Pagnamenta AT, Murakami Y, Anzilotti C, Titheradge H, Oates AJ, Morton J; DDD Study, Kinoshita T, Kini U, Taylor JC. 2018 A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly. Hum Mutat. Jun;39(6):822-826.
Mogami Y, Suzuki Y, Murakami Y, Ikeda T, Kimura S, Yanagihara K, Okamoto N, Kinoshita T. 2018 Early infancy-onset stimulation-induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency. Epileptic Disord. Feb 1;20(1):42-50.
Hirata T, Mishra SK, Nakamura S, Saito K, Motooka D, Takada Y, Kanzawa N, Murakami Y, Maeda Y, Fujita M, Yamaguchi Y, Kinoshita T. 2018 Identification of a Golgi GPI-N-acetylgalactosamine transferase with tandem transmembrane regions in the catalytic domain. Nat Commun. Jan 26;9(1):405.
Liu YS, Guo XY, Hirata T, Rong Y, Motooka D, Kitajima T, Murakami Y, Gao XD, Nakamura S, Kinoshita T, Fujita M. 2018 N-Glycan-dependent protein folding and endoplasmic reticulum retention regulate GPI-anchor processing.J Cell Biol. Feb 5;217(2):585-599.
Kinoshita, T. 2018. Congenital defects in the expression of the glycosylphosphatidylinositol-anchored complement regulatory proteins CD59 and decay-accelerating factor. Semin. Hematol., 55:136-140.
Yoko-o, T., M. Umemura, A. Komatsuzaki, K. Ikeda, D. Ichikawa, K. Takase, N. Kanzawa, K. Saito, T. Kinoshita, R. Taguchi and Y. Jigami. 2018. Lipid moiety of glycosylphosphatidylinositol-anchored proteins contributes to the determination of their final destination in yeast. Genes Cells, 23:880-892.
Kawamoto, M., Y. Murakami, T. Kinoshita and N. Kohara. 2018. Recurrent aseptic meningitis with PIGT mutations: a novel pathogenesis of recurrent meningitis successfully treated by eculizumab. BMJ Case Rep., pii: bcr-2018-225910.
Nguyen, T. T. M., Y. Murakami, K. M. Wigby, N. V. Baratang, A. St-Denis, J. A. Rosenfeld, S. C. Laniewski, J. Jones, A. D. Iglesias, GeneDx analyst, M. Jones, D. Masser-Frye, R.n Taft, M. Thompson, F. Le Deist, T. Kinoshita and P. M. Campeau. Mutations in PIGS encoding a GPI transamidase protein cause a neurological syndrome ranging from fetal akinesia to epileptic encephalopathy. Am. J. Hum. Genet., 103:602-611.
Yamamoto-Hino, M., E. Katsumata, E. Suzuki, Y. Maeda, T. Kinoshita and S. Goto. 2018. Nuclear envelope localization of PIG-B is essential for GPI anchor synthesis in Drosophila. J. Cell Sci., 131: pii: jcs218024.
