PPT1

(redirected from CLN1)
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PPT1

A gene on chromosome 1p32 that encodes palmitoyl-protein thioesterase 1, a small glycoprotein enzyme that removes thioester-linked fatty acyl groups such as palmitate from cysteine residues.

Molecular pathology
PPT1 mutations are linked to neuronal ceroid lipofuscinosis types 1 and 4.
References in periodicals archive ?
May 21, 2019: Announced FDA clearance of Investigational New Drug application for ABO-202 AAV9 gene therapy in CLN1 disease
The Company's portfolio of AAV9-based gene therapies also features ABO-202 and ABO-201 for CLN1 disease and CLN3 disease, respectively.
CLN1 mice recapitulate the major features of the human disease manifestations;
o The data demonstrate that a single intrathecal (IT) injection of self-complementary adeno- associated virus 9 (scAAV9) encoding the human CLN1 gene to CLN1 mice at 1 week and 1 month (pre-symptomatic) significantly increased their survival, improved behavior and reduced motor deficits.
Infantile neuronal ceroid lipofuscinosis (INCL) is a severe lysosomal disease caused by mutations in the CLN1 gene, which encodes the soluble lysosomal enzyme Palmitoyl- Protein-Thioesterase-1 (PPT1) and result in osmiophilic granules accumulating in lysosomes and leading to neuroinflammation, neurodegeneration and death.
Samples from patients with CLN1 displayed activities that were <3% of the mean for the controls, i.e., values that were 10-fold lower than the lowest control value.
In conclusion, this new method allows the rapid and accurate determination of PPT1 and TPP1 activities from dried blood samples and a clear differentiation between healthy individuals, patients with neuronal ceroid lipofuscinoses (CLN1 and CLN2), and heterozygous carriers.
Detection of eight novel palmitoyl protein thicesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL; CLN1).
CLN1 disease, also known as Infantile Neuronal Ceroid Lipofuscinosis or infantile Batten disease, is a rapidly-progressing rare lysosomal storage disease with no approved treatment.
ABO-202 is a novel, one-time AAV9 gene therapy for patients with CLN1 disease, a rapidly-progressing rare lysosomal storage disease with no approved therapy.
Abeona Therapeutics announced that the FDA has granted Rare Pediatric Disease Designation for the ABO-202 program, an AAV-based gene therapy for the treatment of CLN1 disease.