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Article

Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy

1 Mar 2001

Abstract excerpt

Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by the degeneration of motor neurons in the spinal cord. The disease is caused by mutations of the survival of motor neuron 1 gene (SMN1), resulting in a reduced production of functional SMN protein. A major question unanswered thus far is why reduced amounts of ubiquitously expressed SMN protein specifically cause the degeneration of motor...

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PMID: 11181573
DOI: 10.1093/hmg/10.5.497

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Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophyPMID 11181573Read ↗

Neuronal-Specific Roles of the Survival Motor Neuron ProteinSemantic proximity Read ↗

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The spinal muscular atrophy gene product regulates actin dynamicsSemantic proximity Read ↗

Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesisSemantic proximity Read ↗

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The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiationSemantic proximity Read ↗

Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy.Semantic proximity Read ↗

SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophySemantic proximity Read ↗

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