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Oxidative stress (OS) arises from an imbalance in the cellular redox state, which can lead to intracellular damage and ultimately cell death. OS occurs as a result of normal ageing, but it is also implicated as a common etiological factor in neurological disease; thus identifying novel proteins that modulate the OS response may facilitate the design of new therapeutic approaches applicable to many disorders. In this review, we describe the recent progress that has been made using a range of genetic approaches to understand a family of proteins that share the highly conserved TLDc domain. We highlight their shared ability to prevent OS-related cell death and their unique functional characteristics, as well as discussing their potential application as new neuroprotective factors. Furthermore, with an increasing number of pathogenic mutations leading to epilepsy and hearing loss being discovered in the TLDc protein TBC1D24, understanding the function of this family has important implications for a range of inherited neurological diseases.

Original publication

DOI

10.1007/s00335-017-9706-7

Type

Journal article

Journal

Mamm Genome

Publication Date

10/2017

Volume

28

Pages

395 - 406

Keywords

Animals, Carrier Proteins, Drug Discovery, Humans, Neurodegenerative Diseases, Nuclear Receptor Coactivators, Oxidative Stress, Protein Domains, Proteins, Reactive Oxygen Species