Articles with "vps13a" as a keyword



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

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

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

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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