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名古屋市立大学 > 医学研究科・医学部 > 専攻・講座案内 > 神経発達症遺伝学 > トップページ > 業績 > 原著主要論文(山川グループ)

原著主要論文(山川責任著者/最終著者論文)Publication

(Yamakawa Kに下線、責任著者corresponding author(s)に*を付した)
  1. NEWSuzuki T*, Hattori S, Mizukami H, Nakajima R, Hibi Y, Kato S, Matsuzaki M, Miyakawa T, Ikebe R, Yamakawa K.
    Inversed effects of Nav1.2 deficiency at medial prefrontal cortex and ventral tegmental area for prepulse inhibition in acoustic startle response.
    Mol. Neurobiol. 61(2):622-634.(2024), Epub 2023 Aug 31.
    PMID: 37650965 doi: 10.1007/s12035-023-03610-6
  2. Yamagata T, Ogiwara I, Tatsukawa T, Suzuki T, Otsuka Y, Imaeda N, Mazaki E, Inoue I, Tokonami N, Hibi Y, Itohara S, Yamakawa K*.
    Scn1a-GFP transgenic mouse revealed Nav1.1 expression in neocortical pyramidal1 tract projection neurons.
    eLife. 12:e87495. (2023)
    PMID: 37219072 doi: 10.7554/eLife.87495.
  3. Suzuki T, Tatsukawa T, Sudo G, Delandre C, Pai JY, Miyamoto H, Raveau M, Shimohata A, Ohmori I, Hamano S, Haginoya K, Uematsu M, Takahashi Y, Morimoto M, Fujimoto S, Osaka H, Oguni H, Osawa M, Ishii A, Hirose S, Kaneko S, Inoue Y, Moore WA, Yamakawa K*
    CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate
    Sci. Rep. 12:6505. (2022)
    PMID: 35581205 doi: 10.1038/s41598-022-10715-w
  4. Suzuki T, Koike Y, Ashikawa K, Otomo N, Takahashi A, Aoi T, Kamatani N, Nakamura Y, Kubo M, Kamatani Y, Momozawa Y, Terao C*, Yamakawa K*.
    Genome-wide association study of epilepsy in Japanese population identified an associated region at chromosome 12q24.
    Epilepsia, 62(6):1391-1400. (2021)
    doi: 10.1111/epi.16911 PMID: 33913524
  5. Suzuki T, Inoue I, Yamakawa K*.
    Epilepsy protein Efhc1/myoclonin1 is expressed in cells with motile cilia but not in neurons or mitotic apparatuses in brain.
    Sci. Rep. 10: 22076.(2020)
    PMID: 33328576 dio: 10.1038/s41598-020-79202-4
  6. Arima-Yoshida F, Raveau M, Shimohata A, Amano K, Fukushima A, Watanave M, Kobayashi A, Hattori A, Usui M, Sago H, Mataga N, Miyakawa T, Yamakawa K*, Manabe T*.
    Impairment of spatial memory accuracy improved by Cbr1 copy number resumption and GABAB receptor-dependent enhancement of synaptic inhibition in Down syndrome model mice.
    Sci Rep 10;14187.(2020)
    PMID: 32843708 doi: 10.1038/s41598-020-71085-9
  7. Yamagata T, Raveau M, Kobayashi K, Miyamoto H, Tatsukawa T, Ogiwara I, Itohara S, Hensch TK, Yamakawa K.*
    CRISPR/dCas9-based Scn1a gene activation in inhibitory neurons ameliorates epileptic and behavioral phenotypes of Dravet syndrome model mice.
    Neurobiol Dis. 104954.(2020)
    PMID: 32445790 DOI:10.1016/j.nbd.2020.104954
  8. Suzuki T, Suzuki T, Raveau M, Miyake N, Sudo G, Tsurusaki Y, Watanabe T, Sugaya Y, Tatsukawa T, Mazaki E, Shimohata A, Kushima I, Aleksic B, Shiino T, Toyota T, Iwayama Y, Nakaoka K, Ohmori I, Sasaki A, Watanabe K, Hirose S, Kaneko S, Inoue Y, Yoshikawa T, Ozaki N, Kano M, Shimoji T, Matsumoto N*, Yamakawa K*.
    A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.
    Ann Clin Transl Neurol. 7(7):1117-1131. (2020)
    PMID: 32530565 doi: 10.1002/acn3.51093
  9. Miyamoto H, Tatsukawa T, Shimohata A, Yamagata T, Suzuki T, Amano K, Mazaki E, Raveau M, Ogiwara I, Oba-Asaka A, Hensch TK, Itohara S, Sakimura K, Kobayashi K, Kobayashi K, Yamakawa K*.
    Impaired Cortico-Striatal Excitatory Transmission Triggers Epilepsy.
    Nat Commun 10:1917 (2019)
    10.1038/s41467-019-09954-9.
  10. Tatsukawa T, Raveau M, Ogiwara I, Hattori S, Miyamoto H, Mazaki E, Itohara S, Miyakawa T, Montal M, Yamakawa K*.
    Scn2a haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity.
    Mol Autism 10:15 (2019)
    10.1186/s13229-019-0265-5.
  11. Ogiwara I, Miyamoto H, Tatsukawa T, Yamagata T, Nakayama T, Atapour N, Miura E, Mazaki E, Ernst SJ, Cao D, Ohtani H, Itohara S, Yanagawa Y, Montal M, Yuzaki M, Inoue Y, Hensch T, Noebels J, Yamakawa K*.
    Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.
    Commun Biol 1, Article number 96 (2018)
    10.1038/s42003-018-0099-2.
  12. Middleton SJ*, Kneller EM, Chen S, Ogiwara I, Montal M, Yamakawa K*, McHugh TJ*.
    Altered hippocampal replay is associated with memory impairment in mice heterozygous for the Scn2a gene.
    Nat Neurosci 21(7):996-1003 (2018)
    10.1038/s41593-018-0163-8.
  13. Bailey JN, de Nijis L, Bai D, Suzuki T, Miyamoto H, Tanaka M, Patterson C, Lin YC, Medina M, Alonso M, Seratossa J, Duron R, Nguyen V, Wight J, Martinez-Juarez I, Ochoa A, Jara-Prado A, Guilhoto L, Molina Y, Yacubian E, Lopez-Ruiz M, Inoue Y, Kaneko S, Hirose S, Osawa M, Oguni H, Fujimoto S, Grisar T, Stern J, Yamakawa K*, Laykaye B*, Delgado-Escueta A*.
    Variant intestinal cell kinase in juvenile myoclonic epilepsy.
    New Eng J Med 378:1018-28 (2018)
    10.1056/NEJMoa1700175.
  14. Raveau M, Polygalov D, Boehringer R, Amano K, Yamakawa K*, McHugh TJ*.
    Alterations of in vivo CA1 network activity in Dp(16)1Yey Down syndrome model mice.
    eLife 7:e31543 (2018)
    10.7554/eLife.31543.
  15. Tatsukawa T, Ogiwara I, Mazaki E, Shimohata A, Yamakawa K*.
    Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells.
    Neurobiol Dis 112:24-34 (2018)
    10.1016/j.nbd.2018.01.009.
  16. Raveau M, Shimohata A, Amano K, Miyamoto H, Yamakawa K*.
    DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures.
    Neurobiol Dis 110:180-191 (2018)
    10.1016/j.nbd.2017.12.003.
  17. Miyamoto H, Shimohata A, Abe M, Abe T, Mazaki M, Amano K, Suzuki T, Tatsukawa T, Itohara S, Sakimura K, Yamakawa K*.
    Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency.
    Hum Mol Genet Dec 15:26(24):4961-4974 (2017)
    10.1093/hmg/ddx379.
  18. Shimohata A, Ishihara K, Hattori S, Miyamoto H, Morishita H, Ornthanalai G, Raveau M, Ebrahim AS, Amano K, Yamada K, Sago H, Akiba S, Mataga N, Murphy NP, Miyakawa T, Yamakawa K*.
    Ts1Cje Down syndrome model mice exhibit environmental stimuli-triggered locomotor hyperactivity and sociability concurrent with increased flux through central dopamine and serotonin metabolism.
    Exp Neurol 293:1-12 (2017)
    10.1016/j.expneurol.2017.03.009.
  19. Raveau M, Nakahari T, Asada S, Ishihara K, Amano K, Shimohata A, Sago H, Yamakawa K*.
    Brain ventriculomegaly in Down syndrome mice is caused by Pcp4 dose-dependent cilia dysfunction.
    Hum Mol Genet 26(5):923-931 (2017)
    10.1093/hmg/ddx007.
  20. Ogiwara I, Iwasato T, Miyamoto H, Iwata R, Yamagata T, Mazaki E, Yanagawa Y, Tamamaki N, Hensch TK, Itohara S, Yamakawa K*
    Nav1.1 haploinsufficiency in excitatory neurons ameliorates sseizure-associated sudden death in a mouse model of Dravet syndrome.
    Hum Mol Genet 22(23): 4784-4804 (2013)
    10.1093/hmg/ddt331.
  21. Ito S, Ogiwara I, Yamada K, Miyamoto H, Hensch T, Osawa M, Yamakawa K*.
    Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome exhibits lowered sociability and learning impairment.
    Neurobiol Dis 49: 29-40 (2013)(Aug. 16, 2012 available online)
    10.1016/j.nbd.2012.08.003.
  22. Ishihara K, Amano K,Takaki E, Shimohata A, Sago H, Epstein CJ, Yamakawa K*.
    Enlarged brain ventricles and impaired neurogenesis in the Ts1Cje and Ts2Cje mouse models of Down syndrome.
    Cereb Cortex 20(5): 1131-1143 (2010)
    10.1093/cercor/bhp176
  23. Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, Montal M, Hashikawa T, Shike T, Fujiwara T, Inoue Y, Kaneda M, Yamakawa K*.
    De novo mutations of voltage-gated sodium channel alpha II gene SCN2A in intractable epilepsies.
    Neurology 73(13): 1046-1053 (2009)
    10.1212/WNL.0b013e3181b9cebc
  24. Ishihara K, Amano K, Takaki E, Ebrahim ES, Shimohata A, Shibazaki N, Inoue I, Takaki M, Ueda Y, Sago H, Epstein CJ, Yamakawa K*.
    Increased lipid peroxidation in Down syndrome mouse models.
    J Neurochem 110: 1965-1976 (2009)
    10.1111/j.1471-4159.2009.06294.x
  25. Amano K, Fujii M, Arata S, Tojima T, Ogawa M, Shimohata A, Furuichi T, Itohara S, Kamiguchi H, Korenberg J.R, Arata A, Yamakawa K*.
    DSCAM deficiency causes loss of pre-inspiratoru neuron synchroneity and perinatal death.
    J Neurosci 29:2984-2996 (2009)
    10.1523/JNEUROSCI.3624-08.2009
  26. Suzuki T, Miyamoto H, Nakahari T, Inoue I, Suemoto T, Jiang B, Hirota Y, Itohara S, Saido TC, Tsumoto T, Sawamoto K, Hensch TK, Delgado-Escueta AV, Yamakawa K*.
    Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.
    Hum Mol Genet 18: 1099-1109 (2009)
    10.1093/hmg/ddp006
  27. Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, Inoue I, Takeuchi T, Itohara S, Yanagawa Y, Obata K, Furuichi T, Hensch TK, Yamakawa K*.
    Nav1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons: a Circuit Basis for Epileptic Seizures in Mice Carrying an Scn1a Gene Mutation.
    J Neurosci 27: 5903-5914 (2007)
    10.1523/JNEUROSCI.5270-06.2007
  28. Suzuki T, Delgado-Escueta AV*, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K*
    Mutations in EFHC1 cause juvenile myoclonic epilepsy.
    Nat Genet 36: 842-849 (2004)
    10.1038/ng1393
  29. Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, Montal M, Makita N, Tanaka M, Fukushima K, Fujiwara T, Inoue Y, Yamakawa K*
    A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.
    J Neurosci 24:2690-2698 (2004)
    10.1523/JNEUROSCI.3089-03.2004
  30. Ganesh S, Tsurutani N, Suzuki T, Ueda K. Agarwala KL, Osada H, Delgado-Escueta AV, Yamakawa K*
    The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain.
    Hum Mol Genet 12: 2359-2368 (2003)
    10.1093/hmg/ddg253
  31. Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watamabe M, Hara K, Morikawa T, Yagi K, Yamakawa K*, Inoue Y*
    Mutations of sodium channel alpha type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
    Brain 126:531-546 (2003)
    10.1093/brain/awg053
  32. Ganesh S, Delgado-Escueta AV, Sakamoto T, Avila MR, Machado-Salas J, Hoshii Y, Akagi T, Gomi H, Suzuki T, Amano K, Agarwala KL, Hasegawa Y, Bai D-S, Ishihara T, Hashikawa T, Itohara S, Cornford EM, Niki H, Yamakawa K*
    Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration , ataxia, myoclonus epilepsy and impaired behavioral response in mice.
    Hum Mol Genet 11:1251-1262 (2002a)
    10.1093/hmg/11.11.1251
  33. Ganesh S, Delgado-Escueta AV, Suzuki T, Francheschetti S, Riggio C, Avanzini G, Rabinowicz A, Bohlega S, Bailey J, Alonso ME, Rasmussen A, Thomson AE, Ochoa A, Prado AJ, Medina MT, Yamakawa K*
    Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: Exon 1 mutations associate with an early onset cognitive deficit subphenotype.
    Hum Mol Genet 11:1263-1271 (2002b)
    10.1093/hmg/11.11.1263
  34. Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, Inoue Y, Yamakawa K*
    Frequent Mutations of SCN1A in Severe Myoclonic Epilepsy in Infancy.
    Neurology 58:1122-1124 (2002)
    10.1212/wnl.58.7.1122
  35. Sugawara T, Mazaki-Miyazaki E, Ito M, Nagafuji H, Fukuma G, Mitsudome A, Wada K, Kaneko S, Hirose S, Yamakawa K*
    Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.
    Neurology 57: 703-705 (2001)
    10.1212/wnl.57.4.703
  36. Sugawara T, Tsurubuchi Y, Agarwala KL, Ito M, Fukuma G, Mazaki-Miyazaki E, Nagafuji H, Noda M, Imoto K, Wada K, Mitsudome A, Kaneko S, Montal M, Nagata K, Hirose S, Yamakawa K*
    A missense mutation of the Na+ channel aII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.
    Proc Natl Acad Sci USA 98: 6384-6389 (2001)
    10.1073/pnas.111065098
  37. Ganesh S, Agarwala K, Ueda K, Akagi T, Shoda K, Usui T, Hashikawa T, Osada H, Delgado-Escueta AV, Yamakawa K*
    Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes.
    Hum Mol Genet 9: 2251-2261 (2000)
    10.1093/oxfordjournals.hmg.a018916
  38. Yamakawa K, Huo Y-K, Haendel MA, Hubert R, Chen XN, Lyons GE, Korenberg JR*
    DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system.
    Hum Mol Genet 7:227-237 (1998)
    10.1093/hmg/7.2.227