Journal
MOLECULAR BIOLOGY OF THE CELL
Volume 18, Issue 5, Pages 1683-1692Publisher
AMER SOC CELL BIOLOGY
DOI: 10.1091/mbc.E06-09-0833
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Funding
- Intramural NIH HHS Funding Source: Medline
- NINDS NIH HHS [K22 NS050137, K22 NS 50137-01] Funding Source: Medline
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Troyer syndrome is an autosomal recessive hereditary spastic paraplegia caused by mutation in the spartin (SPG20) gene, which encodes a widely expressed protein of unknown function. This mutation results in premature protein truncation and thus might signify a loss-of-function disease mechanism. In this study, we have found that spartin is monoubiquitinated and functions in degradation of the epidermal growth factor receptor (EGFR). Upon EGF stimulation, spartin translocates from the cytoplasm to the plasma membrane and colocalizes with internalized EGF-Alexa. Knock-down of spartin by small interfering RNA decreases the rate of EGFR degradation and also affects EGFR internalization, recycling, or both. Furthermore, overexpression of spartin results in a prominent decrease in EGFR degradation. Taken together, our data suggest that spartin is involved in the intracellular trafficking of EGFR and that impaired endocytosis may underlie the pathogenesis of Troyer syndrome.
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