Rare GRN mutation in a patient diagnosed with primary progressive aphasia and  parkinsonism.

Autor: Perković R; Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia. romana.per@gmail.com., Jerčić KG; Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia.; Department of Functional Genomics, Center for Translational and Clinical Research, University of Zagreb School of Medicine, Zagreb, Croatia., Frančić M; University of Zagreb School of Medicine, Zagreb, Croatia., Ozretić D; Department of Radiology, University Hospital Center Zagreb, Zagreb, Croatia., Borovečki F; Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia.; Department of Functional Genomics, Center for Translational and Clinical Research, University of Zagreb School of Medicine, Zagreb, Croatia.

Publikováno v: Acta neurologica Belgica [Acta Neurol Belg] 2023 Apr; Vol. 123 (2), pp. 727-729. Date of Electronic Publication: 2022 Aug 18.

Alpha-synuclein deregulates the expression of COL4A2 and impairs ER-Golgi function.

Autor: Paiva I; Department of Experimental Neurodegeneration, Center for Nanoscale Microscopy and Molecular Physiology of the Brain, Center for Biostructural Imaging of Neurodegeneration, University Medical Center Göttingen, Göttingen 37073, Germany., Jain G; Department for Epigenetics and Systems Medicine in Neurodegenerative Diseases, German Center for Neurodegenerative Diseases (DZNE) Göttingen, Göttingen, Germany., Lázaro DF; Department of Experimental Neurodegeneration, Center for Nanoscale Microscopy and Molecular Physiology of the Brain, Center for Biostructural Imaging of Neurodegeneration, University Medical Center Göttingen, Göttingen 37073, Germany., Jerčić KG; Department for Functional Genomics, Center for Translational and Clinical Research, University Hospital Center Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia., Hentrich T; Institute of Medical Genetics and Applied Genomics, Faculty of Medicine, University of Tübingen, Tübingen 72076, Germany., Kerimoglu C; Department for Epigenetics and Systems Medicine in Neurodegenerative Diseases, German Center for Neurodegenerative Diseases (DZNE) Göttingen, Göttingen, Germany; Department of Psychiatry and Psychotherapy, University Medical Center Göttingen, Göttingen, Germany., Pinho R; Department of Experimental Neurodegeneration, Center for Nanoscale Microscopy and Molecular Physiology of the Brain, Center for Biostructural Imaging of Neurodegeneration, University Medical Center Göttingen, Göttingen 37073, Germany., Szegő ÈM; Department of Experimental Neurodegeneration, Center for Nanoscale Microscopy and Molecular Physiology of the Brain, Center for Biostructural Imaging of Neurodegeneration, University Medical Center Göttingen, Göttingen 37073, Germany., Burkhardt S; Department for Epigenetics and Systems Medicine in Neurodegenerative Diseases, German Center for Neurodegenerative Diseases (DZNE) Göttingen, Göttingen, Germany., Capece V; Department for Epigenetics and Systems Medicine in Neurodegenerative Diseases, German Center for Neurodegenerative Diseases (DZNE) Göttingen, Göttingen, Germany., Halder R; Department for Epigenetics and Systems Medicine in Neurodegenerative Diseases, German Center for Neurodegenerative Diseases (DZNE) Göttingen, Göttingen, Germany., Islam R; Department for Epigenetics and Systems Medicine in Neurodegenerative Diseases, German Center for Neurodegenerative Diseases (DZNE) Göttingen, Göttingen, Germany., Xylaki M; Department of Experimental Neurodegeneration, Center for Nanoscale Microscopy and Molecular Physiology of the Brain, Center for Biostructural Imaging of Neurodegeneration, University Medical Center Göttingen, Göttingen 37073, Germany., Caldi Gomes LA; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany., Roser AE; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany., Lingor P; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany., Schulze-Hentrich JM; Institute of Medical Genetics and Applied Genomics, Faculty of Medicine, University of Tübingen, Tübingen 72076, Germany., Borovečki F; Department for Functional Genomics, Center for Translational and Clinical Research, University Hospital Center Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia., Fischer A; Department for Epigenetics and Systems Medicine in Neurodegenerative Diseases, German Center for Neurodegenerative Diseases (DZNE) Göttingen, Göttingen, Germany; Department of Psychiatry and Psychotherapy, University Medical Center Göttingen, Göttingen, Germany., Outeiro TF; Department of Experimental Neurodegeneration, Center for Nanoscale Microscopy and Molecular Physiology of the Brain, Center for Biostructural Imaging of Neurodegeneration, University Medical Center Göttingen, Göttingen 37073, Germany; CEDOC - Chronic Diseases Research Center, Faculdade de Ciencias Medicas, Universidade Nova de Lisboa, Lisboa, Portugal; Max Planck Institute for Experimental Medicine, Göttingen 37075, Germany; Institute of Neuroscience, The Medical School, Newcastle University, Framlington Place, Newcastle NE2 4HH, UK. Electronic address: touteir@gwdg.de.

Publikováno v: Neurobiology of disease [Neurobiol Dis] 2018 Nov; Vol. 119, pp. 121-135. Date of Electronic Publication: 2018 Aug 06.