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Neuron. 2013 Mar 6;77(5):825-43. doi: 10.1016/j.neuron.2013.02.022.

The unstable repeats--three evolving faces of neurological disease.

Author information

1
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. nelson@bcm.edu

Abstract

Disorders characterized by expansion of an unstable nucleotide repeat account for a number of inherited neurological diseases. Here, we review examples of unstable repeat disorders that nicely illustrate three of the major pathogenic mechanisms associated with these diseases: loss of function typically by disrupting transcription of the mutated gene, RNA toxic gain of function, and protein toxic gain of function. In addition to providing insight into the mechanisms underlying these devastating neurological disorders, the study of these unstable microsatellite repeat disorders has provided insight into very basic aspects of neuroscience.

PMID:
23473314
PMCID:
PMC3608403
DOI:
10.1016/j.neuron.2013.02.022
[Indexed for MEDLINE]
Free PMC Article

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