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

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

Early-onset Parkinson’s disease: a new genetic link Mutations in the gene encoding phosphoglycerate kinase 1 (PGK-1) may confer susceptibility to early-onset Parkinson’s disease (PD). PGK-1 is a crucial protein for the breakdown of sugar in the body and mutations that cause PGK-1 deficiency lead to...

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Détails bibliographiques
Auteurs principaux: Satoshi Sakaue, Takashi Kasai, Ikuko Mizuta, Masaya Suematsu, Shinya Osone, Yumiko Azuma, Toshihiko Imamura, Takahiko Tokuda, Hitoshi Kanno, Omar M. A. El-Agnaf, Masafumi Morimoto, Masanori Nakagawa, Hajime Hosoi, Toshiki Mizuno
Format: article
Langue:EN
Publié: Nature Portfolio 2017
Sujets:
Neurology. Diseases of the nervous system
RC346-429
Accès en ligne:https://doaj.org/article/15d3dd6eba764c9cb76b11aebe524a0b
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