
Emily Banks
Articles
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Aug 21, 2024 |
nature.com | Emily Banks |Sheng-Jia Lin |Vladimir S. Fonov |Maxime Lévesque |Armin Bayati |Fowzan S. Alkuraya | +28 more
AbstractDevelopmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a membrane trafficking protein, and develop animal models with phenotypes like the human syndrome.
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Jan 31, 2024 |
nature.com | Rahul Kumar |Maleeha Khan |Adriana Aguila |Emily Banks
AbstractLysosomes help maintain cellular proteostasis, and defects in lysosomal positioning and function can cause disease, including neurodegenerative disorders. The spatiotemporal distribution of lysosomes is regulated by small GTPases including Rabs, which are activated by guanine nucleotide exchange factors (GEFs).
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