11 citations
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November 1991 in “Journal of Neuropathology & Experimental Neurology” This study found that brindled mottled mice, a model of Kinky hair syndrome, exhibited abnormal development of catecholamine neurons, with increased TH-immunoreactive neurons and altered neurochemical profiles compared to controls.
40 citations
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July 1981 in “Journal of Neuropathology & Experimental Neurology” In this study, brindled mutant mice with clinical features similar to kinky hair syndrome showed marked improvement and prevention of neuronal degeneration after receiving cupric chloride injections, with timing of administration being crucial.
April 1981 in “Pediatric research” This study found that abnormal liver and kidney copper metabolism in Br females had no clinical effects, whereas defective brain copper metabolism in Br males was clinically significant.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.
23 citations
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August 1975 in “Experimental Biology and Medicine” This study found that supplementing pregnant and lactating mice with high dietary copper improved survival and physical traits in mice carrying the crinkled mutation, suggesting copper's role in modulating gene expression.