The Shelterin complex protein TPP1 interacts with human telomerase (TERT) by means of the TEL-patch region, controlling telomere homeostasis. Aberrations in the TPP1-TERT heterodimer formation might lead to short telomeres and severe diseases like ...
Simone Aureli +3 more
doaj +2 more sources
Structural and functional analysis of the human POT1-TPP1 telomeric complex [PDF]
POT1 and TPP1 are part of the shelterin complex and are essential for telomere length regulation and maintenance. Naturally occurring mutations of the telomeric POT1–TPP1 complex are implicated in familial glioma, melanoma and chronic lymphocytic ...
Duncan M. Baird +27 more
core +7 more sources
Dynamic peptides of human TPP1 fulfill diverse functions in telomere maintenance. [PDF]
Telomeres are specialized nucleoprotein complexes that comprise the ends of linear chromosomes. Human telomeres end in a short, single-stranded DNA (ssDNA) overhang that is recognized and bound by two telomere proteins, POT1 and TPP1.
de la Fuente, Maria +6 more
core +6 more sources
Mutational profiling of POT1 gene and its interaction with TPP1 in cancer- A computational approach [PDF]
Telomeres are specialized structures at the end of eukaryotic chromosomes that maintain genomic stability by preventing chromosomal rearrangements and thereby enabling semi-conservative replication of telomeric DNA.
Priyanjali Bhattacharya +7 more
doaj +3 more sources
Structural insights into POT1-TPP1 interaction and POT1 C-terminal mutations in human cancer
Human telomeres are protected by a specialized shelterin complex composed of six proteins. Here the authors structurally characterize the interaction between the POT1-TPP1 shelterin component and identify mutations associated with genome instability and ...
Cong Chen +19 more
doaj +2 more sources
Zebrafish as a model system to study the physiological function of telomeric protein TPP1.
Telomeres are specialized chromatin structures at the end of chromosomes. Telomere dysfunction can lead to chromosomal abnormalities, DNA damage responses, and even cancer.
Yiying Xie +3 more
doaj +3 more sources
GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice [PDF]
The cellular etiology of seizures in CLN2 disease, a childhood-onset neurodegenerative lysosomal storage disorder caused by a deficiency of tripeptidyl peptidase 1 (TPP1), remains elusive.
Keigo Takahashi +13 more
doaj +2 more sources
Prognostic implications of high- OXPHOS macrophages in gastric cancer: a single-cell transcriptomics and tumor microenvironment communication study [PDF]
BackgroundGastric cancer (GC) is characterized by heterogeneous tumor microenvironment (TME) with various cell types contributing to disease progression and patient outcomes.
Ziyuan Lin +5 more
doaj +2 more sources
Different Faces of the Human Telomeric Protein TPP1
Eukaryotic cells must overcome two major biological problems associated with linear chromosomes: the end protection and the end replication problems. The end protection problem occurs when the natural ends of linear chromosomes are misrecognized as DNA ...
Grill, Sherilyn
core +6 more sources
Neuronal ceroid lipofuscinosis type 2 (CLN2) is an autosomal recessive neurodegenerative disease caused by variants in the TPP1 gene that lead to the deficiency of the lysosomal enzyme tripeptidyl peptidase I (TPP1) activity.
Sui-Bing Miao +7 more
doaj +1 more source

