Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder

We here report molecular investigations of a missense mutation in the HSPE1 gene encoding the HSP10 subunit of the HSP60/ HSP10 chaperonin complex that assists protein folding in the mitochondrial matrix. The mutation was identified in an infant who came to clinical attention due to infantile spasms...

Descripción completa

Detalles Bibliográficos
Autores principales: Bie, Anne S., Fernandez-Guerra, Paula, Birkler, Rune I. D., Nisemblat, Shahar, Pelnena, Dita, Lu, Xinping, Deignan, Joshua L., Lee, Hane, Dorrani, Naghmeh, Corydon, Thomas J., Palmfeldt, Johan, Bivina, Liga, Azem, Abdussalam, Herman, Kristin, Bross, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2016
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5053987/
https://www.ncbi.nlm.nih.gov/pubmed/27774450
http://dx.doi.org/10.3389/fmolb.2016.00065

Ejemplares similares

Ejemplares similares