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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2001-11-13
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0028-3878
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
13
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pubmed:volume |
57
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1714-7
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11706120-Adult,
pubmed-meshheading:11706120-Aged,
pubmed-meshheading:11706120-Amino Acid Sequence,
pubmed-meshheading:11706120-Base Sequence,
pubmed-meshheading:11706120-Cysteine,
pubmed-meshheading:11706120-DNA Mutational Analysis,
pubmed-meshheading:11706120-Dementia, Multi-Infarct,
pubmed-meshheading:11706120-Family Health,
pubmed-meshheading:11706120-Female,
pubmed-meshheading:11706120-Humans,
pubmed-meshheading:11706120-Male,
pubmed-meshheading:11706120-Middle Aged,
pubmed-meshheading:11706120-Molecular Sequence Data,
pubmed-meshheading:11706120-Pedigree,
pubmed-meshheading:11706120-Proto-Oncogene Proteins,
pubmed-meshheading:11706120-Receptors, Cell Surface,
pubmed-meshheading:11706120-Receptors, Notch,
pubmed-meshheading:11706120-Repetitive Sequences, Nucleic Acid
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pubmed:year |
2001
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pubmed:articleTitle |
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL.
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pubmed:affiliation |
Department of Neurology, Klinikum Grosshadern, Ludwig-Maximilians-Universität, Munich, Germany. mdichgans@nefo.med.uni-muenchen.de
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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