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?

<p dir="ltr">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-ons...

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محفوظ في:
التفاصيل البيبلوغرافية
المؤلف الرئيسي: Satoshi Sakaue (19725322) (author)
مؤلفون آخرون: Takashi Kasai (718121) (author), Ikuko Mizuta (6578597) (author), Masaya Suematsu (12006506) (author), Shinya Osone (769429) (author), Yumiko Azuma (318823) (author), Toshihiko Imamura (769424) (author), Takahiko Tokuda (105837) (author), Hitoshi Kanno (5439200) (author), Omar M. A. El-Agnaf (8809331) (author), Masafumi Morimoto (4633492) (author), Masanori Nakagawa (105840) (author), Hajime Hosoi (259258) (author), Toshiki Mizuno (105838) (author)
منشور في: 2017
الموضوعات:
Biological sciences
Genetics
Biomedical and clinical sciences
Neurosciences
Glycolytic enzyme
X-linked recessive hereditary chronic hemolytic anemia
Myopathy
Neurological disorders
Early-onset parkinsonism
Levodopa treatment
Parkinson's disease (PD)
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