Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-019-0345-1
Abstract: Wilson disease (WD) is an autosomal recessive disease of copper excess due to pathogenic variants in the ATP7B gene coding for a copper-transporting ATPase. We present a 5-year-old girl with the homozygous frame shift variant… read more here.
Keywords: atp7b; copper; exon; copper export ... See more keywords
Copper Chaperone CupA and Zinc Control CopY Regulation of the Pneumococcal cop Operon
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DOI: 10.1128/msphere.00372-17
Abstract: As mechanisms of copper toxicity are emerging, bacterial processing of intracellular copper, specifically inside Streptococcus pneumoniae, remains unclear. In this study, we investigated two proteins encoded by the copper export operon: the repressor, CopY, and… read more here.
Keywords: operon; copper; copy; cupa ... See more keywords