Transcriptomics

Dataset Information

4

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)


ABSTRACT: 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. 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.

ORGANISM(S): Homo sapiens  

SUBMITTER: Heather Mortiboys   Karen E Morrison  Laura Ferraiuolo  Andrew J Grierson  Pamela J Shaw  Paul Heath  Christine E Burness  Stephen B Wharton  Hannah C Hollinger  Janine Kirby  Adrian Higginbottom  Paul R Heath  Emily Goodall  Laura E Cox  Judith A Hartley  Alice Brockington  Paul G Ince 

PROVIDER: E-GEOD-19332 | ArrayExpress | 2010-03-07

SECONDARY ACCESSION(S): GSE19332PRJNA121697

REPOSITORIES: GEO, ArrayExpress

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