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 ?
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.
We consider the dried blood tests for PPT1 and TPP1 a very useful approach to the diagnosis of CLN1 and CLN2.
In the proposed clinical trial, HuCNS-SC will be transplanted in the CLN1 and CLN2 patients in part to determine if the transplanted cells secrete the missing lysosomal enzymes in the brains of affected individuals.
NCLs are lysosomal storage disorders brought on by inherited genetic mutations in CLN1 gene, which codes for palmitoyl-protein thioesterase 1 (PPT1) and in the CLN2 gene, which codes for tripeptidyl peptidase I (TPP-I).