Abstract
Spinal muscular atrophy (SMA), an autosomal recessive disorder characterized by the degeneration of motoneurons of the spinal cord and brainstem, results from loss-of-function mutations in the survival motor neuron gene (smn). The goal of these experiments was to analyse axons and cell bodies of motoneurons in different regions of the CNS during disease progression in a mouse model of SMA carrying a deletion of the exon 7 directed to neurons. These experiments demonstrate a progressive loss of motor axons and of motoneurons in the CNS. This is the first study that describes a selective neurodegeneration in this line of mice and underlines the importance of exon 7 in some populations of motoneurons for survival in vivo.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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Axons / pathology
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Brain Stem / pathology*
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Brain Stem / physiopathology
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Cell Survival / genetics
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Cranial Nerves / pathology
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Cranial Nerves / physiopathology
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Cyclic AMP Response Element-Binding Protein
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Disease Models, Animal
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Disease Progression
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Exons / genetics
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Gene Deletion
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Mice
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Mice, Neurologic Mutants
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Mice, Transgenic
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Motor Neurons / pathology*
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Muscular Atrophy, Spinal / genetics*
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Muscular Atrophy, Spinal / pathology*
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Muscular Atrophy, Spinal / physiopathology
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Nerve Degeneration / genetics*
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Nerve Degeneration / pathology*
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Nerve Degeneration / physiopathology
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Nerve Tissue Proteins / deficiency*
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Nerve Tissue Proteins / genetics
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Peripheral Nerves / pathology
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Peripheral Nerves / physiopathology
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RNA-Binding Proteins
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SMN Complex Proteins
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Spinal Cord / pathology*
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Spinal Cord / physiopathology
Substances
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Cyclic AMP Response Element-Binding Protein
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Nerve Tissue Proteins
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RNA-Binding Proteins
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SMN Complex Proteins