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Nat Genet. 2006 Jul;38(7):752-4. Epub 2006 Jun 18.

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

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  • 1Section of Medical & Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT, UK.

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  • Nat Genet. 2006 Aug;38(8):957.

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 A2, 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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