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Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties.
Miyamoto, Yuki; Torii, Tomohiro; Kawahara, Kazuko; Hasegawa, Nanami; Tanoue, Akito; Seki, Yoichi; Morimoto, Takako; Funakoshi-Tago, Megumi; Tamura, Hiroomi; Homma, Keiichi; Yamamoto, Masahiro; Yamauchi, Junji.
Afiliação
  • Miyamoto Y; Laboratory of Molecular Neuroscience and Neurology, School of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0355, Japan; Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan.
  • Torii T; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
  • Kawahara K; Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan.
  • Hasegawa N; Department of Hygienic Chemistry, Faculty of Pharmacy, Keio University, Minato, Tokyo 105-8512, Japan.
  • Tanoue A; Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan.
  • Seki Y; Laboratory of Molecular Neuroscience and Neurology, School of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0355, Japan.
  • Morimoto T; Laboratory of Molecular Neuroscience and Neurology, School of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0355, Japan.
  • Funakoshi-Tago M; Department of Hygienic Chemistry, Faculty of Pharmacy, Keio University, Minato, Tokyo 105-8512, Japan.
  • Tamura H; Department of Hygienic Chemistry, Faculty of Pharmacy, Keio University, Minato, Tokyo 105-8512, Japan.
  • Homma K; Department of Life Science and Informatics, Maebashi Institute of Technology, Maebashishi, Gunma 371-0816, Japan.
  • Yamamoto M; Tsumura Research Laboratories, Tsumura & Co., Inashiki, Ibaraki 200-1192, Japan.
  • Yamauchi J; Laboratory of Molecular Neuroscience and Neurology, School of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0355, Japan; Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan.
Data Brief ; 11: 284-289, 2017 Apr.
Article em En | MEDLINE | ID: mdl-28275661
ABSTRACT
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.
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2017 Tipo de documento: Article