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  Spinal muscular atrophy: the RNP connection

Eggert, C., Chari, A., Laggerbauer, B., & Fischer, U. (2006). Spinal muscular atrophy: the RNP connection. Trends in Molecular Medicine, 12(3), 113-121. doi:10.1016/j.molmed.2006.01.005.

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3288374.pdf (Publisher version), 2MB
 
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Eggert, C., Author
Chari, A.1, Author           
Laggerbauer, B., Author
Fischer, U., Author
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1Research Group of Structural Biochemistry and Mechanisms, MPI for Biophysical Chemistry, Max Planck Society, ou_3265855              

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 Abstract: Degenerated motor neurons in the spinal cord are the pathological hallmark of spinal muscular atrophy (SMA). SMA is caused by mutations in the ubiquitously expressed survival motor neuron 1 (SMN1) gene, which lead to reduced levels of functional SMN protein. Many different functions have been assigned to SMN, including assembly of ribonucleoproteins (RNPs), splicing, transcription and axonal mRNA transport. Recently, tissue from SMA patients and animal models has been used to determine which function of SMN is affected in SMA patients. A surprising picture has emerged: the impaired assembly of RNP subunits of the spliceosome seems to be responsible for SMA pathogenesis. Here, we present a model of how this defect might cause motor-neuron degeneration and consider potential therapies.

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Language(s): eng - English
 Dates: 2006-02-132006-03
 Publication Status: Published in print
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 Rev. Type: Peer
 Identifiers: DOI: 10.1016/j.molmed.2006.01.005
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Title: Trends in Molecular Medicine
Source Genre: Journal
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Pages: - Volume / Issue: 12 (3) Sequence Number: - Start / End Page: 113 - 121 Identifier: -