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The protein encoded by VPS13A may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane.
Showing 6 out of 7 products:
Human Polyclonal VPS13A Primary Antibody for ELISA, IF - ABIN347141
Saiki, Sakai, Murata, Saiki, Nakanishi, Kitagawa, Kaito, Gondo, Kumamoto, Matsui, Hattori, Hirose: Primary skeletal muscle involvement in chorea-acanthocytosis. in Movement disorders : official journal of the Movement Disorder Society 2007
Human Polyclonal VPS13A Primary Antibody for ICC, IF - ABIN4298102
Morisaki, Yashiro, Kakehashi, Inagaki, Kinoshita, Fukuoka, Kasashima, Masuda, Sakurai, Kubo, Muguruma, Ohira, Wanibuchi, Hirakawa: Comparative proteomics analysis of gastric cancer stem cells. in PLoS ONE 2014
Human Polyclonal VPS13A Primary Antibody for IHC, IHC (p) - ABIN4298101
Sasaki, Nakamura, Kodama, Urata, Shiokawa, Hayashi, Sano: Chorein interacts with α-tubulin and histone deacetylase 6, and overexpression preserves cell viability during nutrient deprivation in human embryonic kidney 293 cells. in FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2016
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 .
Chorein is a stimulator of Orai1 (show ORAI1 Antibodies) expression and thus of store operated Ca2 (show CA2 Antibodies)+ entry.
Patients with chorea-acanthocytosis carrying a VPS13A mutation present with focal, treatment-resistant seizures.
Defective chorein is accompanied by significant structural disorganization of all cytoskeletal structures.
VPS13A-depleted cells showed accumulation of autophagic markers and impaired autophagic flux
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 (show BCL2 Antibodies)/Bax (show BAX Antibodies) expression ratio.
Discovery of new mutations may clarify the pathogenic roles of chorein in chorea-acanthocytosis as well as in the retina
chorein interacts with beta-adducin (show ADD2 Antibodies) and beta-actin (show ACTB Antibodies).
Data indicate functions of chorein, i.e., regulation of secretion and aggregation of blood platelets.
This study demonistrated that neuroacanthocytosis disorders has heterozygotes for mutations in the VPS13A gene.
Mouse CHAC cDNA sequence and the exon-intron structures of the CHAC disease gene are identified and a CHAC model mouse produced by a gene-targeting technique.
Brain-specific (show CALY Antibodies) variants of VPS13A may be involved in the brain-specific (show CALY Antibodies) pathology of chorea-acanthocytosis.
The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants.
vacuolar protein sorting 13 homolog A
, vacuolar protein sorting 13A
, vacuolar protein sorting 13 homolog A (S. cerevisiae)
, chorea-acanthocytosis protein
, vacuolar protein sorting-associated protein 13A
, chorea-acanthocytosis protein homolog
, hypothetical protein