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IP3R1 deficiency in the cerebellum/brainstem causes basal ganglia-independent dystonia by triggering tonic Purkinje cell firings in mice.
Hisatsune C, Miyamoto H, Hirono M, Yamaguchi N, Sugawara T, Ogawa N, Ebisui E, Ohshima T, Yamada M, Hensch TK, Hattori M, Mikoshiba K. Hisatsune C, et al. Among authors: miyamoto h. Front Neural Circuits. 2013 Oct 4;7:156. doi: 10.3389/fncir.2013.00156. eCollection 2013. Front Neural Circuits. 2013. PMID: 24109434 Free PMC article.
Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.
Tomioka NH, Yasuda H, Miyamoto H, Hatayama M, Morimura N, Matsumoto Y, Suzuki T, Odagawa M, Odaka YS, Iwayama Y, Won Um J, Ko J, Inoue Y, Kaneko S, Hirose S, Yamada K, Yoshikawa T, Yamakawa K, Aruga J. Tomioka NH, et al. Among authors: miyamoto h. Nat Commun. 2014 Jul 22;5:4501. doi: 10.1038/ncomms5501. Nat Commun. 2014. PMID: 25047565 Free article.
Impaired cortico-striatal excitatory transmission triggers epilepsy.
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. Miyamoto H, et al. Nat Commun. 2019 Apr 23;10(1):1917. doi: 10.1038/s41467-019-09954-9. Nat Commun. 2019. PMID: 31015467 Free PMC article.
Brain-specific heterozygous loss-of-function of ATP2A2, endoplasmic reticulum Ca2+ pump responsible for Darier's disease, causes behavioral abnormalities and a hyper-dopaminergic state.
Nakajima K, Ishiwata M, Weitemier AZ, Shoji H, Monai H, Miyamoto H, Yamakawa K, Miyakawa T, McHugh TJ, Kato T. Nakajima K, et al. Among authors: miyamoto h. Hum Mol Genet. 2021 Aug 28;30(18):1762-1772. doi: 10.1093/hmg/ddab137. Hum Mol Genet. 2021. PMID: 34104969 Free PMC article.
1,876 results