Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase

Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

(2012) Peter Huppke et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copper: An essential metal in biology

(2011) Richard A. Festa et al.   CURRENT BIOLOGY

Erythrocyte Copper Chaperone for Superoxide Dismutase Is Increased following Marginal Copper Deficiency in Adult and Postweanling Mice

(2011) Katie C. Lassi et al.   JOURNAL OF NUTRITION

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

(2010) Marina L. Kennerson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copper Metallochaperones

(2010) Nigel J. Robinson et al.   Annual Review of Biochemistry

Human copper homeostasis: a network of interconnected pathways

(2010) Svetlana Lutsenko   CURRENT OPINION IN CHEMICAL BIOLOGY

Regulation of the Copper Chaperone CCS by XIAP-Mediated Ubiquitination

(2010) G. F. Brady et al.   MOLECULAR AND CELLULAR BIOLOGY

Molecular diagnosis of Menkes disease: Genotype–phenotype correlation

(2009) Lisbeth Birk Møller et al.   BIOCHIMIE

Human copper transporter Ctr1 is functional in Drosophila, revealing a high degree of conservation between mammals and insects

(2009) Haiqing Hua et al.   JOURNAL OF BIOLOGICAL INORGANIC CHEMISTRY

Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R

(2008) Jingrong Tang et al.   MOLECULAR GENETICS AND METABOLISM