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Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties
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 pro...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5328720/ https://www.ncbi.nlm.nih.gov/pubmed/28275661 http://dx.doi.org/10.1016/j.dib.2017.02.024 |
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author | 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 |
author_facet | 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 |
author_sort | Miyamoto, Yuki |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5328720 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-53287202017-03-08 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 Data Brief Data Article 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. Elsevier 2017-02-16 /pmc/articles/PMC5328720/ /pubmed/28275661 http://dx.doi.org/10.1016/j.dib.2017.02.024 Text en © 2017 The Authors http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Data Article 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 Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties |
title | Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties |
title_full | Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties |
title_fullStr | Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties |
title_full_unstemmed | Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties |
title_short | Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties |
title_sort | data on the effect of hypomyelinating leukodystrophy 6 (hld6)-associated mutations on the tubb4a properties |
topic | Data Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5328720/ https://www.ncbi.nlm.nih.gov/pubmed/28275661 http://dx.doi.org/10.1016/j.dib.2017.02.024 |
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