Results 21 to 30 of about 1,665,599 (197)

Somatic role of SYCE2: an insulator that dissociates HP1α from H3K9me3 and potentiates DNA repair

Life Science Alliance, 2018
This study reveals that the synaptonemal complex protein SYCE2 potentiates ataxia telangiectasia mutated–mediated DNA double-strand break repair by dissociating HP1α from trimethylated histone H3 lysine 9 in somatic cells.
Noriko Hosoya, Masato Ono, Kiyoshi Miyagawa   +2 more
doaj   +1 more source

ATM (ataxia telangiectasia mutated) [PDF]

, 1998
Review on ATM (ataxia telangiectasia mutated), with data on DNA, on the protein encoded, and where the gene is ...
Huret, JL
core   +1 more source

Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia [PDF]

, 2020
BackgroundAtaxia Telangiectasia (A-T) is an inherited multisystem disorder with cerebellar neurodegeneration. The relationships between imaging metrics of cerebellar health and neurological function across childhood in A-T are unknown, but may be ...
Prasad, Manish, Cooper, Andrew D, Chow, Gabriel, Dineen, Rob A, Whitehouse, William P, Hack, Lorna, Cooper, Andrew D., Dineen, Rob A., Raschke, Felix, Pszczolkowski, Stefan, Auer, Dorothee P, McGlashan, Hannah L., Whitehouse, William P., Auer, Dorothee P., McGlashan, Hannah L   +14 more
core   +1 more source

Ataxia-telangiectasia mutated protein protects cardiac cells from stress by rewiring glucose metabolism [PDF]

European Heart Journal, 2020
Abstract Introduction Pressure overload-induced cardiac hypertrophy is associated with increased reactive oxygen species (ROS), inducing DNA damage and activating the protein kinase Ataxia-Telangiectasia Mutated (ATM).
Paolillo, Roberta, Boccella, Nicola, Caterino, Marianna, D'Apice, Stefania, Pezone, Antonio, Esposito, Giovanni, Ruoppolo, Margherita, Avvedimento, Vittorio Enrico, Perrino, Cinzia   +8 more
openaire   +2 more sources

Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signalled to DNA damage by Ataxia Telangiectasia Mutated kinase [PDF]

Human Molecular Genetics, 2019
ABSTRACT Spinocerebellar Ataxia Type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by a polyglutamine expansion in the ataxin-1 protein. Recent genetic correlational studies have implicated DNA damage repair pathways in modifying the age at onset of disease symptoms in SCA1 and Huntington’s ...
Suart, Celeste, Perez, Alma M., Al-Ramahi, Ismael, Maiuri, Tamara, Botas, Juan, Truant, Ray   +5 more
openaire   +2 more sources

Progress towards a clinically-successful ATR inhibitor for cancer therapy

Current Research in Pharmacology and Drug Discovery, 2021
The DNA damage response (DDR) is now known to play an important role in both cancer development and its treatment. Targeting proteins such as ATR (Ataxia telangiectasia mutated and Rad3-related) kinase, a major regulator of DDR, has demonstrated ...
Francis M. Barnieh, Paul M. Loadman, Robert A. Falconer   +2 more
doaj   +1 more source

Ataxia‐telangiectasia‐mutated protein expression with microsatellite instability in gastric cancer as prognostic marker [PDF]

International Journal of Cancer, 2013
The prognostic significance of ataxia‐telangiectasia‐mutated (ATM) expression in gastric cancer remains unclear. The functional loss of ATM gene exhibits a biologic correlation with microsatellite instability (MSI). In this study, we investigated the significance of ATM expression with MSI by evaluating gastric cancer patients who had underwent ...
Jin Won, Kim, Seock-Ah, Im, Min A, Kim, Hyun Jin, Cho, Dae Won, Lee, Kyung-Hun, Lee, Tae-Yong, Kim, Sae-Won, Han, Do-Youn, Oh, Hyuk-Joon, Lee, Tae-You, Kim, Han-Kwang, Yang, Woo Ho, Kim, Yung-Jue, Bang   +13 more
openaire   +2 more sources

514 ATAXIA TELANGIECTASIA MUTATED PROTEIN MODULATES GLUCOSE AND LIPID METABOLISM IN THE HEART

European Heart Journal Supplements, 2022
Abstract Background Ataxia Telangiectasia Mutated (ATM) protein kinase is the major sensor of DNA damage response (DDR) and oxidative stress, variously implicated in cellular metabolism. Previous studies on ATM functions in the heart have produced conflicting results.
Paolillo, Roberta, D ́apice, Stefania, Caterino, Marianna, Pezone, Antonio, Iole, Danila, Polese, Pina, Pentella, Tommaso, Ruoppolo, Margherita, Enrico, Avvedimento Vittorio, Esposito, Giovanni, Perrino, Cinzia   +10 more
openaire   +2 more sources

Investigations into the molecular effects of single nucleotide polymorphism [PDF]

, 2000
Objectives: DNA sequences are very rich in short repeats and their pattern can be altered by point mutations. We wanted to investigate the effect of single nucleotide polymorphism (SNP) on the pattern of short DNA repeats and its biological consequences.
Lohrer, Horst D., Tangen, Uwe, Lohrer, H.D., Tangen, U.   +3 more
core   +1 more source

Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3. [PDF]

PLoS Genetics, 2015
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an untreatable autosomal dominant neurodegenerative disease, and the most common such inherited ataxia worldwide.
Rui Gao, Yongping Liu, Anabela Silva-Fernandes, Xiang Fang, Adriana Paulucci-Holthauzen, Arpita Chatterjee, Hang L Zhang, Tohru Matsuura, Sanjeev Choudhary, Tetsuo Ashizawa, Arnulf H Koeppen, Patricia Maciel, Tapas K Hazra, Partha S Sarkar   +13 more
doaj   +1 more source