Publication: PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron
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Authors
Cangül, Hakan
Authors
Morgan, Neil V.
Westaway, Shawn K
Morton, Jenny E. V.
Gregory, Allison
Gissen, Paul
Sonek, Scott
Coryell, Jason
Canham, Natalie
Nardocci, Nardo
Giovanna, Giovanna
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Nature Publishing Group
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Abstract
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.
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Keywords
Genetics & heredity, Involvement, Hallervorden-spatz-syndrome, Infantile neuroaxonal dystrophy
Citation
Morgan, N. V. vd. (2006). ''PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron''. Nature Genetics, 38(7), 752-754.