Abstract
There has been considerable recent progress in understanding mechanisms by which gene mutations cause degeneration of motoneurons and peripheral nerves. Novel therapies inspired by these insights have begun to yield promising results in mouse models of these genetic diseases. Among these have been the use of small molecules or proteins to suppress gain-of-function mutations (eg, ascorbic acid for Charcot-Marie-Tooth disease type 1A) or to restore enzyme activities that are deficient because of loss-of-function mutations (eg, treatment of Fabry's disease with recombinant α-galactosidase or with low-molecular-weight α-galactosidase chaperones and treatment of spinal muscular atrophy with phenylbutyrate). Some of these therapies are already being tested in humans. Equally exciting is the prospect that small molecules and proteins will be identified that exert potent therapeutic effects in a broad spectrum of inherited and acquired motoneuron and peripheral nerve disorders.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 258-262 |
| Number of pages | 5 |
| Journal | Journal of Child Neurology |
| Volume | 20 |
| Issue number | 3 |
| State | Published - Mar 2005 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
Cite this
New treatments for denervating diseases. / Pleasure, David E.
In: Journal of Child Neurology, Vol. 20, No. 3, 03.2005, p. 258-262.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - New treatments for denervating diseases
AU - Pleasure, David E
PY - 2005/3
Y1 - 2005/3
N2 - There has been considerable recent progress in understanding mechanisms by which gene mutations cause degeneration of motoneurons and peripheral nerves. Novel therapies inspired by these insights have begun to yield promising results in mouse models of these genetic diseases. Among these have been the use of small molecules or proteins to suppress gain-of-function mutations (eg, ascorbic acid for Charcot-Marie-Tooth disease type 1A) or to restore enzyme activities that are deficient because of loss-of-function mutations (eg, treatment of Fabry's disease with recombinant α-galactosidase or with low-molecular-weight α-galactosidase chaperones and treatment of spinal muscular atrophy with phenylbutyrate). Some of these therapies are already being tested in humans. Equally exciting is the prospect that small molecules and proteins will be identified that exert potent therapeutic effects in a broad spectrum of inherited and acquired motoneuron and peripheral nerve disorders.
AB - There has been considerable recent progress in understanding mechanisms by which gene mutations cause degeneration of motoneurons and peripheral nerves. Novel therapies inspired by these insights have begun to yield promising results in mouse models of these genetic diseases. Among these have been the use of small molecules or proteins to suppress gain-of-function mutations (eg, ascorbic acid for Charcot-Marie-Tooth disease type 1A) or to restore enzyme activities that are deficient because of loss-of-function mutations (eg, treatment of Fabry's disease with recombinant α-galactosidase or with low-molecular-weight α-galactosidase chaperones and treatment of spinal muscular atrophy with phenylbutyrate). Some of these therapies are already being tested in humans. Equally exciting is the prospect that small molecules and proteins will be identified that exert potent therapeutic effects in a broad spectrum of inherited and acquired motoneuron and peripheral nerve disorders.
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UR - http://www.scopus.com/inward/citedby.url?scp=17644381943&partnerID=8YFLogxK
M3 - Article
C2 - 15832625
AN - SCOPUS:17644381943
VL - 20
SP - 258
EP - 262
JO - Journal of Child Neurology
JF - Journal of Child Neurology
SN - 0883-0738
IS - 3
ER -