Article
Neuroacanthocytosis associated with a defect of the 4.1R membrane protein.
BMC neurology - 13 Feb 2007
Orlacchio Antonio, Calabresi Paolo, Rum Adriana, Tarzia Anna, Salvati Anna Maria, Kawarai Toshitaka, Stefani Alessandro, Pisani Antonio, Bernardi Giorgio, Cianciulli Paolo, Caprari Patrizia
Abstract excerpt
BACKGROUND: Neuroacanthocytosis (NA) denotes a heterogeneous group of diseases that are characterized by nervous system abnormalities in association with acanthocytosis in the patients' blood. The 4.1R protein of the erythrocyte membrane is critical for the membrane-associated cytoskeleton structure and in central neurons it regulates the stabilization of AMPA receptors on the neuronal surface at the postsynaptic...
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