[1P-0681] Noncoding variants in ERRFI1 enhancer cluster and psoriasis risk

〇Naoto Kubota¹, Mikita Suyama¹ (1.Med. Inst. of Bioreg., Univ. of Kyushu)

The 41st Annual Meeting of the Molecular Biology Society of Japan

[1P-0682] A study on the onset mechanism of glaucoma and ALS : Investigation of the intranuclear function of OPTN using its variants designed based on the homology with an analogous protein NEMO

〇Masafumi Ohtsubo¹, Yoshihiro Hotta², Shinsei Minoshima¹ (1.Dept Photomedic Genomics, Hamamatsu Univ Sch Med, 2.Dept Ophthalmol, Hamamatsu Univ Sch Med)

The 41st Annual Meeting of the Molecular Biology Society of Japan

[1P-0683] Identification of novel epigenetic factors which suppress the phenotype FUS, ALS causing gene in Drosophila ALS desease model.

〇Kentaro Omori¹, Satoshi Asada¹, Hideki Yoshida², Masamitsu Yamaguchi² (1.Dept. of Appl. Biol., Kyoto Inst. of Technol., 2.Adv. Insect Res. Promotion Ctr., Kyoto Inst. of Technol.)

The 41st Annual Meeting of the Molecular Biology Society of Japan

[1P-0684] A novel nonsense variant in FGF14 encoding fibroblast growth factor 14 associated with spinocerebellar ataxia 27.

〇Kengo Kosaka¹, Shiroh Miura², Tomofumi Shimojo¹, Takuya Morikawa¹, Yusuke Uchiyama³, Takayuki Taniwaki², Hiroki Shibata¹ (1.Division of Genomics, MIB, Univ of Kyushu, 2.Division of Neurology, Dept of Medicine, Univ of Kurume, 3.Dept of Radiology, Univ of Kurume)

The 41st Annual Meeting of the Molecular Biology Society of Japan

[1P-0685] FAT2 (FAT atypical cadherin 2) is responsible for familial paroxysmal kinesigenic choreoathetosis (PKC)

〇TOMOFUMI SHIMOJO¹, SHIROH MIURA², KENGO KOSAKA¹, KOSUKE AOKI¹, TAKASHI KAMADA², HIROKI SHIBATA¹ (1.Division of Genomics, MIB, Univ of Kyushu, 2.Division of Neurology, Dept of Medicine, Univ of Kurume)

The 41st Annual Meeting of the Molecular Biology Society of Japan

[1P-0686] Ddhd1 knockout mice as a model system of hereditary spastic paraplegia

〇Takuya Morikawa¹, Shiroh Miura², Hiroaki Ohishi³, Kengo Kosaka¹, Tomofumi Shimojo¹, Akihiro Nagano¹, Motoko Unoki³, Hiroyuki Sasaki³, Hiroki Shibata¹ (1.Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 2.Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University, 3.Division of Epigenomics and Development, Medical Institute of Bioregulation, Kyushu University)

The 41st Annual Meeting of the Molecular Biology Society of Japan

[1P-0687] Gene therapy using Adeno-Associated Virus Vectors in a Plp1-transgenic mouse model of Pelizaeus-Merzbacher disease

〇Heng Li¹, Hironori Okada², Kazuhisa Sakai³, Takashi Okada², Noritaka Ichinohe³, Yu-ichi Goto¹, Ken Inoue¹ (1.Dept of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 2.Dept of Molecular and Medical Genetics, Graduate School of Medicine, Nippon Medical School, 3.Dept of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry)

The 41st Annual Meeting of the Molecular Biology Society of Japan

[1P-0688] Identification of genetic interactant with Drosophila CMT causing gene dFIG4

〇Yuka Muraoka¹, Aya Nakamura¹, Ryo Tanaka¹, Kojiro Suda¹, Yumiko Azuma², Yukie Kushimura¹, Luca lo Piccolo¹, Hideki Yoshida¹, Ikuko Mizuta³, Takahiko Tokuda², Toshiki Mizuno², Masamitsu Yamaguchi¹ (1.Dept of Applied Biology, Kyoto Institute of Technology, 2.Dept of Neurology, Grad Sch of Med Sci,Kyoto Pref Univ of Med, 3.Dept of Mol Dept of Neuro, Gra Sch of Med Sci, Kyoto Pref Univ of Med)

The 41st Annual Meeting of the Molecular Biology Society of Japan

[1P-0689] **Therapeutic Effect of RECTAS for Familial Dysautonomia by Activating SRSF6 on IKBKAP Splicing Enhancer**

〇Masahiko Ajiro^1,2, Young-Jin Kim³, Tomonari Awaya², Lorenz Studer⁴, Adrian R. Krainer³, Masatoshi Hagiwara^1,2 (1.Dept of Drug Discovery Med, Kyoto Univ Grad School of Med, 2.Dept of Anatomy and Dev Biol, Kyoto Univ Grad School of Med, 3.Cold Spring Harbor Lab, 4.Center for Stem Cell Biol, Sloan Kettering Inst)

The 41st Annual Meeting of the Molecular Biology Society of Japan

[1P-0691] Investigation of molecular function of SF3B4 by generating a disease model mouse of Nager syndrome.

〇Takahiko YAMADA¹, Norisuke YOKOYAMA¹, Yuichi HIRAOKA^2,3, Harumi ISHIKUBO^2,3, Takako USAMI^2,3, Yuki TAGA⁴, Kumiko YANAGI⁵, Kiyoko OGAWA-GOTO⁴, Tadashi KANAME⁵, Masaki TAKECHI¹, Sachiko ISEKI¹ (1.Sec of Mol Emb, TMDU, 2.Lab of Recombinant Animals, MRI, TMDU, 3.Lab of Mol Neuro, MRI, TMDU, 4.Nippi, Biomatrix, 5.Dept of Genome Medicine, NCCHD)

The 41st Annual Meeting of the Molecular Biology Society of Japan