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Articles, 2 records found
Articles 2 records found  
1.
23 p, 4.3 MB Sex-dependent calcium hyperactivity due to lysosomal-related dysfunction in astrocytes from APOE4 versus APOE3 gene targeted replacement mice / Larramona-Arcas, Raquel (Universitat Autónoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; González-Arias, Candela (Cajal Institute, Consejo Superior de Investigaciones Científicas (CSIC)) ; Perea, Gertrudis (Cajal Institute, Consejo Superior de Investigaciones Científicas (CSIC)) ; Gutiérrez, Antonia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED)) ; Vitorica, Javier (Universidad de Sevilla, Instituto de Biomedicina de Sevilla (IBiS)-Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla. Departamento de Bioquímica y Biología Molecular, Facultad de Farmacia) ; García-Barrera, Tamara (Universidad de Huelva. Departamento de Química, Facultad de Ciencias Experimentales, Campus de El Carmen, Centro de Investigación en Recursos Naturales, Salud y Medio Ambiente (RENSMA)) ; Gómez-Ariza, José Luis (Universidad de Huelva. Departamento de Química, Facultad de Ciencias Experimentales, Campus de El Carmen, Centro de Investigación en Recursos Naturales, Salud y Medio Ambiente (RENSMA)) ; Pascua-Maestro, Raquel (Instituto de Biología y Genética Molecular, Universidad de Valladolid-CSIC. Departamento de Bioquímica y Biología Molecular y Fisiología) ; Ganfornina, María Dolores (Instituto de Biología y Genética Molecular, Universidad de Valladolid-CSIC. Departamento de Bioquímica y Biología Molecular y Fisiología) ; Kara, Eleanna (Present Address: Institute of Neuropathology, University Hospital of Zurich) ; Hudry, Eloise (Alzheimer's Disease Research Laboratory, MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA 02129 USA) ; Martinez-Vicente, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Vila Bover, Miquel (Universitat Autónoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Galea, Elena (Universitat Autónoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Masgrau, Roser (Universitat Autónoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
The apolipoprotein E (APOE) gene exists in three isoforms in humans: APOE2, APOE3 and APOE4. APOE4 causes structural and functional alterations in normal brains, and is the strongest genetic risk factor of the sporadic form of Alzheimer's disease (LOAD). [...]
2020 - 10.1186/s13024-020-00382-8
Molecular neurodegeneration, Vol. 15 (june 2020)  
2.
16 p, 3.8 MB Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia / Tuschl, Karin (University College London. Institute of Child Health) ; Meyer, Esther (University College London. Institute of Child Health) ; Valdivia, Leonardo E. (University College London. Department of Cell and Developmental Biology) ; Zhao, Ningning (Oregon Health and Science University. Department of Cell, Development and Cancer Biology) ; Dadswell, Chris (University of Sussex. Department of Chemistry, School of Life Sciences) ; Abdul-Sada, Alaa (University of Sussex. Department of Chemistry, School of Life Sciences) ; Hung, Christina Y. (Harvard Medical School. Division of Genetics and Genomics) ; Simpson, Michael A. (King's College London School of Medicine. Division of Genetics and Molecular Medicine) ; Chong, W.K. (Great Ormond Street Hospital for Children. Department of Radiology (Londres)) ; Jacques, Thomas S. (Great Ormond Street Hospital for Children. Department of Histopathology (Londres)) ; Woltjer, Randy L. (Oregon Health and Science University. Department of Pathology) ; Eaton, Simon (University College London. Institute of Child Health) ; Gregory, Allison (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Sanford, Lynn (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Kara, Eleanna (University College London. Institute of Neurology) ; Houlden, Henry (University College London. Institute of Neurology) ; Cuno, Stephan M. (Technical University of Munich. Institute of Human Genetics) ; Prokisch, Holger (Technical University of Munich. Institute of Human Genetics) ; Valletta, Lorella (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Tiranti, Valeria (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Younis, Rasha (University of Birmingham. Department of Medical and Molecular Genetics) ; Maher, Eamonn R. (University of Birmingham. Centre for Rare Diseases and Personalised Medicine) ; Spencer, John (University of Sussex. Department of Chemistry, School of Life Sciences) ; Straatman Iwanowska, Ania (University College London. Laboratory for Molecular Cell Biology and Cell Biology Unit) ; Gissen, Paul (University College London. Institute of Child Health) ; Selim, Laila A.M. (Cairo University Children's Hospital. Department of Paediatric Neurology) ; Pintos Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Coroleu Lletget, Wifredo (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Mohammad, Shekeeb S. (University of Sydney. Institute for Neuroscience and Muscle Research) ; Yoganathan, Sangeetha (Christian Medical College Hospital. Department of Neurological Sciences (Vellore, Índia)) ; Dale, Russell C. (University of Sydney. Institute for Neuroscience and Muscle Research) ; Thomas, Maya (Christian Medical College Hospital. Department of Neurological Sciences (Vellore, Índia)) ; Rihel, Jason (University College London. Department of Cell and Developmental Biology) ; Bodamer, Olaf A. (Harvard Medical School. Division of Genetics and Genomics) ; Enns, Caroline A. (Oregon Health & Sciences University. Department of Cell, Development and Cancer Biology) ; Hayflick, Susan J. (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Clayton, Peter T. (University College London. Institute of Child Health) ; Mills, Philippa B. (University College London. Institute of Child Health) ; Kurian, Manju A. (University College London. Institute of Child Health) ; Wilson, Stephen W. (University College London. Department of Cell and Developmental Biology)
Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14. [...]
2016 - 10.1038/ncomms11601
Nature communications, Vol. 7 Núm. 11601 (May 2016)  

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