Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5; OMIM300203) have recently been identified in patients with infantile spasms and mental retardation that had previously been diagnosed with atypical Rett Syndrome or X-linked Infantile Spasms. Although CDKL5 appears to play a critical role for proper brain function, it remains largely uncharacterized. The general aim of this project is to initiate the comprehension of the cellular and molecular defects caused by mutations in CDKL5.
Molecular and functional characterization of CDKL5, a novel X-linked kinase, mainly involved in female mental retardation
KILSTRUP-NIELSEN, CHARLOTTE
2007-01-01
Abstract
Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5; OMIM300203) have recently been identified in patients with infantile spasms and mental retardation that had previously been diagnosed with atypical Rett Syndrome or X-linked Infantile Spasms. Although CDKL5 appears to play a critical role for proper brain function, it remains largely uncharacterized. The general aim of this project is to initiate the comprehension of the cellular and molecular defects caused by mutations in CDKL5.
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