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Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder
European Journal of Medical Genetics, 2021RNA sequencing (RNAseq) is emerging as a complementary tool to DNA sequencing, providing utility in diagnosis for disorders such as neuronal ceroid lipofuscinosis CLN2 disease. We describe an individual with a presentation suggestive of an attenuated CLN2 phenotype, including a history of regression, recent-onset microcephaly and spasticity from age ...
Guy Helman +10 more
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An N-terminal Flag-tag impairs TPP1 regulation of telomerase function
Biochemical and Biophysical Research Communications, 2019The shelterin protein complex protects natural chromosome ends from being recognized as DNA damage sites and also regulates the synthesis of telomeric repeats by telomerase. TPP1, a shelterin subunit that is essential for telomerase extension of telomeres, has been studied intensively in recent years.
Ranjodh Sandhu, Lifeng Xu, Derek Wei
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TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia
Neurology, 2015Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative disorders characterized by lysosomal ceroid deposition. Historically, NCLs were classified by onset age and electron microscopy abnormalities as infantile, late infantile, juvenile, and adult.1,2 Molecular techniques have broadened diagnostic subgroups with identification of at least 13 NCL ...
Marisela E, Dy +2 more
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TPP1 is a homologue of ciliate TEBP-β and interacts with POT1 to recruit telomerase
Nature, 2007Telomere dysfunction may result in chromosomal abnormalities, DNA damage responses, and even cancer. Early studies in lower organisms have helped to establish the crucial role of telomerase and telomeric proteins in maintaining telomere length and protecting telomere ends.
Huawei, Xin +7 more
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Fission Yeast Pot1-Tpp1 Protects Telomeres and Regulates Telomere Length
Science, 2008Telomeres are specialized chromatin structures that protect chromosomal ends. Protection of telomeres 1 (Pot1) binds to the telomeric G-rich overhang, thereby protecting telomeres and regulating telomerase. Mammalian POT1 and TPP1 interact and constitute part of the six-protein shelterin complex.
Tomoichiro, Miyoshi +3 more
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Human Telomere POT1-TPP1 Complex and Its Role in Telomerase Activity Regulation
2011Telomeres, the specialized DNA-protein complexes found at the termini of all linear eukaryotic -chromosomes, protect chromosomes from degradation and end-to-end fusion. The protection of telomeres 1 (POT1) protein binds the single-stranded overhang at the ends of chromosomes in diverse eukaryotes.
Feng, Wang, Ming, Lei
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POT1–TPP1 enhances telomerase processivity by slowing primer dissociation and aiding translocation
EMBO Journal, 2010Thomas Cech
exaly