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:
Data Article
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
Descripción
Sumario: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.

Ejemplares similares