A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
By Bing Zhou, S. Westaway, B. Levinson, Monique A. Johnson, J. Gitschier, S. Hayflick. Nature Genetics, 2001
810 citations recorded by the source corpus.
Subfields: Molecular Biology, Neurology
View Paper: https://www.semanticscholar.org/paper/9e77cb8837d0370f4fcf7e5865a05def1c4b9d57
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Citations in the corpus
- Iron, brain ageing and neurodegenerative disorders (2004, background): “fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=80025">PANK2 ) have been shown to be the main genetic defects associated with neurodegeneration with brain iron accumulation (NBIA — formerly known as Hallervorden–Spatz syndrome”
- Oxidative stress and neurodegeneration: where are we now? (2006, background): “Its absence causes cysteine accumulation, and it has been hypothesized that a pro-oxidant mixture of iron and cysteine contributes to neurodegeneration (Zhou et al. 2001).”
- Oxidative stress and nitration in neurodegeneration: cause, effect, or association? (2003, background): “Abnormal iron accumulation and formation of α-synuclein inclusions that prominently feature tyrosine-nitrated α-synuclein are features of iron accumulation type 1 disease (76).”