@article{e755e838224c47b7a1708df22477f957,
title = "PLA2G6, encoding a phospholipase A 2, is mutated in neurodegenerative disorders with high brain iron",
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.",
author = "Morgan, {Neil V.} and Westaway, {Shawn K.} and Morton, {Jenny E.V.} and Allison Gregory and Paul Gissen and Scott Sonek and Hakan Cangul and Jason Coryell and Natalie Canham and Nardo Nardocci and Giovanna Zorzi and Shanaz Pasha and Diana Rodriguez and Isabelle Desguerre and Amar Mubaidin and Enrico Bertini and Trembath, {Richard C.} and Alessandro Simonati and Carolyn Schanen and Johnson, {Colin A.} and Barbara Levinson and Woods, {C. Geoffrey} and Beth Wilmot and Patricia Kramer and Jane Gitschier and Maher, {Eamonn R.} and Hayflick, {Susan J.}",
note = "Funding Information: We are grateful to the many contributing individuals, families and physicians. This work was funded by the Wellcome Trust and WellChild (E.M.), by the US National Eye Institute, L{\textquoteright}Association Internationale De Dystrophie Neuro Axonale Infantile, the US National Institute of Child Health and Human Development, and the R.J. Murdock Foundation (S.J.H.) and by the NBIA Disorders Association and NORD (E.M., S.J.H.). Additional support was provided by the Paolo Zorzi Foundation, the Italian National Ministry of Health and the Oregon Alzheimer Disease Center Grant (P30 AG008017). Genotyping services were provided by the CIDR through a federal contract from the US NIH to The Johns Hopkins University, contract number N01-HG-65403 and by the OHSU GCRC (grant M01 RR000334). We thank H. Consencgo for technical assistance. J.G. is an investigator with the Howard Hughes Medical Institute. Samples were obtained from the {"}Cell line and DNA bank from patients affected by genetic diseases{"} collection at the Giannina Gaslini Institute (http://www.gaslini.org/ labdppm.htm) supported by Italian Telethon grants (project #GTF04002).",
year = "2006",
month = jul,
doi = "10.1038/ng1826",
language = "English (US)",
volume = "38",
pages = "752--754",
journal = "Nature genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "7",
}