Abstract
The family of neurodegenerative diseases known as hereditary spastic parapareses have diverse genetic loci, yet there is a remarkable convergence in the neuropathologic and neurologic phenotype. A report describing the construction of a transgenic mouse with a deletion of a nuclear-encoded mitochondrial protein involved in the regulation of oxidative phosphorylation suggests that this family of diseases may reflect activation of a final common pathway involving synaptic dysfunction that progresses to destruction of the presynaptic nerve terminal and axon.
Publication types
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Research Support, U.S. Gov't, P.H.S.
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Review
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Comment
MeSH terms
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ATPases Associated with Diverse Cellular Activities
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Animals
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Cell Nucleus / metabolism
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Gene Deletion
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Humans
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Membrane Potentials
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Metalloendopeptidases / genetics
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Metalloendopeptidases / physiology*
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Mice
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Mice, Transgenic
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Mitochondria / metabolism
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Models, Biological
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Oxidative Stress
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Oxygen / metabolism
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Phenotype
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Phosphorylation
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Spastic Paraplegia, Hereditary / genetics
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Synapses / physiology*
Substances
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Metalloendopeptidases
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SPG7 protein, human
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Spg7 protein, mouse
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ATPases Associated with Diverse Cellular Activities
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Oxygen