Associated Papers
A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures.
Sadamitsu K et al.
Journal of Human Genetics, 2024
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J et al.
Brain : a Journal of Neurology, 2024
38456468 (PubMed )
Supplement: awae056_supplementary_data.zip › brain-2023-02061-File008.pdf
Structure and Function of the Glycosylphosphatidylinositol Transamidase, a Transmembrane Complex Catalyzing GPI Anchoring of Proteins.
Li D
Sub-cellular Biochemistry, 2024
Structure of human glycosylphosphatidylinositol transamidase.
Zhang H et al.
Nature Structural & Molecular Biology, 2022
Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis.
Chen X et al.
Human Genetics, 2021
Select a paper to view details