Kawasaki Medical School · Faculty of Medicine / Graduate School of Medicine

Research keywordsmedical genetics・lysosomal storage disorders・rare disease diagnostics・Fabry disease・cardiomyopathy genetics・spastic paraplegia

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• Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure.
• Mucopolysaccharidosis-Plus Syndrome.
• Starvation-induced autophagy via calcium-dependent TFEB dephosphorylation is suppressed by Shigyakusan.
• Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).

• 小胞輸送障害により生じる新規疾患の病態解明と、幅広いリソソーム病治療法開発への応用
• ライソゾーム病の病態を修飾するエクソソームに関する研究
• LSDの病態のオーバーラップを明らかにするためのリピドミクス研究
• リソソームのターンオーバーと数に関する制御機構

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