Inherited Disorders of Copper Transport

Gitschier, Jane M.

Abstract

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
• Type: Research Project (R01)
• Project #: 5R01DK047192-03
• Application #: 2146535
• Study Section: Mammalian Genetics Study Section (MGN)
• Project Start: 1994-08-01
• Project End: 1998-11-30
• Budget Start: 1996-08-01
• Budget End: 1998-11-30
• Support Year: 3
• Fiscal Year: 1996

Institution

• Name: University of California San Francisco
• Department: Pediatrics
• Type: Schools of Medicine
• DUNS #: 073133571
• City: San Francisco
• State: CA
• Country: United States
• Zip Code: 94143

Publications

Kuo, Y M; Su, T; Chen, H et al. (2004) Mislocalisation of hephaestin, a multicopper ferroxidase involved in basolateral intestinal iron transport, in the sex linked anaemia mouse. Gut 53:201-6

Fu, X; Rinaldo, P; Hahn, S H et al. (2003) Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes. J Inherit Metab Dis 26:55-66

Murata, Y; Kodama, H; Abe, T et al. (1997) Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease. Pediatr Res 42:436-42

Ferenci, P; Gilliam, T C; Gitlin, J D et al. (1996) An international symposium on Wilson's and Menkes' diseases. Hepatology 24:952-8

Vulpe, C D; Packman, S (1995) Cellular copper transport. Annu Rev Nutr 15:293-322

Das, S; Levinson, B; Vulpe, C et al. (1995) Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am J Hum Genet 56:570-6