Mutations within a Furin Consensus Sequence Block Proteolytic Release of Ectodysplasin-A and cause X-Linked Hypohidrotic Ectodermal Dysplasia

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a heritable disorder of the ED-1 gene disrupting the morphogenesis of ectodermal structures. The ED-1 gene product, ectodysplasin-A (EDA), is a tumor necrosis factor (TNF) family member and is synthesized as a membrane-anchored precursor protein...

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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 2001-06, Vol.98 (13), p.7218-7223
Hauptverfasser:	Chen, Yanwen, Molloy, Sean S., Thomas, Laurel, Gambee, Jay, Bächinger, Hans Peter, Ferguson, Betsy, Zonana, Jonathan, Thomas, Gary, Morris, Nicholas P.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Amino Acid Substitution Antibodies Binding Sites Biochemistry Biological Sciences Biosynthesis Cell lines Consensus Sequence Data processing Ectodermal Dysplasia - genetics ectodysplasin-A Ectodysplasins ED-1 gene Furin Genes Genetic mutation Humans Infections Kinetics Membrane Proteins - chemistry Membrane Proteins - genetics Membrane Proteins - metabolism Molecular Sequence Data Molecules Mutagenesis, Site-Directed Mutation Physical growth Proteins Receptors Recombinant Proteins - chemistry Recombinant Proteins - metabolism Subtilisins - metabolism Tumor Cells, Cultured Viruses X-linked hypohidrotic ectodermal dysplasia
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