Cln3‐mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl‐protein thioesterases‐1 (Ppt1)‐protein and Ppt1‐enzyme activity in the lysosome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12106
Abstract: Mutations in at least 13 different genes (called CLNs) underlie various forms of neuronal ceroid lipofuscinoses (NCLs), a group of the most common neurodegenerative lysosomal storage diseases. While inactivating mutations in the CLN1 gene, encoding… read more here.
Keywords: palmitoyl protein; neuronal ceroid; ceroid; cln3 mutations ... See more keywords
First-in-human phase I, pharmacokinetic (PK), and pharmacodynamic (PD) study of oral GNS561, a palmitoyl-protein thioesterase 1 (PPT1) inhibitor, in patients with primary and secondary liver malignancies.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2021.39.15_suppl.e16175
Abstract: e16175 Background: GNS561 belongs to a novel generation of drug blocking cancer cell proliferation by inhibiting late-stage autophagy and dose-dependent accumulation of enlarged lysosomes by interacting with palmitoyl-protein thioesterase-1 (PPT1). Methods: This phase I, multicenter,… read more here.
Keywords: primary secondary; palmitoyl protein; liver; thioesterase ppt1 ... See more keywords
Identification of substrates of palmitoyl protein thioesterase 1 highlights roles of depalmitoylation in disulfide bond formation and synaptic function
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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… read more here.
Keywords: palmitoyl protein; ppt1; protein thioesterase; disulfide bond ... See more keywords
The Interactome of Palmitoyl-Protein Thioesterase 1 (PPT1) Affects Neuronal Morphology and Function
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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… read more here.
Keywords: palmitoyl protein; ppt1; protein thioesterase; thioesterase ppt1 ... See more keywords
Palmitoyl Protein Thioesterase 1 Is Essential for Myogenic Autophagy of C2C12 Skeletal Myoblast
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Physiology"
DOI: 10.3389/fphys.2020.569221
Abstract: Skeletal muscle differentiation is an essential process for the maintenance of muscle development and homeostasis. Reactive oxygen species (ROS) are critical signaling molecules involved in muscle differentiation. Palmitoyl protein thioesterase 1 (PPT1), a lysosomal enzyme,… read more here.
Keywords: palmitoyl protein; muscle differentiation; muscle; protein thioesterase ... See more keywords