期刊
NATURE GENETICS
卷 38, 期 7, 页码 752-754出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1826
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资金
- NCRR NIH HHS [M01 RR000334] Funding Source: Medline
- NEI NIH HHS [R01 EY012353, R01 EY012353-07] Funding Source: Medline
- NHGRI NIH HHS [N01HG65403] Funding Source: Medline
- NIA NIH HHS [P30 AG008017] Funding Source: Medline
- NICHD NIH HHS [R01 HD050832-01A1, R01 HD050832] Funding Source: Medline
- Telethon [GTF04002] Funding Source: Medline
- Wellcome Trust Funding Source: Medline
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.
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