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...

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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

Internet

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

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