caa a22 4500 397575068 CHVBK 20180308164853.0 cr unu---uuuuu 161202e199612 xx s 000 0 eng 10.1093/hmg/5.12.1989 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.12.1989 Expression of the Ceruloplasmin Gene in the Human Retina and Brain: Implications for a Pathogenic Model in Aceruloplasminemia [Elektronische Daten] [Leo W. J. Klomp, Jonathan D. Gitlin] Aceruloplasminemia is an autosomal recessive disorder of iron metabolism characterized by progressive neurodegeneration of the retina and basal ganglia in association with inherited mutations of the ceruloplasmin gene. To begin to elucidate the pathogenesis of this disease, ceruloplasmin gene expression was examined in human brain and retinal tissue. RNA blot analysis and RNAse protection studies demonstrate ceruloplasmin-specific transcripts in multiple regions of the human brain, and biosynthetic studies reveal ceruloplasmin synthesis and secretion in these same regions. Consistent with these observations, in situ hybridization of central nervous system tissue utilizing ceruloplasmin cRNA probes reveals abundant ceruloplasmin gene expression in specific populations of glial cells associated with the brain microvasculature, surrounding dopaminergic melanized neurons in the substantia nigra and within the inner nuclear layer of the retina. Taken in the context of the clinical and pathological features observed in patients with aceruloplasminemia, these data reveal that glial cell-specific ceruloplasmin gene expression is essential for iron homeostasis and neuronal survival in the human central nervous system. © 1993 Oxford University Press Klomp Leo W. J. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis Children's Hospital, One Children's Place, St Louis, MO 63110, USA aut Gitlin Jonathan D. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis Children's Hospital, One Children's Place, St Louis, MO 63110, USA aut Human Molecular Genetics Oxford University Press 5/12(1996-12), 1989-1996 0964-6906 5:12<1989 1996 5 hmg https://doi.org/10.1093/hmg/5.12.1989 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.12.1989 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Klomp Leo W. J. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis Children's Hospital, One Children's Place, St Louis, MO 63110, USA aut NATIONALLICENCE 700 1- Gitlin Jonathan D. Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis Children's Hospital, One Children's Place, St Louis, MO 63110, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/12(1996-12), 1989-1996 0964-6906 5:12<1989 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford