Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?

Phosphoglycerate kinase 1 (PGK-1) is a glycolytic enzyme encoded by PGK-1, which maps to the X chromosome. PGK-1 deficiency causes X-linked recessive hereditary chronic hemolytic anemia, myopathy, and neurological disorders due to insufficient ATP regeneration. Early-onset parkinsonism has occasiona...

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Detaylı Bibliyografya
Yayımlandı:NPJ Parkinsons Dis
Asıl Yazarlar: Sakaue, Satoshi, Kasai, Takashi, Mizuta, Ikuko, Suematsu, Masaya, Osone, Shinya, Azuma, Yumiko, Imamura, Toshihiko, Tokuda, Takahiko, Kanno, Hitoshi, El-Agnaf, Omar M. A., Morimoto, Masafumi, Nakagawa, Masanori, Hosoi, Hajime, Mizuno, Toshiki
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group UK 2017
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5459803/
https://ncbi.nlm.nih.gov/pubmed/28649613
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41531-017-0014-4
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