Article
Cell damage by excess CuZnSOD and Down's syndrome.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie - 1 Jan 1994
Groner Y, Elroy-Stein O, Avraham K B, Schickler M, Knobler H, Minc-Golomb D, Bar-Peled O, Yarom R, Rotshenker S
Abstract excerpt
Down's 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 activity is elevated in DS patients. Moreover, the recent discovery that familial ALS is associated with mutations in...
Topics
- Animals
- Cells, Cultured
- Down Syndrome
- Mice
- Mice, Transgenic
- Phenotype
- Serotonin
- Superoxide Dismutase
- Transfection