Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties
| Autor: | Megumi Funakoshi-Tago, Hiroomi Tamura, Nanami Hasegawa, Keiichi Homma, Masahiro Yamamoto, Akito Tanoue, Junji Yamauchi, Yuki Miyamoto, Takako Morimoto, Tomohiro Torii, Kazuko Kawahara, Yoichi Seki |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Genetics Multidisciplinary biology Disease associated mutation Disease lcsh:Computer applications to medicine. Medical informatics HLD6 TUBB4A Hypomyelinating leukodystrophy 03 medical and health sciences 030104 developmental biology Tubulin biology.protein lcsh:R858-859.7 Tubulin Beta Disease-associated mutation lcsh:Science (General) Gene lcsh:Q1-390 Data Article Biochemical property |
| Zdroj: | Data in Brief Data in Brief, Vol 11, Iss C, Pp 284-289 (2017) |
| ISSN: | 2352-3409 |
| DOI: | 10.1016/j.dib.2017.02.024 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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