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A non-canonical ESCRT pathway, including histidine domain phosphotyrosine phosphatase (HD-PTP), is used for down-regulation of virally ubiquitinated MHC class I.
Michael DJ Parkinson, Siân C Piper, Nicholas A Bright, Jennifer L Evans, Jessica M Boname, Katherine Bowers, Paul J Lehner, J Paul Luzio
Jul 30, 2015
Endocytosis endosomal sorting complex required for transport (ESCRT) histidine domain phosphotyrosine phosphatase (HD-PTP) histidine-domain protein tyrosine phosphatase non-receptor type 23 (PTPN23) lysosome ubiquitination (ubiquitylation) Down-Regulation Endosomal Sorting Complexes Required for Transport HeLa Cells Herpesvirus 8 Human Histocompatibility Antigens Class I Humans Protein Tyrosine Phosphatases Non-Receptor Ubiquitination Viral Proteins
Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.
Daniel F Burgos, Lorena Cussó, Gentzane Sánchez-Elexpuru, Daniel Calle, Max Bautista Perpinyà, Manuel Desco, José M Serratosa, Marina P Sánchez
Oct 21, 2020
Mutations in the EPM2A and EPM2B genes, encoding laforin and malin proteins respectively, are responsible for Lafora disease, a fatal form of progressive myoclonus epilepsy with autosomal recessive inheritance. Neuroimaging...
1H-HRMAS MRS FDG PET Lafora disease MRI brain metabolites Mouse models Volumetry Animals Atrophy basal ganglia Brain Brain Diseases cerebellum Cerebral Cortex Disease Models Animal Glucose Hippocampus Humans Lafora Disease Magnetic Resonance Imaging Mice Knockout Mutation Positron-Emission Tomography Protein Tyrosine Phosphatases Non-Receptor Ubiquitin-Protein Ligases
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...