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Article

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

25 Apr 2008

Abstract excerpt

Homozygous deletion of the survival motor neuron 1 gene (SMN1) causes spinal muscular atrophy (SMA), the most frequent genetic cause of early childhood lethality. In rare instances, however, individuals are asymptomatic despite carrying the same SMN1 mutations as their affected siblings, thereby suggesting the influence of modifier genes. We discovered that unaffected SMN1-deleted females exhibit significantly...

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PMID: 18440926
DOI: 10.1126/science.1155085

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Related research

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Research trail→

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Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular AtrophyPMID 18440926Read ↗

Plastin 3 Promotes Motor Neuron Axonal Growth and Extends Survival in a Mouse Model of Spinal Muscular AtrophySemantic proximity Read ↗

Survival Motor Neuron Affects Plastin 3 Protein Levels Leading to Motor DefectsSemantic proximity Read ↗

Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality.Semantic proximity Read ↗

Plastin-3 extends survival and reduces severity in mouse models of spinal muscular atrophySemantic proximity Read ↗

Calcium binding is essential for plastin 3 function in Smn-deficient motoneurons.Semantic proximity Read ↗

Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings.Semantic proximity Read ↗

Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophySemantic proximity Read ↗

Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.Semantic proximity Read ↗

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings.Semantic proximity Read ↗

Modifier genes: Moving from pathogenesis to therapy.Semantic proximity Read ↗

PLS3 expression and SMA phenotype: a commentary on correlation of PLS3 expression with disease severity in children with spinal muscular atrophy.Semantic proximity Read ↗

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.Semantic proximity Read ↗

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