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

Neil Morgan; SK Westaway; Jane Morton; A Gregory; Paul Gissen; S Sonek; H Canaul; J Corvell; N Canham; N Nardocci; G Zorzi; Shanaz Pasha; D Rodriguez; I Desguerre; A Mubaidin; E Bertini; RC Trembath; A Simonati; C Schanen; Colin Johnson; B Levinson; J Woods; B Wilmot; P Kramer; J Gitzchier; Eamonn Maher; SJ Hayflick

doi:10.1038/ng1826

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

Neil Morgan, SK Westaway, Jane Morton, A Gregory, Paul Gissen, S Sonek, H Canaul, J Corvell, N Canham, N Nardocci, G Zorzi, Shanaz Pasha, D Rodriguez, I Desguerre, A Mubaidin, E Bertini, RC Trembath, A Simonati, C Schanen, Colin JohnsonB Levinson, J Woods, B Wilmot, P Kramer, J Gitzchier, Eamonn Maher, SJ Hayflick

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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 A2, in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis.

Original language	English
Pages (from-to)	752-754
Number of pages	3
Journal	Nature Genetics
Volume	38
Issue number	7
DOIs	https://doi.org/10.1038/ng1826
Publication status	Published - 18 Jun 2006

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Morgan, N., Westaway, SK., Morton, J., Gregory, A., Gissen, P., Sonek, S., Canaul, H., Corvell, J., Canham, N., Nardocci, N., Zorzi, G., Pasha, S., Rodriguez, D., Desguerre, I., Mubaidin, A., Bertini, E., Trembath, RC., Simonati, A., Schanen, C., ... Hayflick, SJ. (2006). PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nature Genetics, 38(7), 752-754. https://doi.org/10.1038/ng1826

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title = "PLA2G6, encoding a phospholipase A2, 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 A2, in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis.",

author = "Neil Morgan and SK Westaway and Jane Morton and A Gregory and Paul Gissen and S Sonek and H Canaul and J Corvell and N Canham and N Nardocci and G Zorzi and Shanaz Pasha and D Rodriguez and I Desguerre and A Mubaidin and E Bertini and RC Trembath and A Simonati and C Schanen and Colin Johnson and B Levinson and J Woods and B Wilmot and P Kramer and J Gitzchier and Eamonn Maher and SJ Hayflick",

year = "2006",

month = jun,

day = "18",

doi = "10.1038/ng1826",

language = "English",

volume = "38",

pages = "752--754",

journal = "Nature Genetics",

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Morgan, N, Westaway, SK, Morton, J, Gregory, A, Gissen, P, Sonek, S, Canaul, H, Corvell, J, Canham, N, Nardocci, N, Zorzi, G, Pasha, S, Rodriguez, D, Desguerre, I, Mubaidin, A, Bertini, E, Trembath, RC, Simonati, A, Schanen, C, Johnson, C, Levinson, B, Woods, J, Wilmot, B, Kramer, P, Gitzchier, J, Maher, E & Hayflick, SJ 2006, 'PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron', Nature Genetics, vol. 38, no. 7, pp. 752-754. https://doi.org/10.1038/ng1826

TY - JOUR

T1 - PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

AU - Morgan, Neil

AU - Westaway, SK

AU - Morton, Jane

AU - Gregory, A

AU - Gissen, Paul

AU - Sonek, S

AU - Canaul, H

AU - Corvell, J

AU - Canham, N

AU - Nardocci, N

AU - Zorzi, G

AU - Pasha, Shanaz

AU - Rodriguez, D

AU - Desguerre, I

AU - Mubaidin, A

AU - Bertini, E

AU - Trembath, RC

AU - Simonati, A

AU - Schanen, C

AU - Johnson, Colin

AU - Levinson, B

AU - Woods, J

AU - Wilmot, B

AU - Kramer, P

AU - Gitzchier, J

AU - Maher, Eamonn

AU - Hayflick, SJ

PY - 2006/6/18

Y1 - 2006/6/18

N2 - 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.

AB - 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.

U2 - 10.1038/ng1826

DO - 10.1038/ng1826

M3 - Article

C2 - 16783378

SN - 1546-1718

VL - 38

SP - 752

EP - 754

JO - Nature Genetics

JF - Nature Genetics

IS - 7

ER -

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

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