VPS13A Antibody

1. Expression of cancer-specific glycan epitopes represents an excellent opportunity for diagnostics and potentially specific detection of tumors. Here, we report four proteins (LIFR, CE350, VP13A, HPT) found in sera from pancreatic cancer patients carrying aberrant glycan structures as compared to those of controls. PMID: 28244758
2. These results suggest that PI3P regulates the functioning of Vps13, both in protein trafficking and actin cytoskeleton organization. Attenuation of PI3P-binding ability in the mutant hVps13A protein may be one of the reasons for its mislocalization and disrupted function in cells of patients suffering from chorea-acanthocytosis . PMID: 28334785
3. Chorein is a stimulator of Orai1 expression and thus of store operated Ca2+ entry. PMID: 27960157
4. Patients with chorea-acanthocytosis carrying a VPS13A mutation present with focal, treatment-resistant seizures. PMID: 26813249
5. Defective chorein is accompanied by significant structural disorganization of all cytoskeletal structures. PMID: 26316086
6. VPS13A-depleted cells showed accumulation of autophagic markers and impaired autophagic flux PMID: 25996471
7. Chorein is expressed in various cancer cells. In cells with high chorein expression levels chorein silencing promotes apoptotic cell death, an effect paralleled by down-regulation of PI-3K activity and BCL-2/Bax expression ratio. PMID: 25871399
8. Discovery of new mutations may clarify the pathogenic roles of chorein in chorea-acanthocytosis as well as in the retina PMID: 23746940
9. chorein interacts with beta-adducin and beta-actin. PMID: 24129186
10. Data indicate functions of chorein, i.e., regulation of secretion and aggregation of blood platelets. PMID: 23568775
11. This study demonistrated that neuroacanthocytosis disorders has heterozygotes for mutations in the VPS13A gene. PMID: 22038564
12. Results reveal chorein as a novel powerful regulator of cytoskeletal architecture and cell survival, thus explaining erythrocyte misshape and possibly neurodegeneration in chorea-acanthocytosis. PMID: 22227296
13. these results suggest that chorein is involved in exocytosis of dense-core vesicles. PMID: 22366033
14. Frameshift mutations of VPS genes and losses of expression of Vps13A and Vps35 proteins are common in gastric cancers and colorectal cancers with high microsatellite instability. PMID: 21733561
15. identified 36 pathogenic mutations of VPS13A, 20 of which were previously unreported, including two novel copy number variations PMID: 21598378
16. A mutation was identified in the VPS13A gene, responsible for autosomal recessive chorea-acanthocytosis. PMID: 21987550
17. Founder mutation and single-nucleotid epolymorphisms in chorea-acanthocytosis in French-Canadians. PMID: 15918062
18. The index patient was homozygous for a 3889C>T nonsense mutation in the VPS13A gene and presented with a typical ChAc phenotype. PMID: 17673232
19. A Mexican family, two sister, after mutation screening of the VPS13A gene revealed homozygosity for the frameshift mutation c.3556_3557dupAC in exon 33. PMID: 17998451

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HGNC: 1908

OMIM: 200150

KEGG: hsa:23230

STRING: 9606.ENSP00000353422

UniGene: Hs.459790