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Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties.

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.

SUBMITTER: Miyamoto Y

PROVIDER: S-EPMC5328720 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature

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Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties.

Miyamoto Yuki Y Torii Tomohiro T Kawahara Kazuko K Hasegawa Nanami N Tanoue Akito A Seki Yoichi Y Morimoto Takako T Funakoshi-Tago Megumi M Tamura Hiroomi H Homma Keiichi K Yamamoto Masahiro M Yamauchi Junji J

Data in brief 20170216

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. ...[more]

PMID: 28275661

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