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The survival motor neuron protein in spinal muscular atrophy

1 Aug 1997

Abstract excerpt

The 38 kDa survival motor neuron (SMN) protein is encoded by two ubiquitously expressed genes: telomeric SMN (SMN(T)) and centromeric SMN (SMN(C)). Mutations in SMN(T), but not SMN(C), cause proximal spinal muscular atrophy (SMA), an autosomal recessive disorder that results in loss of motor neurons. SMN is found in the cytoplasm and nucleus. The nuclear form is located in structures termed gems. Using a panel of...

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Identifiers

PMID: 9259265
DOI: 10.1093/hmg/6.8.1205

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Source receipt: pubmed, retrieved 7 Sept 2026.

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The survival motor neuron protein in spinal muscular atrophyPMID 9259265Read ↗

Expression of the SMN Gene, the Spinal Muscular Atrophy Determining Gene, in the Mammalian Central Nervous SystemSemantic proximity Read ↗

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

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

The Biochemistry of Survival Motor Neuron Protein Is Paving the Way to Novel Therapies for Spinal Muscle Atrophy.Semantic proximity Read ↗

Survival motor neuron (SMN) protein in rat is expressed as different molecular forms and is developmentally regulatedSemantic proximity Read ↗

The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization.Semantic proximity Read ↗

Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene.Semantic proximity Read ↗

Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type IIISemantic proximity Read ↗

Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease.Semantic proximity Read ↗

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The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.Semantic proximity Read ↗

Genetic circuitry of Survival motor neuron, the gene underlying spinal muscular atrophy.Semantic proximity Read ↗

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