PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron

Morgan, N. V.; Westaway, S. K.; Morton, J. E.; Gregory, A.; Gissen, P.; Sonek, S.; Cangul, H.; Coryell, J.; Canham, N.; Nardocci, N.; Zorzi, G.; Pasha, S.; Rodriguez, D.; Desguerre, I.; Mubaidin, A.; Bertini, E.; Trembath, R. C.; Simonati, Alessandro; Schanen, C.; Johnson, C. A.; Levinson, B.; Woods, C. G.; Wilmot, B.; Kramer, P.; Gitschier, J.; Maher, R.; Hayflick, S. J.

doi:10.1038/ng1826

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.

Titolo:	PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron
Autori:	Morgan N. V. Westaway S. K. Morton J. E. Gregory A. Gissen P. Sonek S. Cangul H. Coryell J. Canham N. Nardocci N. Zorzi G. Pasha S. Rodriguez D. Desguerre I. Mubaidin A. Bertini E. Trembath R. C. SIMONATI, Alessandro Schanen C. Johnson C. A. Levinson B. Woods C. G. Wilmot B. Kramer P. Gitschier J. Maher R. Hayflick S. J. mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	2006
Rivista:	NATURE GENETICS
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.
Handle:	http://hdl.handle.net/11562/31974
Appare nelle tipologie:	01.01 Articolo in Rivista

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