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Published in 2022 at "PLoS Biology"
DOI: 10.1371/journal.pbio.3001590
Abstract: Loss-of-function mutations in the depalmitoylating enzyme palmitoyl protein thioesterase 1 (PPT1) cause neuronal ceroid lipofuscinosis (NCL), a devastating neurodegenerative disease. The substrates of PPT1 are largely undescribed, posing a limitation on molecular dissection of disease…
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Keywords:
palmitoyl protein;
ppt1;
protein thioesterase;
disulfide bond ... See more keywords
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Published in 2019 at "Frontiers in Cellular Neuroscience"
DOI: 10.3389/fncel.2019.00092
Abstract: Palmitoyl-protein thioesterase 1 (PPT1) is a depalmitoylation enzyme that is mutated in cases of neuronal ceroid lipofuscinosis (NCL). The hallmarks of the disease include progressive neurodegeneration and blindness, as well as seizures. In the current…
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Keywords:
palmitoyl protein;
ppt1;
protein thioesterase;
thioesterase ppt1 ... See more keywords