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The role of VPS13A in the endolysosomal and autophagic pathways

AuthorsMuñoz-Braceras, Sandra ; Tornero, Alba Rocío; Vincent, Olivier ; Escalante, Ricardo
Issue Date2018
Citation9th International Meeting on Neuroacanthocytosis Syndromes (2018)
AbstractVPS13 proteins are a group of conserved proteins whose mutations lead to the appearance or elevated risk of various diseases. Particularly, VPS13A mutations cause chorea-acanthocytosis, a rare neurodegenerative disorder, for which available treatments are not able to modify disease progression. Human VPS13A and other members of the VPS13 family have been implicated in autophagy and other cellular processes; however, their molecular functions and the mechanistic details of their participation in these processes are still unknown. We propose that the function of VPS13 in autophagy is part of a more general role in intracellular trafficking. This idea is supported by the altered pattern of several proteins involved at distinct steps of vesicledependent trafficking processes in human cells lacking VPS13A and other findings in the simple model organism Dictyostelium discoideum. Moreover, human and D. discoideum VPS13 proteins interact with a key player in intracellular trafficking regulation. In addition, new avenues to explore the exact role of VPS13 proteins in autophagy come from elucidation of VPS13A subcellular localization. Altogether, our findings provide the identification of potential targets that should be considered for the development of therapies for chorea-acanthocytosis.
DescriptionResumen del trabajo presentado al 9th International Meeting on Neuroacanthocytosis Syndromes, celebrado en Dresden (Alemania) del 23 al 25 de marzo de 2018.
Appears in Collections:(IIBM) Comunicaciones congresos
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