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The cyclic nucleotide binding sites of Swiss-Cheese, the <i>Drosophila</i> orthologue of human PNPLA6, are required for its catalytic function

2025-12-13

Abstract excerpt

Mutations in Swiss-cheese (SWS) or its vertebrate ortholog PNLPA6, also called Neuropathy Target Esterase (NTE), cause progressive neuronal degeneration in Drosophila and mice and several complex syndromes in humans. These include mental retardation, spastic paraplegia, ataxia and blindness and several other symptoms. SWS and PNPLA6 are widely expressed in neurons and in several glial cell types in Drosophila an...

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Literature Corpus work
f3426de3-fd8f-5138-a159-32ec7b5c43c4
DOI
10.64898/2025.12.10.693492
Open publication

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