Browsing by Author "Giovanna, Giovanna"

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    PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron
    (Nature Publishing Group, 2006) Morgan, Neil V.; Westaway, Shawn K; Morton, Jenny E. V.; Gregory, Allison; Gissen, Paul; Sonek, Scott; Coryell, Jason; Canham, Natalie; Nardocci, Nardo; Giovanna, Giovanna; Shanaz, Shanaz; Rodriguez, Diana; Desguerre, Isabelle; Mubaidin, Amar; Bertin, Enrico; Trembath, Richard C.; Simonati, Alessandro; Schanen, Carolyn; Johnson, Colin A.; Levinson, Barbara; Woods, C. Geoffrey; Wilmot, Beth; Kramer, Patricia; Gitschier, Jane; Maher, Eamonn R.; Hayflick, Susan J.; Cangül, Hakan; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 8911611600
    Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. We mapped a locus for infantile neuroaxonal dystrophy ( INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A(2), in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis.