Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Transcription profiling of muscular and neuronal mouse mutant: spinal muscular atrophy(SMA)


ABSTRACT: Study of gene expression profiles of muscular and neuronal mouse mutant of spinal muscular atrophy(SMA). Pre and post symptomatic stage disease have been analyzed.

ORGANISM(S): Mus musculus

DISEASE(S): spinal muscular atrophy (NCI Metathesaurus C0026847) has DiseaseStaging postsymptomatic

SUBMITTER: Judith Melki 

PROVIDER: E-MEXP-131 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Activation of RNA metabolism-related genes in mouse but not human tissues deficient in SMN.

Olaso Robert R   Joshi Vandana V   Fernandez Julien J   Roblot Natacha N   Courageot Sabrina S   Bonnefont Jean Paul JP   Melki Judith J  

Physiological genomics 20050823 2


Mutations of the survival of motor neuron gene (SMN1) are responsible for spinal muscular atrophies (SMA), a frequent recessive autosomal motor neuron disease. SMN is involved in various processes including RNA metabolism. However, the molecular pathway linking marked deficiency of SMN to SMA phenotype remains unclear. Homozygous deletion of murine Smn exon 7 directed to neurons or skeletal muscle causes severe motor axonal or myofiber degeneration, respectively. With the use of cDNA microarrays  ...[more]

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