SPG20 Antibody

1. Methylation-induced Spastic paraplegia 20 silencing facilitates gastric cancer cell proliferation by activating the EGFR/MAPK signaling pathway. PMID: 29673586
2. we report the clinical findings in three brothers of a consanguineous Moroccan family, aged 24, 17, and 7 yr old, with spastic paraplegia, short stature, motor and cognitive delay, and severe intellectual disability. Targeted exon capture and sequencing showed a homozygous nonsense mutation in the SPG20 gene, c.1369C>T (p.Arg457*), in the three affected boys. PMID: 28679690
3. Study identified mutation in SPG20 as the disease causing mutation for Troyer Syndrome in Turkish siblings. PMID: 26003402
4. Up-regulation of SPG20 expression, brought about by trisomy 13 in colon cancer cells trisomy 13 amniocytes, is sufficient for the cytokinesis failure phenotype. PMID: 25942454
5. hypermethylation of the spastic paraplegia-20 promoter occurred frequently in gastric cancer. PMID: 24381142
6. The study reveals that hypermethylation in Spastic paraplegia-20 promoter is a highly specific and sensitive biomarker for screening colorectal cancer in stool samples as a noninvasive method. PMID: 23372428
7. Spartin regulates both synaptic development and neuronal survival by controlling microtubule stability via the BMP-Drosophila fragile X mental retardation protein-Futsch pathway. PMID: 23439121
8. SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2+ homeostasis PMID: 21559443
9. The present study identifies SPG20 promoter hypermethylation as a biomarker suitable for non-invasive detection of colorectal cancer, and a possible mechanism for cytokinesis arrest in colorectal tumorigenesis. PMID: 21499309
10. These data suggest that Ist1 interaction is important for spartin recruitment to the midbody and that spartin participates in cytokinesis. PMID: 20719964
11. Spartin acts as an adaptor protein that activates and recruits AIP4 E3 ubiquitin ligase to lipid droplets and by this means regulates the level of ubiquitination of adipophilin. PMID: 20504295
12. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.We report mapping of the TRS locus to chromosome 13q12.3 and identify a frameshift mutation in SPG20, encoding spartin PMID: 12134148
13. Our results suggest that spartin might be involved in endocytosis, vesicle trafficking, or mitogenic activity, and that impairment in one of these processes may underlie the long axonopathy in patients with Troyer syndrome. PMID: 16036216
14. This study provides the first evidence of spartin subcellular localization and identifies it as the third mitochondrial protein implicated in hereditary spastic paraplegia. PMID: 16945107
15. overexpression of spartin results in a prominent decrease in EGFR degradation PMID: 17332501
16. We describe a new family with Troyer syndrome due to the 1110delA mutation. PMID: 18413476
17. experiments suggest functions for ubiquitin ligases and SPG20 in the regulation of lipid droplet turnover and potential pathological mechanisms in Troyer syndrome. PMID: 19307600
18. SPG20 interacts with endosomes and AIP4 and AIP5. PMID: 19580544
19. The hereditary spastic paraplegia proteins NIPA1, spastin and spartin inhibit BMP signalling by promoting BMP receptors degradation. PMID: 19620182

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HGNC: 18514

OMIM: 275900

KEGG: hsa:23111

STRING: 9606.ENSP00000347314

UniGene: Hs.440414