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- W2791438032 abstract "Abstract The neuronal ceroid lipofuscinoses (NCLs) are a group of fatal, monogenic neurodegenerative disorders with an early onset in infancy or childhood. Despite identification of the genes disrupted in each form of the disease, their normal cellular role and how their deficits lead to disease pathology is not fully understood. Cln7, a major facilitator superfamily domain-containing protein, is affected in a late infantile-onset form of NCL. Using the Drosophila larval neuromuscular junction as a model to study neural development, we demonstrate that Cln7 is required for the normal growth of synapses. In a Cln7 mutant, synapses fail to develop fully leading to reduced function and behavioral changes with dysregulation of TOR activity. Cln7 expression is restricted to the post-synaptic cell and the protein localizes to vesicles immediately adjacent to the post-synaptic membrane. Our data suggest an involvement for Cln7 in regulating trans-synaptic communication." @default.
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- W2791438032 date "2018-03-08" @default.
- W2791438032 modified "2023-09-23" @default.
- W2791438032 title "The neuronal ceroid lipofuscinosis protein Cln7 regulates neural development from the post-synaptic cell" @default.
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- W2791438032 doi "https://doi.org/10.1101/278895" @default.
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