Abstract
An intriguing set of neurodegenerative disease are the nine disorders caused by the expansion of a unstable trinucleotide CAG repeat where the repeat is located within the coding of the affected gene, that is, the polyglutamine (polyQ) diseases. A gain-of-function mechanism for toxicity in polyQ diseases is widely thought to have a major role in pathogenesis. Yet, the specific nature of this gain-of-function is a matter of considerable discussion. The basic issue concerns whether toxicity stems from the native or normal function of the affected protein versus a novel function induced by polyQ expansion. For at least three of the polyQ disease considerable evidence is accumulating that pathology is mediated by a polyQ-induced exaggeration of a native function of the host protein.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 251-255 |
| Number of pages | 5 |
| Journal | Current Opinion in Genetics and Development |
| Volume | 22 |
| Issue number | 3 |
| DOIs | |
| State | Published - Jun 1 2012 |
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Polyglutamine neurodegeneration : Expanded glutamines enhance native functions. / Orr, Harry T.
In: Current Opinion in Genetics and Development, Vol. 22, No. 3, 01.06.2012, p. 251-255.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Polyglutamine neurodegeneration
T2 - Expanded glutamines enhance native functions
AU - Orr, Harry T
PY - 2012/6/1
Y1 - 2012/6/1
N2 - An intriguing set of neurodegenerative disease are the nine disorders caused by the expansion of a unstable trinucleotide CAG repeat where the repeat is located within the coding of the affected gene, that is, the polyglutamine (polyQ) diseases. A gain-of-function mechanism for toxicity in polyQ diseases is widely thought to have a major role in pathogenesis. Yet, the specific nature of this gain-of-function is a matter of considerable discussion. The basic issue concerns whether toxicity stems from the native or normal function of the affected protein versus a novel function induced by polyQ expansion. For at least three of the polyQ disease considerable evidence is accumulating that pathology is mediated by a polyQ-induced exaggeration of a native function of the host protein.
AB - An intriguing set of neurodegenerative disease are the nine disorders caused by the expansion of a unstable trinucleotide CAG repeat where the repeat is located within the coding of the affected gene, that is, the polyglutamine (polyQ) diseases. A gain-of-function mechanism for toxicity in polyQ diseases is widely thought to have a major role in pathogenesis. Yet, the specific nature of this gain-of-function is a matter of considerable discussion. The basic issue concerns whether toxicity stems from the native or normal function of the affected protein versus a novel function induced by polyQ expansion. For at least three of the polyQ disease considerable evidence is accumulating that pathology is mediated by a polyQ-induced exaggeration of a native function of the host protein.
UR - http://www.scopus.com/inward/record.url?scp=84862501578&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84862501578&partnerID=8YFLogxK
U2 - 10.1016/j.gde.2012.01.001
DO - 10.1016/j.gde.2012.01.001
M3 - Review article
VL - 22
SP - 251
EP - 255
JO - Current Opinion in Genetics and Development
JF - Current Opinion in Genetics and Development
SN - 0959-437X
IS - 3
ER -