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| Status |
Public on Mar 01, 2010 |
| Title |
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS) |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
Gene expression profiling has been performed on motor cortex and spinal cord homogenates and of sporadic ALS cases and controls, to identify genes and pathways differentially expressed in ALS. More recent studies have combined the use of laser capture microdissection (LCM) with gene expression profiling to isolate the motor neurons from the surrounding cells, such as microglia and astrocytes, in order to determine those genes differentially expressed in the vulnerable cell population – i.e. motor neuron.
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| Overall design |
The aim of this study was to determine the gene expression profiles from a small subset of cases which all carry mutations in the CHMP2B gene. These mutations have been found to be associated with the lower motor neuron dominant variant of ALS. Expression profiles from isolated motor neurons in CHMP2B-related ALS cases were compared to those from control motor neurons, in order to establish the pathways implicated in CHMP2B-related motor neuronal cell death.
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| Contributor(s) |
Cox LE, Ferraiuolo L, Goodall E, Heath PR, Higginbottom A, Mortiboys H, Hollinger HC, Hartley JA, Brockington A, Burness CE, Morrison KE, Wharton SB, Grierson AJ, Ince PG, Kirby J, Shaw PJ |
| Citation(s) |
20352044 |
| Submission date |
Dec 04, 2009 |
| Last update date |
Mar 25, 2019 |
| Contact name |
Paul Roy Heath |
| E-mail(s) |
p.heath@sheffield.ac.uk
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| Phone |
+44 114 2222254
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| Organization name |
University of Sheffield
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| Department |
Academic Neurology Unit
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| Lab |
Heath
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| Street address |
SITraN, 385a Glossop Road
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| City |
Sheffield |
| State/province |
S. Yorks |
| ZIP/Postal code |
S10 2HQ |
| Country |
United Kingdom |
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| Platforms (1) |
| GPL570 |
[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array |
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| Samples (10)
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| Relations |
| BioProject |
PRJNA121697 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE19332_RAW.tar |
33.6 Mb |
(http)(custom) |
TAR (of CEL) |
| Processed data included within Sample table |
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