Publication: PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron
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Date
2006
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
Journal Title
Journal ISSN
Volume Title
Publisher
Nature Publishing Group
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.
Description
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.