Effects of a mutation in the HSPE1 gene encoding the mitochondrial co-chaperonin HSP10 and its potential association with a neurological and developmental disorder

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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Bibliographic Details
Main Authors: Anne Sigaard Bie, Paula Fernandez-Guerra, Rune Isak Dupont Birkler, Shahar Nisemblat, Dita Pelnena, Xinping Lu, Joshua L. Deignan, Hane Lee, Naghmeh Dorrani, Thomas Juhl Corydon, Johan Palmfeldt, Liga Bivina, Abdussalam Azem, Kristin Herman, Bross Peter
Format: Article
Language:English
Published: Frontiers Media S.A. 2016-10-01
Series:Frontiers in Molecular Biosciences
Subjects:
Mitochondrial Proteins
Molecular Chaperones
Oxidative Stress
Protein Folding
neurological disorders
De novo mutations
Online Access:http://journal.frontiersin.org/Journal/10.3389/fmolb.2016.00065/full

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http://journal.frontiersin.org/Journal/10.3389/fmolb.2016.00065/full

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