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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.
Study identified mutation in SPG20 as the disease causing mutation for Troyer Syndrome in Turkish siblings.
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 (show FMR1 ELISA Kits)-Futsch (show MAP1B ELISA Kits) pathway.
SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2 (show CA2 ELISA Kits)+ homeostasis
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.
These data suggest that Ist1 (show IST1 ELISA Kits) interaction is important for spartin recruitment to the midbody and that spartin participates in cytokinesis.
Spartin acts as an adaptor protein that activates and recruits AIP4 (show ITCH ELISA Kits) E3 ubiquitin ligase to lipid droplets and by this means regulates the level of ubiquitination of adipophilin (show PLIN2 ELISA Kits).
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.We report mapping of the TRS (show TARS ELISA Kits) locus to chromosome 13q12.3 and identify a frameshift mutation in SPG20, encoding spartin
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.
Here we report the case of three patients of Filipino descent with Troyer syndrome. Whole exome sequencing (WES) identified a homozygous mutation c.364_365delAT which predicts p.Met122Valfs*2 in SPG20
findings evidence a positive correlation between SIRT1 (show SIRT1 ELISA Kits) and BCL6 (show BCL6 ELISA Kits) expression increase in follicular lymphomas (FL) . SIRT1 (show SIRT1 ELISA Kits) methylation decreases in FL and diffuse large-B cell lymphomas (DLBCL)and this parallels the increase of KLF4 (show KLF4 ELISA Kits), DAPK1 (show DAPK1 ELISA Kits) and SPG20 methylation
spartin, via the ubiquitin-binding region, binds Lys-63-linked ubiquitin chains but does not bind Lys-48-linked ubiquitin chains. spartin's role in DALIS formation depends on key residues within its ubiquitin-binding region.
alsin (show ALS2 ELISA Kits) and spartin may interact each other physically
a role for spartin in lipid droplets maintenance and in the regulation of cytokinesis
This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome).
, spastic paraplegia 20 (Troyer syndrome) homolog
, spastic paraplegia 20, spartin (Troyer syndrome) homolog
, trans-activated by hepatitis C virus core protein 1