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Thompson, M. D., X. Li, M. Spencer-Manzon, D. M. Andrade, Y. Murakami, T. Kinoshita and T. Carpenter. 2023. Excluding digenic inheritance of PGAP2 and PGAP3 for Mabry syndrome (OMIM 239300) patient: phenotypic spectrum associated with mutations of PGAP2 in hyperphosphatasia with mental retardation syndrome-3 (HPMRS3). Genes, 14(2), 359.
Ben Ayed, I., O. Jallouli, Y. Murakami, A. Souissi, S. Mallouli, A. Bouzid, F. Kamoun, I. Elloumi, F. Frikha, A. Tlili, S. Weckhuysen, T. Kinoshita, C. Charfi Triki and S. Masmoudi. 2023. Functional analysis of p.Arg507Trp variant of PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region. Front. Neurol., 14:1092887.
Kobayashi, A., T. Hirata, T. Shimazaki, Y. Munesue, K. Aoshima, T. Kimura, J. Nio-Kobayashi, R. Hasebe, A. Takeuchi, Y. Matsuura, S. Kusumi, D. Koga, Y. Iwasaki, T. Kinoshita, S. Mohri and T. Kitamoto. 2023. A point mutation in GPI-attachment signal peptide accelerates the development of prion disease. Acta Neuropathol., 145(5):637-650.
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Murakami, Y., S. Umeshita1, K. Imanishi1, Y. Yoshioka, A. Ninomiya, T. Sunabori, S. Likhite, M. Koike, K. C. Meyer, and T. Kinoshita. 2023. AAV-based gene therapy ameliorated central nervous system specific GPI defect in mouse models. J. Mol. Therapy- Methods Clin. Dev.,in press
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