Genetics of human telomere biology disorders

P Revy, C Kannengiesser, AA Bertuch - Nature Reviews Genetics, 2023 - nature.com
Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …

Shaping human telomeres: from shelterin and CST complexes to telomeric chromatin organization

CJ Lim, TR Cech - Nature Reviews Molecular Cell Biology, 2021 - nature.com
The regulation of telomere length in mammals is crucial for chromosome end-capping and
thus for maintaining genome stability and cellular lifespan. This process requires …

Structural biology of telomeres and telomerase

EM Smith, DF Pendlebury, J Nandakumar - Cellular and Molecular Life …, 2020 - Springer
Telomeres are protein–DNA complexes that protect chromosome ends from illicit ligation
and resection. Telomerase is a ribonucleoprotein enzyme that synthesizes telomeric DNA to …

Telomere length and oxidative stress and its relation with metabolic syndrome components in the aging

G Gavia-García, J Rosado-Pérez, TL Arista-Ugalde… - Biology, 2021 - mdpi.com
Simple Summary A link between telomere length and some age-related diseases has been
identified, including metabolic syndrome. So far, there is no mechanism to explain the origin …

Molecular mechanisms of telomere biology disorders

S Grill, J Nandakumar - Journal of Biological Chemistry, 2021 - ASBMB
Genetic mutations that affect telomerase function or telomere maintenance result in a variety
of diseases collectively called telomeropathies. This wide spectrum of disorders, which …

[HTML][HTML] POT1-TPP1 telomere length regulation and disease

T Aramburu, S Plucinsky, E Skordalakes - Computational and Structural …, 2020 - Elsevier
Telomeres are DNA repeats at the ends of linear chromosomes and are replicated by
telomerase, a ribonucleoprotein reverse transcriptase. Telomere length regulation and …

TIN2 functions with TPP1/POT1 to stimulate telomerase processivity

AM Pike, MA Strong, JPT Ouyang… - Molecular and cellular …, 2019 - Am Soc Microbiol
ABSTRACT TIN2 is an important regulator of telomere length, and mutations in TINF2, the
gene encoding TIN2, cause short-telomere syndromes. While the genetics underscore the …

[HTML][HTML] The N terminus of the OB domain of telomere protein TPP1 is critical for telomerase action

S Grill, VM Tesmer, J Nandakumar - Cell reports, 2018 - cell.com
Telomerase recruitment to telomeres and enzymatic processivity are mediated by TPP1, an
essential component of telomere integrity and telomerase function. A surface on the OB …

Structural biology of telomerase and its interaction at telomeres

Y Wang, J Feigon - Current opinion in structural biology, 2017 - Elsevier
Highlights•First cryo-EM structure of telomerase, from Tetrahymena, at∼ 9 Å resolution.•New
TERT and TER domain structures and interactions.•RPA-like proteins bridge the telomerase …

CTC1‐STN1 coordinates G‐and C‐strand synthesis to regulate telomere length

P Gu, S Jia, T Takasugi, E Smith, J Nandakumar… - Aging …, 2018 - Wiley Online Library
Coats plus (CP) is a rare autosomal recessive disorder caused by mutations in CTC 1, a
component of the CST (CTC 1, STN 1, and TEN 1) complex important for telomere length …