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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 825-843 |
| Number of pages | 19 |
| Journal | Neuron |
| Volume | 77 |
| Issue number | 5 |
| DOIs | |
| State | Published - Jan 1 2013 |
Fingerprint
Cite this
The unstable repeats-Three evolving faces of neurological disease. / Nelson, David L.; Orr, Harry T; Warren, Stephen T.
In: Neuron, Vol. 77, No. 5, 01.01.2013, p. 825-843.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - The unstable repeats-Three evolving faces of neurological disease
AU - Nelson, David L.
AU - Orr, Harry T
AU - Warren, Stephen T.
PY - 2013/1/1
Y1 - 2013/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84876449659&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84876449659&partnerID=8YFLogxK
U2 - 10.1016/j.neuron.2013.02.022
DO - 10.1016/j.neuron.2013.02.022
M3 - Review article
C2 - 23473314
AN - SCOPUS:84876449659
VL - 77
SP - 825
EP - 843
JO - Neuron
JF - Neuron
SN - 0896-6273
IS - 5
ER -