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Article
Open AccessSystematic exploration of the ciliary protein landscape by large-scale affinity proteomics
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Article
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism
Deficiencies of different proteins involved in copper metabolism have been reported to cause human diseases. Well-known syndromes, for example, are Menkes and Wilson diseases. Here we report a patient presenti...
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Article
Menkes disease: Underlying genetic defect and new diagnostic possibilities
Cloning of the gene defective in the X-linked neurodegenerative disorder Menkes disease led to a cascade of new findings. Besides giving a better understanding of the intracellular copper homeostasis, these fi...
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Article
Investigation of the copper binding sites in the Menkes disease protein, ATP7A
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Article
Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis
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Chapter and Conference Paper
Tn5301, A Lactococcal Transposon Encoding Genes for Nisin Biosynthesis
The genes for nisin biosynthesis are encoded by the conjugative transposon Tn5301. The element is 70kb in size and is located in the chromosome of the nisin-producing strain FI5876. Sequence analysis demonstrated...
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Article
Prenatal and postnatal diagnosis of menkes disease, an inherited disorder of copper metabolism
105 patients with Menkes disease have been diagnosed from64Cu-uptake studies in fibroblasts. These results are presented together with chase results following removal of64Cu from the medium for 16 Menkes patients...
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Article
Menkes' disease: Clinical, therapeutic and biochemical studies
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Article
Menkes' X-linked disease: Prenatal diagnosis and carrier detection
Increased64Cu uptake into cultured cells is a biochemical marker for mutant cells in Menkes' disease (McKusick 30940). Using this marker selective prenatal diagnosis has been carried out in more than 80 at-risk p...