Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties
Yuki Miyamoto,
Tomohiro Torii,
Kazuko Kawahara,
Nanami Hasegawa,
Akito Tanoue,
Yoichi Seki,
Takako Morimoto,
Megumi Funakoshi-Tago,
Hiroomi Tamura,
Keiichi Homma,
Masahiro Yamamoto,
Junji Yamauchi
Affiliations
Yuki Miyamoto
Laboratory of Molecular Neuroscience and Neurology, School of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0355, Japan
Tomohiro Torii
Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA
Kazuko Kawahara
Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan
Nanami Hasegawa
Department of Hygienic Chemistry, Faculty of Pharmacy, Keio University, Minato, Tokyo 105-8512, Japan
Akito Tanoue
Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan
Yoichi Seki
Laboratory of Molecular Neuroscience and Neurology, School of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0355, Japan
Takako Morimoto
Laboratory of Molecular Neuroscience and Neurology, School of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0355, Japan
Megumi Funakoshi-Tago
Department of Hygienic Chemistry, Faculty of Pharmacy, Keio University, Minato, Tokyo 105-8512, Japan
Hiroomi Tamura
Department of Hygienic Chemistry, Faculty of Pharmacy, Keio University, Minato, Tokyo 105-8512, Japan
Keiichi Homma
Department of Life Science and Informatics, Maebashi Institute of Technology, Maebashishi, Gunma 371-0816, Japan
Masahiro Yamamoto
Tsumura Research Laboratories, Tsumura & Co., Inashiki, Ibaraki 200-1192, Japan
Junji Yamauchi
Laboratory of Molecular Neuroscience and Neurology, School of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0355, Japan
Hypomyelinating leukodystrophy (HLD) is genetic demyelinating or dysmyelinating disease and is associated with at least 13 responsible genes. The mutations seem likely cause the functional deficiency of their gene products. HLD4- and HLD5-associated HSPD1 and FAM126A mutations affect biochemical properties of the gene products (Miyamoto et al. (2015,2014) [1,2]). Herein we provide the data regarding the effects of HLD6-associated tubulin beta 4A (TUBB4A) mutations on the properties.
