Kyushu University Academic Staff Educational and Research Activities Database
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Yasunari Sakai Last modified date:2019.07.25



Administration Post
Other


E-Mail
Homepage
https://pediatr.kyushu-u.ac.jp/
Phone
092-642-5421
Fax
092-642-5435
Academic Degree
M.D., Ph.D.
Field of Specialization
Pediatric Neurology
Outline Activities
1. Research: Molecular mechanism of autism and neuro-developmental disorders.
2. Education: Scientific training for graduate and undergraduate students
3. Clinical and social activity: Child neurology & General emergency service
Research
Research Interests
  • Common molecular pathogenesis between autism and epileptic encephalopathy
    keyword : Autism spectrum disorder, Interactome, SHANK3, Molecular Signals
    2011.04The purpose of this study is to establish the therapeutic models of the target-specific gene corrections with non-viral procedures. Chemically-modified single-stranded oligonucleotides have been shown to activate the endogenous reactions of homologous recombination in the recipient cells, resulting in the site-specific corrections of the mutated genes. We have attempted to develop more efficient systems with various nano-particles and a novel transfection instrument, gas-plasma generator..
  • Molecular basis for epileptic encephalopathy in childhood
    keyword : Epileptic encephalopathy, Genetic background, Molecular network
    2011.04The purpose of this study is to establish the therapeutic models of the target-specific gene corrections with non-viral procedures. Chemically-modified single-stranded oligonucleotides have been shown to activate the endogenous reactions of homologous recombination in the recipient cells, resulting in the site-specific corrections of the mutated genes. We have attempted to develop more efficient systems with various nano-particles and a novel transfection instrument, gas-plasma generator..
Academic Activities
Papers
1. Matsushita Y†, Sakai Y†*, Shimmura M, Shigeto H, Nishio M, Akamine S, Sanefuji M, Ishizaki Y, Torisu H, Nakabeppu Y, Suzuki A, Takada H, Hara T, Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice, Sci Rep, 6, 22991, 2016.03.
2. Ohkubo K†, Sakai Y†, Inoue H, Akamine S, Ishizaki Y, Matsushita Y, Sanefuji M, Torisu H, Ihara K, Sardiello M, Hara T, Moyamoya disease susceptibility gene RNF213 controls angiogenesis under PI3K-AKT and PKR pathways in endothelial cells, Sci Rep, 5, 13191, 2015.09.
3. Sakai Y, Fukai R, Matsushita Y, Miyake N, Saitsu H, Akamine S, Torio M, Sasazuki M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Matsumoto N, Hara T, De novo truncating mutation of TRIM8 causes an atypical form of epileptic encephalopathy, Ann Hum Genet, in press, 2016.07.
4. Sakai Y, Shaw CA, Dawson BC, Dugas DV, Al-Mohtaseb Z, Hill DE, Zoghbi HY, Protein interactome reveals converging molecular pathways among autism disorders, Science Transl Med, PMID: 21653829, 3, 86ra49, http://stm.sciencemag.org/content/3/86.cover-expansion, 2011.06, [URL].
Membership in Academic Society
  • The Japanese Society of Child Neurology
  • The Japan Society of Human Genetics
  • The Japan Epilepsy Society
  • Japan Pediatric Society
  • The American Society of Human Genetics
  • Society for Neuroscience
  • The Molecular Biology Society of Japan