ArticleMolecular biology of the cell2007
Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking.
Article in Molecular biology of the cell, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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Who cites it
57 citing papers in PubMed, 99 citations in OpenAlex.
- Article
- The Troyer syndrome protein spartin mediates selective autophagy of lipid droplets.Nature cell biology · 2023Article
- Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.Open biology · 2023Article
- Article
- Methylation of FBN1, SPG20, ITF2, RUNX3, SNCA, MLH1, and SEPT9 genes in circulating cell-free DNA as biomarkers of colorectal cancer.Cancer biomarkers : section A of Disease markers · 2022Article
- Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia.Cells · 2021Review
- Methylation as a critical epigenetic process during tumor progressions among Iranian population: an overview.Genes and environment : the official journal of the Japanese Environmental Mutagen Society · 2021Review
- Article
- Combined detection of stool-based methylation indicators for early screening of colorectal neoplasm.American journal of translational research · 2021Article
- Lipid metabolic pathways converge in motor neuron degenerative diseases.Brain : a journal of neurology · 2020Review
- Article
- Anti-ageing effects of red ginseng on female Drosophila melanogaster.Journal of cellular and molecular medicine · 2020Article
- Why Does the Face Predict the Brain? Neural Crest Induction, Craniofacial Morphogenesis, and Neural Circuit Development.Frontiers in physiology · 2020Review
- Update on the Genetics of Spastic Paraplegias.Current neurology and neuroscience reports · 2019Review
- NeurodegenERation: The Central Role for ER Contacts in Neuronal Function and Axonopathy, Lessons From Hereditary Spastic Paraplegias and Related Diseases.Frontiers in neuroscience · 2019Review
- Article
- PB1 and UBA domains of p62 are essential for aggresome-like induced structure formation.Biochemical and biophysical research communications · 2018Article
- Mutation hotspots at CTCF binding sites coupled to chromosomal instability in gastrointestinal cancers.Nature communications · 2018Article
- The role of TGF-β superfamily signaling in neurological disorders.Acta biochimica et biophysica Sinica · 2018Review
- Mitochondrial energy metabolism is required for lifespan extension by the spastic paraplegia-associated protein spartin.Microbial cell (Graz, Austria) · 2017Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
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 mono-ubiquitinated 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. Knockdown 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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Registered trials
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