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.
Up-regulation of SPG20 expression brought about by trisomy 13 in colon cancer cells trisomy 13 amniocytes is sufficient for the cytokinesis failure phenotype.
Spartin regulates both synaptic development and neuronal survival by controlling microtubule stability via the BMP-Drosophila fragile X mental retardation protein-Futsch pathway.
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.
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.
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.
experiments suggest functions for ubiquitin ligases and SPG20 in the regulation of lipid droplet turnover and potential pathological mechanisms in Troyer syndrome.
This study provides the first evidence of spartin subcellular localization and identifies it as the third mitochondrial protein implicated in hereditary spastic paraplegia.
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.
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
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