Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23860
Abstract: Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive condition caused by variants in the TPP1 gene, leading to deficient activity of the lysosomal enzyme tripeptidyl peptidase I (TPP1). We update on the… read more here.
Keywords: tpp1; neuronal ceroid; disease; ceroid lipofuscinosis ... See more keywords
A mouse mutant deficient in both neuronal ceroid lipofuscinosis-associated proteins CLN3 and TPP1.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of inherited metabolic disease"
DOI: 10.1002/jimd.12619
Abstract: Late-infantile neuronal ceroid lipofuscinosis (LINCL) and juvenile neuronal ceroid lipofuscinosis (JNCL) are inherited neurodegenerative diseases caused by mutations in the genes encoding lysosomal proteins tripeptidyl peptidase 1 (TPP1) and CLN3 protein, respectively. TPP1 is well-understood… read more here.
Keywords: cln3; ceroid lipofuscinosis; tpp1; cln3 tpp1 ... See more keywords
TPP1 OB-fold domain protein suppresses cell proliferation and induces cell apoptosis by inhibiting telomerase recruitment to telomeres in human lung cancer cells
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Cancer Research and Clinical Oncology"
DOI: 10.1007/s00432-019-02921-3
Abstract: PurposeMaintaining telomeres by recruiting telomerase-to-chromosome ends is essential for cancer cell survival. Inhibiting telomerase recruitment to telomeres represents a novel strategy for telomere-based lung cancer therapy. However, approaches for interrupting telomerase recruitment for cancer therapy… read more here.
Keywords: telomerase recruitment; tpp1; lung cancer; cancer cells ... See more keywords
An AAV variant selected through NHP screens robustly transduces the brain and drives secreted protein expression in NHPs and mice.
Sign Up to like & getrecommendations! Published in 2025 at "Science translational medicine"
DOI: 10.1126/scitranslmed.adr2531
Abstract: Recent work has shown that prolonged expression of recombinant proteins after adeno-associated virus (AAV)-mediated delivery of gene therapy to long-lived, ventricle-lining ependymal cells can profoundly affect disease phenotypes in animal models of neurodegenerative diseases. Here,… read more here.
Keywords: mice; aav; brain; tpp1 ... See more keywords
Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics
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DOI: 10.3390/ijms26115037
Abstract: CLN2 disease (neuronal ceroid lipofuscinosis type 2) is an ultra-rare lysosomal storage disorder caused by mutations in the TPP1/CLN2 gene, resulting in impaired tripeptidyl peptidase 1 (TPP1) activity. The timely initiation of enzyme replacement therapy… read more here.
Keywords: tpp1 mutation; cln2; tpp1; mutation detection ... See more keywords