Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG81
Selenoprotein I is indispensable for ether lipid homeostasis and proper myelination.
Nunes LGA et al.
The Journal of Biological Chemistry, 2024
A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81.
Sarma AS et al.
The Journal of Gene Medicine, 2023
PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing.
Cikes D et al.
Nature Metabolism, 2023
Selenoprotein I (selenoi) as a critical enzyme in the central nervous system.
Nunes LGA et al.
Archives of Biochemistry and Biophysics, 2022
Pathogenic Variants in Selenoproteins and Selenocysteine Biosynthesis Machinery.
Santesmasses D et al.
International Journal of Molecular Sciences, 2021
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum.
Kaiyrzhanov R et al.
Brain : a Journal of Neurology, 2021
EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans.
Horibata Y et al.
Journal of Lipid Research, 2018
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Ahmed MY et al.
Brain : a Journal of Neurology, 2017
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