Article
Down syndrome clinical symptoms are manifested in transfected cells and transgenic mice overexpressing the human Cu/Zn-superoxide dismutase gene.
Journal de physiologie - 1 Jan 1990
Groner Y, Elroy-Stein O, Avraham K B, Yarom R, Schickler M, Knobler H, Rotman G
Abstract excerpt
Down syndrome (DS), the phenotypic expression of human trisomy 21, is presumed to result from overexpression of certain genes residing on chromosome 21 at the segment 21q22-the Down locus. The "housekeeping" enzyme CuZn-superoxide dismutase (CuZnSOD) is encoded by a gene from that region and its...
Topics
- Animals
- Cell Line
- Chromaffin Granules
- Disease Models, Animal
- Down Syndrome
- Gene Expression
- Humans
- Mice
- Mice, Transgenic
- Microscopy, Electron
- Neuromuscular Junction
- Neurotransmitter Agents
- Phenotype
- Rats
- Superoxide Dismutase
- Transfection