Article
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Nature genetics - 1 Jul 2006
Morgan Neil V, Westaway Shawn K, Morton Jenny E V, Gregory Allison, Gissen Paul, Sonek Scott, Cangul Hakan, Coryell Jason, Canham Natalie, Nardocci Nardo, Zorzi Giovanna, Pasha Shanaz, Rodriguez Diana, Desguerre Isabelle, Mubaidin Amar, Bertini 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
Abstract excerpt
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 A2, in...
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