AAV-delivered PPT1 provides long-term neurological benefits in CLN1 mice and achieves therapeutic levels in sheep brain [PDF]
Molecular TherapyCLN1 disease is a fatal neurodegenerative condition caused by deficiency in Palmitoyl-Protein Thioesterase 1 (PPT1), for which no disease-modifying therapy exists.
Md Suhail Alam, Maria Grazia Biferi
exaly +4 more sources
PPT1 Reduction Contributes to Erianin-Induced Growth Inhibition in Oral Squamous Carcinoma Cells [PDF]
Frontiers in Cell and Developmental Biology, 2021 The anticancer properties of erianin have been recently discovered. However, the antitumor effect of erianin in oral squamous cell carcinoma (OSCC) remains unclear.
Qingqiong Luo +5 more
doaj +3 more sources
Palmitoyl: Protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease [PDF]
Biochemical and Biophysical Research Communications, 2010 Competitive inhibitors of lysosomal hydrolases (pharmacological chaperones) have been used to treat some lysosomal storage diseases which result from mis-sense mutations and mis-folded protein but have not been tried in Batten disease, for which there is
Dawson, Glyn +2 more
core +6 more sources
Limited therapeutic efficacy of N-acetyl-L-leucine in a mouse model of CLN1 disease [PDF]
Scientific ReportsCLN1 disease, one of the most severe forms of neuronal ceroid lipofuscinosis (NCLs or Batten disease), is a rapidly progressing pediatric neurodegenerative disorder caused by mutations in the PPT1 gene.
Ewa A. Ziółkowska +10 more
doaj +2 more sources
Investigation of Ppt1 and other lysosomal storage disease genes during drosophila neurogenesis
The FASEB Journal, 2009 Infantile Neuronal Ceroid Lipofuscinoses (INCL) is a lysosomal storage disease caused by a defect in the Palmitoyl Protein Thioesterase 1 (PPT1) protein.
Blanchette, Cassandra R
core +2 more sources
Frontiers in Molecular Neuroscience, 2017 CLN1 disease (OMIM #256730) is an early childhood ceroid-lipofuscinosis associated with mutated CLN1, whose product Palmitoyl-Protein Thioesterase 1 (PPT1) is a lysosomal enzyme involved in the removal of palmitate residues from S-acylated proteins.
Alessandro Simonati +2 more
exaly +3 more sources
DNA methylation-regulated ZDHHC5 and PPT1 in the pathogenesis of osteoporosis. [PDF]
Medicine (Baltimore)While osteoporosis (OP) affects over 200 million people globally, the causal roles of protein palmitoylation and its upstream epigenetic regulation in the pathogenesis of the disease remain undefined.
Wang C, Zhu Y, Ruan Z.
europepmc +2 more sources
PLoS Biology, 2022 Loss-of-function mutations in the depalmitoylating enzyme palmitoyl protein thioesterase 1 (PPT1) cause neuronal ceroid lipofuscinosis (NCL), a devastating neurodegenerative disease.
Erica L Gorenberg +8 more
doaj +1 more source
PPT1 regulation of HSP90α depalmitoylation participates in the pathogenesis of hyperandrogenism
iScience, 2023 Ovarian granulosa cells (GCs) in the follicle are the important mediator of steroidogenesis and foster oocyte maturation. Evidences suggested that the function of GCs could be regulated by S-palmitoylation. However, the role of S-palmitoylation of GCs in ovarian hyperandrogenism remains elusive.
Tongmin Xue +13 more
openaire +3 more sources
The phosphatase Ppt1 is a dedicated regulator of the molecular chaperone Hsp90 [PDF]
The EMBO Journal, 2006 Ppt1 is the yeast member of a novel family of protein phosphatases, which is characterized by the presence of a tetratricopeptide repeat (TPR) domain. Ppt1 is known to bind to Hsp90, a molecular chaperone that performs essential functions in the folding and activation of a large number of client proteins.
Sebastian K, Wandinger +3 more
openaire +2 more sources