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The Journal of Biological Chemistry|May 16, 2025
ARV1 is a component of the enzyme initiating glycosylphosphatidylinositol biosynthesisTianTian Lu, Saori Umeshita, Kae Imanishi, et al.
Molecules (Basel, Switzerland)|September 28, 2021
Functional Analysis of the GPI Transamidase Complex by Screening for Amino Acid Mutations in Each SubunitSi-Si Liu, Fei Jin, Yi-Shi Liu, et al.
American Journal of Human Genetics|April 9, 2013
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndromePeter M Krawitz, Yoshiko Murakami, Angelika Rieß, et al.
Epilepsia|January 15, 2014
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levelsKazuyuki Nakamura, Hitoshi Osaka, Yoshiko Murakami, et al.
Journal of Neurosurgery. Case Lessons|July 20, 2022
Pilocytic astrocytoma of the optic nerve with intracystic hemorrhage in an adult: illustrative caseShunichiro Kuramitsu, Noriyuki Suzaki, Tatsuo Takahashi, et al.
Nature Communications|January 28, 2018
Identification of a Golgi GPI-N-acetylgalactosamine transferase with tandem transmembrane regions in the catalytic domainTetsuya Hirata, Sushil K Mishra, Shota Nakamura, et al.
Nature Communications|June 6, 2022
Establishment of mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapyRyoko Kuwayama, Keiichiro Suzuki, Jun Nakamura, et al.
Plos Genetics|May 3, 2014
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathyYoshiko Murakami, Hasan Tawamie, Yusuke Maeda, et al.
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