Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
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
_version_ 1782510928121561088
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
work_keys_str_mv AT miyamotoyuki dataontheeffectofhypomyelinatingleukodystrophy6hld6associatedmutationsonthetubb4aproperties
AT toriitomohiro dataontheeffectofhypomyelinatingleukodystrophy6hld6associatedmutationsonthetubb4aproperties
AT kawaharakazuko dataontheeffectofhypomyelinatingleukodystrophy6hld6associatedmutationsonthetubb4aproperties
AT hasegawananami dataontheeffectofhypomyelinatingleukodystrophy6hld6associatedmutationsonthetubb4aproperties
AT tanoueakito dataontheeffectofhypomyelinatingleukodystrophy6hld6associatedmutationsonthetubb4aproperties
AT sekiyoichi dataontheeffectofhypomyelinatingleukodystrophy6hld6associatedmutationsonthetubb4aproperties
AT morimototakako dataontheeffectofhypomyelinatingleukodystrophy6hld6associatedmutationsonthetubb4aproperties
AT funakoshitagomegumi dataontheeffectofhypomyelinatingleukodystrophy6hld6associatedmutationsonthetubb4aproperties
AT tamurahiroomi dataontheeffectofhypomyelinatingleukodystrophy6hld6associatedmutationsonthetubb4aproperties
AT hommakeiichi dataontheeffectofhypomyelinatingleukodystrophy6hld6associatedmutationsonthetubb4aproperties
AT yamamotomasahiro dataontheeffectofhypomyelinatingleukodystrophy6hld6associatedmutationsonthetubb4aproperties
AT yamauchijunji dataontheeffectofhypomyelinatingleukodystrophy6hld6associatedmutationsonthetubb4aproperties