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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
1998-11-16
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pubmed:abstractText |
Childhood spinal muscular atrophy (SMA) is a common recessive autosomal disorder that results in degeneration of lower motor neurons. The identification of the disease gene, Survival of Motor Neuron (SMN), was a major advance in understanding the molecular basis underlying this devastating neuromuscular disease. This finding has greatly improved the genetic counselling of SMA families. Recently, biochemical studies demonstrated its involvement in the biogenesis of spliceosomal snRNPs, suggesting a critical role of SMN in RNA processing. Surprisingly, other studies showed a putative role of SMN in an anti-apoptotic pathway involving Bcl-2. The function of SMN protein is not fully understood. These observations emphasized the difficulty in elucidating the function of any novel protein. Therefore, multidisciplinary approaches are required to understand the pathogenesis of SMA.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
0964-6906
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
7
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1531-6
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:9735373-Animals,
pubmed-meshheading:9735373-Cyclic AMP Response Element-Binding Protein,
pubmed-meshheading:9735373-Humans,
pubmed-meshheading:9735373-Infant,
pubmed-meshheading:9735373-Infant, Newborn,
pubmed-meshheading:9735373-Mutation,
pubmed-meshheading:9735373-Nerve Tissue Proteins,
pubmed-meshheading:9735373-Phenotype,
pubmed-meshheading:9735373-RNA,
pubmed-meshheading:9735373-RNA Processing, Post-Transcriptional,
pubmed-meshheading:9735373-RNA-Binding Proteins,
pubmed-meshheading:9735373-Ribonucleoproteins, Small Nuclear,
pubmed-meshheading:9735373-SMN Complex Proteins,
pubmed-meshheading:9735373-Spinal Muscular Atrophies of Childhood,
pubmed-meshheading:9735373-Spliceosomes
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pubmed:year |
1998
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pubmed:articleTitle |
The role of the SMN gene in proximal spinal muscular atrophy.
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|
pubmed:affiliation |
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, IFREM, Institut Necker, Hôpital des Enfants Malades, 149 rue de Sèvres, 75743 Paris cedex 15, France. lefebvre@necker.fr
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pubmed:publicationType |
Journal Article,
Review,
Research Support, Non-U.S. Gov't
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