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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…
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Keywords:
tpp1;
neuronal ceroid;
disease;
ceroid lipofuscinosis ... See more keywords
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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…
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Keywords:
cln3;
ceroid lipofuscinosis;
tpp1;
cln3 tpp1 ... See more keywords
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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…
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Keywords:
telomerase recruitment;
tpp1;
lung cancer;
cancer cells ... See more keywords