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http://hdl.handle.net/11452/21406| Title: | PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron |
| 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 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. Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı. Cangül, Hakan 8911611600 |
| Keywords: | Genetics & heredity Involvement Hallervorden-spatz-syndrome Infantile neuroaxonal dystrophy |
| Issue Date: | 2006 |
| Publisher: | Nature Publishing Group |
| 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. |
| 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. |
| URI: | https://doi.org/10.1038/ng1826 1061-4036 http://hdl.handle.net/11452/21406 |
| ISSN: | 1061-4036 |
| Appears in Collections: | Scopus Web of Science |
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