AMERICAN JOURNAL OF HUMAN GENETICS 95(3) 294-300 2014年9月 [査読有り]
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy characterized by clinical and genetic heterogeneity. Although more than 30 loci harboring CMT-causing mutations have been identified, many other genes still remain to be dis...
Osamu Udagawa Chizuru Ito Narumi Ogonuki Hiroyasu Sato Shoken Lee Pearlta Tripvanuntakul Ikuyo Ichi Yasunori Uchida Taki Nishimura Makoto Murakami Atsuo Ogura Takao Inoue Kiyotaka Toshimori Hiroyuki Arai
GENES TO CELLS 19(1) 13-27 2014年1月 [査読有り]
Oligo-astheno-teratozoospermia (OAT), a condition that includes low sperm number, low sperm motility and abnormal sperm morphology, is the commonest cause of male infertility. Because genetic analysis is frequently impeded by the infertility pheno...
Nobuyoshi Takasaki Kouichi Tachibana Satoshi Ogasawara Hideki Matsuzaki Jun Hagiuda Hiromichi Ishikawa Keiji Mochida Kimiko Inoue Narumi Ogonuki Atsuo Ogura Toshiaki Noce Chizuru Ito Kiyotaka Toshimori Hisashi Narimatsu
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 111(3) 1120-1125 2014年1月 [査読有り]
For normal fertilization in mammals, it is important that functionally mature sperm are motile and have a fully formed acrosome. The glycosyltransferase-like gene, human polypeptide N-acetylgalactosaminyl-transferase- like protein 5 (GALNTL5), bel...
Tomo Funaki Shunsuke Kon Kenji Tanabe Waka Natsume Sayaka Sato Tadafumi Shimizu Naomi Yoshida Won Fen Wong Atsuo Ogura Takehiko Ogawa Kimiko Inoue Narumi Ogonuki Hiromi Miki Keiji Mochida Keisuke Endoh Kentarou Yomogida Manabu Fukumoto Reiko Horai Yoichiro Iwakura Chizuru Ito Kiyotaka Toshimori Toshio Watanabe Masanobu Satake
MOLECULAR BIOLOGY OF THE CELL 24(17) 2633-2644 2013年9月 [査読有り]
The trans-Golgi network (TGN) functions as a hub organelle in the exocytosis of clathrin-coated membrane vesicles, and SMAP2 is an Arf GTPase-activating protein that binds to both clathrin and the clathrin assembly protein (CALM). In the present s...
大学院国際学術研究院