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Article

Lack of Spartin Protein in Troyer Syndrome

1 Apr 2008

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegias (SPG1-SPG33) are characterized by progressive spastic weakness of the lower limbs. A nucleotide deletion (1110delA) in the (SPG20; OMIM 275900) spartin gene is the origin of autosomal recessive Troyer syndrome. This mutation is predicted to cause premature termination of the spartin protein. However, it remains unknown whether this truncated spartin protein is absent or...

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Identifiers

PMID: 18413476
DOI: 10.1001/archneur.65.4.520

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Related research

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Research trail→

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Lack of Spartin Protein in Troyer SyndromePMID 18413476Read ↗

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Novel SPG20 mutation in an extended family with Troyer syndrome.Semantic proximity Read ↗

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.Semantic proximity Read ↗

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Developmental and degenerative features in a complicated spastic paraplegia.Semantic proximity Read ↗

SPG20 mutation in three siblings with familial hereditary spastic paraplegia.Semantic proximity Read ↗

Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling.Semantic proximity Read ↗

Three cases of Troyer syndrome in two families of Filipino descent.Semantic proximity Read ↗

The Troyer syndrome protein spartin mediates selective autophagy of lipid dropletsSemantic proximity Read ↗

A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform.Semantic proximity Read ↗

Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons.Semantic proximity Read ↗

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.Semantic proximity Read ↗

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