Article
Paxillin binds schwannomin and regulates its density-dependent localization and effect on cell morphology.
Nature genetics - 1 Aug 2002
Fernandez-Valle Cristina, Tang Yong, Ricard Jerome, Rodenas-Ruano Alma, Taylor Anna, Hackler Elizabeth, Biggerstaff John, Iacovelli Jared
Abstract excerpt
Neurofibromatosis type 2 is an autosomal dominant disorder characterized by tumors, predominantly schwannomas, in the nervous system. It is caused by mutations in the gene NF2, encoding the growth regulator schwannomin (also known as merlin). Mutations occur throughout the 17-exon gene, with most resulting in protein truncation and undetectable amounts of schwannomin protein. Pathogenic mutations that result in...
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