UAB Digital Repository of Documents 3 records found  Search took 0.03 seconds. 
1.
10 p, 3.3 MB Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome / Polex-Wolf, Joseph (Medical Research Council (MRC) Metabolic Diseases Unit) ; Lam, Brian Y.H. (Medical Research Council (MRC) Metabolic Diseases Unit, University of Cambridge Metabolic Research Laboratories) ; Larder, Rachel (Medical Research Council (MRC) Metabolic Diseases Unit, University of Cambridge Metabolic Research Laboratories) ; Tadross, John (Medical Research Council (MRC) Metabolic Diseases Unit, University of Cambridge Metabolic Research Laboratories) ; Rimmington, Debra (Medical Research Council (MRC) Metabolic Diseases Unit, University of Cambridge Metabolic Research Laboratories) ; Bosch, Fàtima (Universitat Autònoma de Barcelona. Centre de Biotecnologia Animal i de Teràpia Gènica) ; Bosch i Tubert, Fàtima (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Cenzano, Verónica Jiménez (Universitat Autònoma de Barcelona. Centre de Biotecnologia Animal i de Teràpia Gènica) ; Ayuso, Eduard (Universitat Autònoma de Barcelona. Centre de Biotecnologia Animal i de Teràpia Gènica) ; Ma, Marcella K.L. (Medical Research Council (MRC) Metabolic Diseases Unit, University of Cambridge Metabolic Research Laboratories) ; Rainbow, Kara (Medical Research Council (MRC) Metabolic Diseases Unit, University of Cambridge Metabolic Research Laboratories) ; Coll, Anthony P. (Medical Research Council (MRC) Metabolic Diseases Unit, University of Cambridge Metabolic Research Laboratories) ; O'Rahilly, Stephen (Medical Research Council (MRC) Metabolic Diseases Unit, University of Cambridge Metabolic Research Laboratories) ; Yeo, Giles S.H. (Medical Research Council (MRC) Metabolic Diseases Unit, University of Cambridge Metabolic Research Laboratories)
Profound hyperphagia is a major disabling feature of Prader-Willi syndrome (PWS). Characterization of the mechanisms that underlie PWS-associated hyperphagia has been slowed by the paucity of animal models with increased food intake or obesity. [...]
2018 - 10.1172/JCI97007
The Journal of Clinical Investigation, Vol. 128 (january 2018) , p. 960-969  
2.
16 p, 2.6 MB Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi / Knies, Kerstin (Bayerische Julius-Maximilians-Universität Würzburg. Institut für Humangenetik) ; Inano, Shojiro (Kyōto Daigaku. Laboratory of DNA Damage Signaling) ; Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ishiai, Masamichi (Kyōto Daigaku. Laboratory of DNA Damage Signaling) ; Surrallés i Calonge, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Takata, 5Minoru (Kyōto Daigaku. Laboratory of DNA Damage Signaling) ; Schindler, Detlev (Bayerische Julius-Maximilians-Universität Würzburg. Institut für Humangenetik)
The WD40-containing E3 ubiquitin ligase RFWD3 has been recently linked to the repair of DNA damage by homologous recombination (HR). Here we have shown that an RFWD3 mutation within the WD40 domain is connected to the genetic disease Fanconi anemia (FA). [...]
2017 - 10.1172/JCI92069
The Journal of clinical investigation, Vol. 127, issue 8 (Auyg. 2017) , p. 3013-3027  
3.
18 p, 12.2 MB Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy. / Haurigot Mendonça, Virginia (Centre de Biotecnologia Animal i de Teràpia Gènica) ; Marcó, Sara ; Ribera, Albert ; Garcia, Miquel ; Ruzo, Albert ; Villacampa, Pilar ; Ayuso López, Eduard (Universitat Autònoma de Barcelona. Departament de Bioquímica i Biologia Molecular) ; Añor Torres, Sònia (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animal) ; Andaluz Martínez, Anna (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ; Pineda, Mercedes ; García-Fructuoso, Gemma ; Molas, Maria ; Maggioni, Luca ; Muñoz, Sergio ; Motas, Sandra ; Ruberte París, Jesús (Universitat Autònoma de Barcelona. Centre de Biotecnologia Animal i Teràpia Gènica (CBATEG)) ; Mingozzi, Federicco ; Pumarola i Batlle, Martí (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia) ; Bosch i Tubert, Fàtima (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
For most lysosomal storage diseases (LSDs) affecting the CNS, there is currently no cure. The BBB, which limits the bioavailability of drugs administered systemically, and the short half-life of lysosomal enzymes, hamper the development of effective therapies. [...]
2013 - 10.1172/JCI66778
The Journal of Clinical Investigation, Vol. 123 Núm. 8 (August 2013) , p. 3254-3271  

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