Nina Horn

TL;DR: The construction of a phage contig and the isolation of candidate partial cDNAs for the Menkes disease gene are reported, leading to more accurate prenatal diagnosis of this severe disease and a better understanding of the cellular homeostasis of essential heavy metals.

TL;DR: Despite the favorable effects on the neurological symptoms, parenteral copper treatment for Menkes disease should still be regarded as experimental and the development of more effective treatments must await a more precise delineation of the role which the Menkes protein plays in intracellular copper trafficking.

TL;DR: Findings indicate that the presence of barely detectable amounts of correctly spliced ATP7A transcript is sufficient to permit the development of the milder OHS phenotype, as opposed to classic MD.

TL;DR: Recombinant Sco2 was shown to bind copper with a 1:1 stoichiometry and to form homomeric complexes in vitro, independent of the metal-binding motif, and suggests a possible therapy for the early treatment of this fatal infantile disease.

TL;DR: Genomic DNA of 41 unrelated patients affected with the classical severe form of Menkes disease was investigated for point mutations in the ATP7A gene, and five alterations were observed within the 6-bp sequence at the splice-donor site of intron 8, which would be predicted to affect the efficiency of splicing of exon 8.