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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Analysis of splicing changes in motoneurons from mice of a severe model for Spinal Muscular Atrophy (SMA)

ABSTRACT: Motoneuron cell bodies were isolated by laser capture microdissection from severe SMA mice at postnatal day 3. The comparison was between heterozygote carriers, SMA disease mice and SMA mice rescued by a U7 snRNA correcting the splicing of human SMN2.

ORGANISM(S): Mus musculus

SUBMITTER: Daniel Schümperli

PROVIDER: E-MTAB-3170 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation.

Meyer Kathrin K Marquis Julien J Trüb Judith J Nlend Nlend Rachel R Verp Sonia S Ruepp Marc-David MD Imboden Hans H Barde Isabelle I Trono Didier D Schümperli Daniel D

Human molecular genetics 20081113 3

In spinal muscular atrophy (SMA), the leading genetic cause of early childhood death, the survival motor neuron 1 gene (SMN1) is deleted or inactivated. The nearly identical SMN2 gene has a silent mutation that impairs the utilization of exon 7 and the production of functional protein. It has been hypothesized that therapies boosting SMN2 exon 7 inclusion might prevent or cure SMA. Exon 7 inclusion can be stimulated in cell culture by oligonucleotides or intracellularly expressed RNAs, but evide ...[more]

PMID: 19010792

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Gene Expression Analysis of spinal cord obtained from a mouse model of severe Spinal Muscular Atrophy (SMA)

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Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy

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Expression data from SMA fibroblasts treated with amiloride or EIPA

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