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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL.

Mutations in NOTCH3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary angiopathy causing stroke and vascular dementia. All CADASIL mutations identified so far result in the loss or gain of one cysteine residue within epidermal growth factor (EGF)-like repeat domains. Here an in-frame deletion causing a loss of three cysteine residues within EGF repeat 6 is reported. These data are consistent with the hypothesis that the change toward an odd number of cysteine residues within a given EGF repeat and therefore an unpaired, reactive cysteine residue is the common and critical molecular event in CADASIL.[1]

References

  1. NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL. Dichgans, M., Herzog, J., Gasser, T. Neurology (2001) [Pubmed]
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