Article
Cell Biology
Maria Likhatcheva, Roben G. Gieling, James A. L. Brown, Constantinos Demonacos, Kaye J. Williams
Summary: Genotoxic stress can activate the ATM kinase, with potential involvement of Suv39H1 and Tip60 in ATM activation under hypoxic conditions.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Laura A. Huff, Shan Yan, Mark G. Clemens
Summary: Cells have evolved extensive signaling mechanisms to maintain redox homeostasis, with a critical role of oxidants in normal signaling. However, excessive oxidants can lead to elevated oxidative stress, causing alterations in cellular operations and damage to cellular components. The cellular response to oxidative stress includes redox sensors that regulate the DNA damage response and orchestrated changes to the epigenome, protecting and regulating the nuclear genome.
Review
Cell Biology
Yulia Mitiagin, Ari Barzilai
Summary: The review summarizes accumulating evidence that ataxia-telangiectasia mutated kinase is crucial for maintaining cellular homeostasis and has both nuclear and cytoplasmic functions. However, the specific functions of ataxia-telangiectasia mutated that lead to cerebellar degeneration when lost are still unknown. The review discusses the role of ataxia-telangiectasia mutated in cerebellar pathology, including its nuclear functions in DNA damage response circuits and its cytoplasmic and mitochondrial functions related to cellular homeostasis.
NEURAL REGENERATION RESEARCH
(2023)
Article
Oncology
Yousra Ajouaou, Elena Magnani, Bhavani Madakashira, Eleanor Jenkins, Kirsten C. Sadler
Summary: Research on zebrafish demonstrates that overexpression of the UHRF1 gene causes a small liver, while mutation of the Atm gene exacerbates this phenomenon. It is also found that oxidative stress is one of the causes of the small liver, and the Atm gene can alleviate the effects of this stress.
Review
Cell Biology
Venturina Stagni, Alessandra Ferri, Claudia Cirotti, Daniela Barila
Summary: There is a strong interplay between autophagy and genomic stability, with recent evidence linking DNA Damage Response (DDR) and autophagy in influencing cell fate. ATM kinase plays a crucial role in balancing senescence and apoptosis in response to stimuli, and its aberrant deregulation is linked to the development of pathologies like cancer and neurodegeneration.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Immunology
Geraldine Blanchard-Rohner, Anna Peirolo, Ludivine Coulon, Christian Korff, Judit Horvath, Pierre R. Burkhard, Fabienne Gumy-Pause, Emmanuelle Ranza, Peter Jandus, Harpreet Dibra, Alexander Malcolm R. Taylor, Joel Fluss
Summary: Ataxia-telangiectasia (A-T) is a neurodegenerative and primary immunodeficiency disorder characterized by various symptoms. This study presents a case series highlighting the phenotypic variability of A-T and emphasizes the importance of early diagnosis of variant A-T and classical A-T.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Sapir Schlam-Babayov, Ariel Bensimon, Michal Harel, Tamar Geiger, Ruedi Aebersold, Yael Ziv, Yosef Shiloh
Summary: This study conducted a comprehensive phosphoproteomic analysis in human wild-type and A-T cells to reveal the fine-tuned dynamics and relationships between PIKKs in the response to genotoxic stress. The results highlight the complex interactions among ATM, ATR, and DNA-PK in the DDR.
Article
Immunology
Ruth Pia Duecker, Lucia Gronau, Patrick C. Baer, Stefan Zielen, Ralf Schubert
Summary: Our study focused on investigating the feasibility of different approaches of hematopoietic stem cell transplantation (HSCT) for Ataxia-telangiectasia (A-T) by using Atm-deficient mice as models. The results showed that haploidentical HSCT could extend the lifespan of Atm-deficient mice and improve T-cell numbers and functionality. Interestingly, HSCT using heterozygous donor cells also led to improved survival and enhanced CD4 cell functionality in Atm-deficient mice, suggesting it as a potential strategy for A-T treatment.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Genetics & Heredity
Mohammad Z. Islam, Xinggui Shen, Sibile Pardue, Christopher B. Pattillo, Christopher G. Kevil, Rodney E. Shackelford
Summary: The ATM protein plays a crucial role in regulating cell cycle checkpoints, cellular redox state, and DNA repair. Its loss in ataxia-telangiectasia (A-T) leads to symptoms such as ataxia, telangiectasias, dysregulated redox and iron responses, and increased cancer risk. Our study reveals that ATM regulates the sulfur pool, Fe-S cluster biosynthesis, transsulfuration pathway, and glutathione redox cycling, which may explain some of the redox- and iron-related pathologies seen in A-T.
Review
Cell Biology
Julio Aguado, Cecilia Gomez-Inclan, Hannah C. Leeson, Martin F. Lavin, Yosef Shiloh, Ernst J. Wolvetang
Summary: Ataxia-telangiectasia (A-T) is a complex disorder characterized by progressive cerebellar degeneration, immunodeficiency, radiation sensitivity, genome instability, and predisposition to cancer. The premature aging component of A-T is of great importance in driving the disease.
AGEING RESEARCH REVIEWS
(2022)
Article
Oncology
Michael J. Hall, Ryan Bernhisel, Elisha Hughes, Katie Larson, Eric T. Rosenthal, Nanda A. Singh, Johnathan M. Lancaster, Allison W. Kurian
Summary: This study estimated cancer risks associated with ATM pathogenic variants independently of family history, showing that some variants may have higher breast cancer risks than previously recognized. Increased screening for prostate and gastric cancer may be warranted for carriers of ATM pathogenic variants.
CANCER PREVENTION RESEARCH
(2021)
Article
Oncology
Madeline B. Torres, Laurence P. Diggs, Jun S. Wei, Javed Khan, Markku Miettinen, Grace-Ann Fasaye, Andy Gillespie, Brigitte C. Widemann, Rosandra N. Kaplan, Jeremy L. Davis, Jonathan M. Hernandez, Jaydira Del Rivero
Summary: Adrenocortical carcinoma (ACC) is a rare malignancy originating from the adrenal cortex, and surgery is currently the only curative option. This study reports a pathogenic variant in the ATM gene in a patient with ACC, suggesting a potential pathogenic role of ATM gene in certain ACC cases.
Article
Multidisciplinary Sciences
Changwei Chen, Jennifer R. Gallagher, Jamie Tarlton, Lidy van Aalten, Susan E. Bray, Michael L. J. Ashford, Rory J. McCrimmon, Ewan R. Pearson, Alison D. McNeilly, Calum Sutherland
Summary: Genotype may influence the therapeutic effects of metformin for type-2 diabetes, and the NPAT gene may play a role in the mechanism of metformin action.
Article
Allergy
Ismail Ogulur, Tugce Ertuzun, Burcu Kocamis, Yasemin Kendir Demirkol, Emel Uyar, Ayca Kiykim, Dilek Baser, Gozde Yesil, Hacer Akturk, Ayper Somer, Ahmet Ozen, Elif Karakoc-Aydiner, Meltem Muftuoglu, Safa Baris
Summary: Heterozygous relatives of ataxia-telangiectasia (AT) patients are at increased risk for certain AT-related manifestations, and parents of AT patients show an increase in infection frequency. It is hypothesized that parents may exhibit immune alterations similar to their affected children.
PEDIATRIC ALLERGY AND IMMUNOLOGY
(2021)
Article
Oncology
Zun-Yan Zhou, Ji-Yuan Yang, Cheng-Ze Shao, Fei Luo, Wei Du
Summary: By regulating the expression of E2F-1 and ATM, the resistance of human nasopharyngeal carcinoma cells to cisplatin can be reversed.
WORLD JOURNAL OF SURGICAL ONCOLOGY
(2022)
Article
Multidisciplinary Sciences
Shannon C. Kelly, Amanda M. Eccardt, Jonathan S. Fisher
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS
(2018)
Article
Physiology
James Kain Ching, Stephen H. Luebbert, Roy L. Collins, Zhihong Zhang, Nandhini Marupudi, Sankha Banerjee, Robin D. Hurd, Lyle Ralston, Jonathan S. Fisher
EXPERIMENTAL PHYSIOLOGY
(2013)
Article
Sport Sciences
Edward P. Weiss, Nathaniel K. Royer, Jonathan S. Fisher, John O. Holloszy, Luigi Fontana
MEDICINE AND SCIENCE IN SPORTS AND EXERCISE
(2014)
Article
Multidisciplinary Sciences
Stanley Andrisse, Gaytri D. Patel, Joseph E. Chen, Andrea M. Webber, Larry D. Spears, Rikki M. Koehler, Rona M. Robinson-Hill, James K. Ching, Imju Jeong, Jonathan S. Fisher
Article
Biochemistry & Molecular Biology
Shannon C. Kelly, Neej N. Patel, Amanda M. Eccardt, Jonathan S. Fisher
Article
Biochemistry & Molecular Biology
Mark H. Mannino, Rishi S. Patel, Amanda M. Eccardt, Rodrigo A. Perez Magnelli, Chiron L. C. Robinson, Blythe E. Janowiak, Daniel E. Warren, Jonathan S. Fisher
COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY B-BIOCHEMISTRY & MOLECULAR BIOLOGY
(2019)
Article
Cell Biology
Amanda M. Eccardt, Ross J. Pelzel, Lyn Mattathil, Yerin A. Moon, Mark H. Mannino, Blythe E. Janowiak, Jonathan S. Fisher
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2020)
Editorial Material
Neurosciences
Jonathan S. Fisher
JOURNAL OF PHYSIOLOGY-LONDON
(2020)
Article
Biochemistry & Molecular Biology
Mark H. Mannino, Rishi S. Patel, Amanda M. Eccardt, Blythe E. Janowiak, David C. Wood, Fahu He, Jonathan S. Fisher
Article
Biochemistry & Molecular Biology
Theresa Schneider, Yongjun Tan, Huan Li, Jonathan S. Fisher, Dapeng Zhang
Summary: By conducting computational analyses, the authors identified a new type of non-heme binding globin called photoglobin, which may act as a light sensor in complex prokaryotic signal transduction systems.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2022)
Article
Chemistry, Physical
Amanda M. Eccardt, Ross J. Pelzel, Thomas P. Bell, Jonathan S. Fisher
Summary: This study found that iron porphyrin compounds with both peroxynitrite decomposition activity and peroxidase activity can stimulate insulin signaling and glucose transport.
Article
Biochemistry & Molecular Biology
Anjali Patel, Sara Vendrell-Gonzalez, Gabriel Haas, Madison Marcinczyk, Natalia Ziemkiewicz, Muhamed Talovic, Jonathan S. Fisher, Koyal Garg
BIORESEARCH OPEN ACCESS
(2019)
Article
Biochemistry & Molecular Biology
Amanda M. Eccardt, Thomas P. Bell, Lyn Mattathil, Rohan Prasad, Shannon C. Kelly, Jonathan S. Fisher
Article
Multidisciplinary Sciences
Larry D. Spears, Andrew Tran, Charles Y. Qin, Supriya B. Hobbs, Cheryl A. Liang Burns, Nathaniel K. Royer, Zhihong Zhang, Lyle Ralston, Jonathan S. Fisher