[3P-743] Functional Analyses of X-linked Alport syndrome rats

Mayumi Kohno, Masumi Namba, Tomoe Kobayashi, Takayuki Koyano, ^○Makoto Matsuyama (Div. of Mol. Genet, Shigei Med. Res. Inst.)

The 45th Annual Meeting of the Molecular Biology Society of Japan

[3P-744] Constitutively active estrogen receptor α in muscle prolongs exercise endurance in mice

^○Kazuhiro Ikeda¹, Kuniko Horie¹, Satoshi Inoue^1,2 (1.Div. of Syst. Med. & Gene Ther., RCGM, Saitama Med. Univ., 2.Dept. of Syst. Aging Sci. and Med., Tokyo Metropolitan Inst. of Gerontol.)

The 45th Annual Meeting of the Molecular Biology Society of Japan

[3P-745] CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model

^○Hideki Tokuoka¹, Rieko Imae², Hitomi Nakashima¹, Hiroshi Manya², Chiaki Masuda³, Shunsuke Hoshino², Kazuhiro Kobayashi¹, Dirk Lefeber⁴, Riki Matsumoto¹, Takashi Okada⁵, Tamao Endo², Motoi Kanagawa^6,1, Tatsushi Toda⁷ (1.Div. of Mol. Bra. Sci. and Neurol., Grad. Sch. of Med., Kobe Univ., 2.Mol. Glycobiol., Tokyo Metro. Inst. of Gerontol., 3.Dept. of Biochem. and Mol. Biol., Nippon Med. Sch., 4.Dept. of Neurol., Radboud Univ., 5.Div. of Mol. and Med. Genet., Inst. of Med. Sci., Univ. of Tokyo, 6.Dept. of Cell Biol. and Mol. Med., Grad. Sch. of Med., Ehime Univ., 7.Dept. of Neurol., Grad. Sch. of Med., Univ. of Tokyo)

The 45th Annual Meeting of the Molecular Biology Society of Japan

[3P-746] Functional analysis of peptidylarginine deiminases, one of the RA-associated genes

^○Akari Suzuki (Laboratory for Autoimmunue diseases, IMS, RIKEN)

The 45th Annual Meeting of the Molecular Biology Society of Japan

[3P-747] Gene therapy by single intraventricular administration using AAVPHP.eB for NEU1 deficiencies

^○Rin Fukuike¹, Jun Tsukimoto¹, Yuto Horii¹, Yoshie Takeuchi², Nijiho Kamori², Mizuki Miyoshi¹, Michiko Kino³, Naozumi Ishimaru³, Kohji Itoh^1,2 (1.Dept. of Medicin. Biotechnol.,Grad. Sch. of Pharmceut. Sci., Tokushima Univ., 2.Dept. of Medicin. Biotechnol., Fac. of Pharmceut. Sci., Tokushima Univ., 3.Dept. of Oral. Mol. Path., Grad. Sch. of Oral Sci., Tokushima Univ.)

The 45th Annual Meeting of the Molecular Biology Society of Japan

[3P-748] Mitochondrial dysfunction caused by CrAT deficiency and iron accumulation

^○Hitomi Nishihata, Yoshihito Kishita (Dept. of Sci., Grad. Sch. of Sci. Eng., Univ. of Kindai)

The 45th Annual Meeting of the Molecular Biology Society of Japan

[3P-749] Diverse clinical manifestations due to pathogenic DHX37 variants in 46,XY DSD

^○Yuko Katohfukui¹, Atsushi Hattori¹, Maki Igarashi¹, Ruogu Zhang¹, Uehara Erika^1,2, Hirohito Shima³, Kanno Junko³, Hasegawa Yukihiro⁴, Reiko Horikawa², Maki Fukami¹ (1.Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2.Center for Postgraduate Education and Training, National Center for Child Health and Development, 3.Department of Pediatrics, Tohoku University School of Medicine, 4.Division of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center)

The 45th Annual Meeting of the Molecular Biology Society of Japan

[3P-750] Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human ARSB mutation knock-in

^○Kosuke Hosoba (Dept. of Biomed. Sci., Grad. Sch. of Integ. Sci. for Life., Hiroshima Univ)

The 45th Annual Meeting of the Molecular Biology Society of Japan

[3P-751] Generation and Analysis of Growth Hormone Deficiency Type II (IGHD2) Mouse Model

^○Kimi Araki¹, Hayate Shimada¹, Mana Kawashita¹, Masatake Araki¹, Shinsuke Shibata^2,3, Daisuke Ariyasu^1,4 (1.IRDA, Kumamoto Univ., 2.Dept. of Dent. Niigata Univ., 3.Keio Univ. School of Med, 4.Kawasali Hospital)

The 45th Annual Meeting of the Molecular Biology Society of Japan

[3P-752] Pathogenicity of a synonymous variant of FGFR2 found in a patient with Crouzon syndrome

^○Kumiko Yanagi, Tomomi Hidai, Makiko Omata, Arisa Igarashi, Taiga Aoki, Takaya Iida, Masahiko Yamamori, Kazuhito Satou, Tadashi Kaname (Dept. of Gen. Med., NCCHD, Tokyo)

The 45th Annual Meeting of the Molecular Biology Society of Japan