Yayın: PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron
Dosyalar
Tarih
Kurum Yazarları
Cangül, Hakan
Yazarlar
Morgan, Neil V.
Westaway, Shawn K
Morton, Jenny E. V.
Gregory, Allison
Gissen, Paul
Sonek, Scott
Coryell, Jason
Canham, Natalie
Nardocci, Nardo
Giovanna, Giovanna
Danışman
Dil
Türü
Yayıncı:
Nature Publishing Group
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Özet
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.
Açıklama
Kaynak:
Anahtar Kelimeler:
Konusu
Genetics & heredity, Involvement, Hallervorden-spatz-syndrome, Infantile neuroaxonal dystrophy
Alıntı
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.