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   Articles with "vps13a" as a keyword



Chorein deficiency promotes ferroptosis

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recommendations! Published in 2024 at "FEBS Open Bio"

DOI: 10.1002/2211-5463.13870

Abstract: Ferroptosis is a type of programmed cell death owed to an intracellular accumulation of iron resulting in the generation reactive oxygen species, which in turn can cause peroxidation of plasma membrane lipids and ultimately result… read more here.

Keywords: vps13a; chorein deficiency; chorein; ferroptosis ... See more keywords

Requirement of Xk and Vps13a for the P2X7-mediated phospholipid scrambling and cell lysis in mouse T cells

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recommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"

DOI: 10.1073/pnas.2119286119

Abstract: Significance The extracellular concentration of adenosine triphosphate (ATP) reaches several hundred micromoles in the inflamed tissues or tumor environment. A high concentration of ATP activates P2X7, a purinergic receptor, and induces the formation of a… read more here.

Keywords: cell lysis; ptdser; p2x7; vps13a ... See more keywords

The association of lipid transfer protein VPS13A with endosomes is mediated by sorting nexin SNX5

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recommendations! Published in 2023 at "Life Science Alliance"

DOI: 10.26508/lsa.202201852

Abstract: Binding of sorting nexin SNX5 to the VAB domain of VPS13A mediates its recruitment to membrane contact sites between SNX5-containing endosomal membranes, mitochondria, and ER. Human VPS13 proteins are implicated in severe neurological diseases. These… read more here.

Keywords: nexin snx5; snx5; sorting nexin; vps13a ... See more keywords

Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation

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recommendations! Published in 2019 at "Frontiers in Neurology"

DOI: 10.3389/fneur.2018.01168

Abstract: Chorea-acanthocytosis (ChAc) is a rare, adult-onset disease usually characterized by, hence the name, a movement disorder and acanthocytosis in the blood. It is caused by mutations of the VPS13A gene with an autosomal recessive transmission.… read more here.

Keywords: epilepsy; vps13a; family; autosomal recessive ... See more keywords

A Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary

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recommendations! Published in 2025 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms262311521

Abstract: VPS13A disease is a rare, autosomal-recessive, neurodegenerative disorder characterized by involuntary movements, orofacial dystonia, seizures, psychiatric symptoms, and the presence of spiky, deformed red blood cells (acanthocytes). The disease is caused by mutations in the… read more here.

Keywords: disease; deletion; vps13a; patient mother ... See more keywords