| An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis). | An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis).
Ditzel RM Jr, Walker RH, Nirenberg MJ, Tetlow AM, Farrell K, Lind-Watson KJ, Thorn EL, Dangoor DK, Gordon R, De Sanctis C, Barton B, Karp BI, Kirby A, Lett DJ, Mente K, Simon DK, Velayos-Baeza A, Miltenberger-Miltenyi G, Humphrey J, Crary JF., | 12/22/2023 |
| Chorein sensitive microtubule organization in tumor cells. | Chorein sensitive microtubule organization in tumor cells.
Alkahtani S, Alkahtane AA, Stournaras C, Alarifi S., Free PMC Article | 09/29/2023 |
| Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s). | Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s).
Chaudhari S, Ware AP, Jasti DB, Gorthi SP, Acharya LP, Bhat M, Mallya S, Satyamoorthy K., Free PMC Article | 06/2/2023 |
| The association of lipid transfer protein VPS13A with endosomes is mediated by sorting nexin SNX5. | The association of lipid transfer protein VPS13A with endosomes is mediated by sorting nexin SNX5.
Tornero-Écija A, Zapata-Del-Baño A, Antón-Esteban L, Vincent O, Escalante R., Free PMC Article | 04/4/2023 |
| Interaction between VPS13A and the XK scramblase is important for VPS13A function in humans. | Interaction between VPS13A and the XK scramblase is important for VPS13A function in humans.
Park JS, Hu Y, Hollingsworth NM, Miltenberger-Miltenyi G, Neiman AM., Free PMC Article | 09/24/2022 |
| A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane. | A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane.
Guillén-Samander A, Wu Y, Pineda SS, García FJ, Eisen JN, Leonzino M, Ugur B, Kellis M, Heiman M, De Camilli P., Free PMC Article | 08/27/2022 |
| Structural and biochemical insights into lipid transport by VPS13 proteins. | Structural and biochemical insights into lipid transport by VPS13 proteins.
Adlakha J, Hong Z, Li P, Reinisch KM., Free PMC Article | 04/23/2022 |
| XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome. | XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome.
Park JS, Neiman AM., Free PMC Article | 06/12/2021 |
| Translational study of the whole transcriptome in rats and genetic polymorphisms in humans identifies LRP1B and VPS13A as key genes involved in tolerance to cocaine-induced motor disturbances. | Translational study of the whole transcriptome in rats and genetic polymorphisms in humans identifies LRP1B and VPS13A as key genes involved in tolerance to cocaine-induced motor disturbances.
Vorspan F, Icick R, Mekdad N, Courtin C, Bloch V, Bellivier F, Laplanche JL, Prince N, Pishalin D, Firmo C, Blugeon C, Mégarbane B, Marie-Claire C, Benturquia N., Free PMC Article | 05/22/2021 |
| TBC1D1 interacting proteins, VPS13A and VPS13C, regulate GLUT4 homeostasis in C2C12 myotubes. | TBC1D1 interacting proteins, VPS13A and VPS13C, regulate GLUT4 homeostasis in C2C12 myotubes.
Hook SC, Chadt A, Heesom KJ, Kishida S, Al-Hasani H, Tavaré JM, Thomas EC., Free PMC Article | 04/13/2021 |
| New pathogenic mutation of chorea-acanthocytosis.", trans "Nueva mutacion patogenica de corea-acantocitosis. | New pathogenic mutation of chorea-acanthocytosis.
Garrido-Fernández A, Santos-Lasaosa S, Bellosta-Diago E, Sáchez-Valiente S. | 01/9/2021 |
| The binding of the APT1 domains to phosphoinositides is regulated by metal ions in vitro. | The binding of the APT1 domains to phosphoinositides is regulated by metal ions in vitro.
Kolakowski D, Kaminska J, Zoladek T. | 12/5/2020 |
| Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis. | Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis.
Glaß H, Neumann P, Pal A, Reinhardt P, Storch A, Sterneckert J, Hermann A., Free PMC Article | 12/5/2020 |
| A novel nonsense p.Gln113* mutation in VPS13A identified by whole-exome sequencing, which caused Choreoacanthocytosis in a Moroccan family. | Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report.
Ouchkat F, Regragui W, Smaili I, Naciri Darai H, Bouslam N, Rahmani M, Melhaoui A, Arkha Y, El Fahime E, Bouhouche A., Free PMC Article | 05/9/2020 |
| We demonstrate that VPS13A is a peripheral membrane protein, associated with mitochondria, the endoplasmic reticulum and lipid droplets. VPS13A is localized at sites where the endoplasmic reticulum and mitochondria are in close contact | Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility.
Yeshaw WM, van der Zwaag M, Pinto F, Lahaye LL, Faber AI, Gómez-Sánchez R, Dolga AM, Poland C, Monaco AP, van IJzendoorn SC, Grzeschik NA, Velayos-Baeza A, Sibon OC., Free PMC Article | 04/4/2020 |
| human VPS13A and VPS13C bind to the ER, tethering it to mitochondria (VPS13A), to late endosome/lysosomes (VPS13C), and to lipid droplets (both VPS13A and VPS13C). | VPS13A and VPS13C are lipid transport proteins differentially localized at ER contact sites.
Kumar N, Leonzino M, Hancock-Cerutti W, Horenkamp FA, Li P, Lees JA, Wheeler H, Reinisch KM, De Camilli P., Free PMC Article | 09/28/2019 |
| VPS13A localizes at the interface between mitochondria-endosomes and mitochondria-endoplasmic reticulum and that the presence of membrane contact sites is altered in the absence of VPS13A. | VPS13A is closely associated with mitochondria and is required for efficient lysosomal degradation.
Muñoz-Braceras S, Tornero-Écija AR, Vincent O, Escalante R., Free PMC Article | 08/17/2019 |
| Even though these are long noted disease conditions, we still know only little on the underlying disease mechanisms. The current review focuses upon Chorea-Acanthocytosis as the core entity of Neuroacanthocytosis syndromes caused by mutations in the VPS13A gene | Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.
Peikert K, Danek A, Hermann A. | 02/23/2019 |
| 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. | Glycosylation Changes in Serum Proteins Identify Patients with Pancreatic Cancer.
Drabik A, Bodzon-Kulakowska A, Suder P, Silberring J, Kulig J, Sierzega M. | 10/21/2017 |
| 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 . | Amino acid substitution equivalent to human chorea-acanthocytosis I2771R in yeast Vps13 protein affects its binding to phosphatidylinositol 3-phosphate.
Rzepnikowska W, Flis K, Kaminska J, Grynberg M, Urbanek A, Ayscough KR, Zoladek T., Free PMC Article | 05/20/2017 |
| Chorein is a stimulator of Orai1 expression and thus of store operated Ca2+ entry. | Chorein Sensitive Orai1 Expression and Store Operated Ca2+ Entry in Rhabdomyosarcoma Cells.
Yu W, Honisch S, Schmidt S, Yan J, Schmid E, Alkahtani S, AlKahtane AA, Alarifi S, Stournaras C, Lang F. | 02/18/2017 |
| Patients with chorea-acanthocytosis carrying a VPS13A mutation present with focal, treatment-resistant seizures. | Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.
Benninger F, Afawi Z, Korczyn AD, Oliver KL, Pendziwiat M, Nakamura M, Sano A, Helbig I, Berkovic SF, Blatt I. | 08/20/2016 |
| Defective chorein is accompanied by significant structural disorganization of all cytoskeletal structures. | Chorein Sensitive Arrangement of Cytoskeletal Architecture.
Honisch S, Gu S, Vom Hagen JM, Alkahtani S, Al Kahtane AA, Tsapara A, Hermann A, Storch A, Schöls L, Lang F, Stournaras C. | 05/28/2016 |
| VPS13A-depleted cells showed accumulation of autophagic markers and impaired autophagic flux | TipC and the chorea-acanthocytosis protein VPS13A regulate autophagy in Dictyostelium and human HeLa cells.
Muñoz-Braceras S, Calvo R, Escalante R., Free PMC Article | 04/23/2016 |
| 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. | Chorein addiction in VPS13A overexpressing rhabdomyosarcoma cells.
Honisch S, Yu W, Liu G, Alesutan I, Towhid ST, Tsapara A, Schleicher S, Handgretinger R, Stournaras C, Lang F., Free PMC Article | 03/19/2016 |