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Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders.

Gene - 20 Mar 2024

Sultan Tipu, Scorrano Giovanna, Panciroli Marta, Christoforou Marilena, Raza Alvi Javeria, Di Ludovico Armando, Qureshi Sameen, Efthymiou Stephanie, Salpietro Vincenzo, Houlden Henry

Abstract excerpt

BACKGROUND: The VPS13 family of proteins has been implicated in lipid transport and trafficking between endoplasmic reticulum and organelles, to maintain homeostasis of subcellular membranes. Recently, pathogenic variants in each human VPS13S gene, have been linked to distinct human neurodevelopmental or neurodegenerative disorders. Within the VPS13 family of genes, VPS13D is known to be implicated in...

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PMID: 38160741
DOI: 10.1016/j.gene.2023.148119

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