelli, Aldo Quattrone, Paola Valentino, Tatsufumi Murakami, Steven S Scherer, Lois Dankwa, Michael E Shy, Chelsea J Bacon, David N Herrmann, Alberto Zambon, Irene Tramacere, Chiara Pisciotta, Stefania Magri, Stefano C Previtali, Alessandra Bolino
May 28, 2019
OBJECTIVE: Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3 shows a more heterogeneous...
Genetic heterogeneity of motor neuropathies.
Boglarka Bansagi, Helen Griffin, Roger G Whittaker, Thalia Antoniadi, Teresinha Evangelista, James Miller, Mark Greenslade, Natalie Forester, Jennifer Duff, Anna Bradshaw, Stephanie Kleinle, Veronika Boczonadi, Hannah Steele, Venkateswaran Ramesh, Edit Franko, Angela Pyle, Hanns Lochmüller, Patrick F Chinnery, Rita Horvath
Oct 29, 2019
OBJECTIVE: To study the prevalence, molecular cause, and clinical presentation of hereditary motor neuropathies in a large cohort of patients from the North of England. METHODS: Detailed neurologic and electrophysiologic...
Adolescent Adult Aged Analysis of Variance Charcot-Marie-Tooth disease Cohort Studies connexins DNA Mutational Analysis Electromyography England Family Health Female GTP Phosphohydrolases Genetic Heterogeneity Hereditary Sensory and Motor Neuropathy Humans Male Middle Aged Mitochondrial Proteins Mutation Myelin Proteins Neural Conduction Young Adult