The DOI matches its Crossref record; 133 of the 138 references it cites were found in a registry or an index.
Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions
Open accessAbstract
In 1988, the gene responsible for the autosomal recessive disease ataxia- telangiectasia (A-T) was localized to 11q22.3-23.1. It was eventually cloned in 1995. Many independent laboratories have since demonstrated that in replicating cells, ataxia telangiectasia mutated (ATM) is predominantly a nuclear protein that is involved in the early recognition and response to double-stranded DNA breaks. ATM is a high-molecular-weight PI3K-family kinase. ATM also plays many important cytoplasmic roles where it phosphorylates hundreds of protein substrates that activate and coordinate cell-signaling pathways involved in cell-cycle checkpoints, nuclear localization, gene transcription and expression, the response to oxidative stress, apoptosis, nonsense-mediated decay, and others. Appreciating these roles helps to provide new insights into the diverse clinical phenotypes exhibited by A-T patients—children and adults alike—which include neurodegeneration, high cancer risk, adverse reactions to radiation and chemotherapy, pulmonary failure, immunodeficiency, glucose transporter aberrations, insulin-resistant diabetogenic responses, and distinct chromosomal and chromatin changes. An exciting recent development is the ATM-dependent pathology encountered in mitochondria, leading to inefficient respiration and energy metabolism and the excessive generation of free radicals that themselves create life-threatening DNA lesions that must be repaired within minutes to minimize individual cell losses.
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“Notably, ATM was directly activated by hydrogen peroxide-induced oxidation in the absence of DNA damage, evidenced by ATM auto-phosphorylation at Serine 1981, p53 phosphorylation at Serine 15, and Chk2 phosphorylation at Threonine 68, but not by H2AX phosphorylation at Serine139 [74–76].”
From Functional interplay between ATM/ATR-mediated DNA damage response and DNA repair pathways in oxidative stress (2014) · cites this paper as [75]
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Cites
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928
Role of AMP-Activated Protein Kinase in Mechanism of Metformin Action
Zhou, G., Myers, R., Li, Y., Chen, Y., Shen, X., Fenyk-Melody, J., Wu, M., Ventre, J., Doebber, T., Fujii, N., et al. (2001) · Journal of Clinical Investigation · doi:10.1172/jci13505 · Cited by 5,652
DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation
Bakkenist, C. J., & Kastan, M. B. (2003) · Nature · doi:10.1038/nature01368 · Cited by 3,466
A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase
Savitsky, K., Bar-Shira, A., Gilad, S., Rotman, G., Ziv, Y., Vanagaite, L., Tagle, D. A., Smith, S., Uziel, T., Sfez, S., et al. (1995) · Science · doi:10.1126/science.7792600 · Cited by 2,785
Self-citationHypoxia-inducible factors and the response to hypoxic stress
Majmundar, A. J., Wong, W. J., & Simon, M. C. (2010) · Molecular Cell · doi:10.1016/j.molcel.2010.09.022 · Cited by 2,380
Signal transduction by reactive oxygen species
Finkel, T. (2011) · Journal of Cell Biology · doi:10.1083/jcb.201102095 · Cited by 2,322
Cell cycle checkpoint signaling through the ATM and ATR kinases
Abraham, R. T. (2001) · Genes & Development · doi:10.1101/gad.914401 · Cited by 1,966
Shaw, R. J., Kosmatka, M., Bardeesy, N., Hurley, R. L., Witters, L. A., DePinho, R. A., & Cantley, L. C. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0308061100 · Cited by 1,797
p53 Regulates Mitochondrial Respiration
Matoba, S., Kang, J.-G., Patino, W. D., Wragg, A., Boehm, M., Gavrilova, O., Hurley, P. J., Bunz, F., & Hwang, P. M. (2006) · Science · doi:10.1126/science.1126863 · Cited by 1,650
Flagged first, then by citations
5 of the 138 references couldn’t be matched to a known paper.
Research works printed but not linked: 2
- Gatti, 2001, Ataxia-Telangiectasia., 705
- Gatti, 1985, Translocations involving chromosomes 2p and 22q in ataxia-telangiectasia., Dis Markers, 3, 169
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Sorted by citations
Cellular functions of the protein kinase ATM and their relevance to human disease
Lee, J., & Paull, T. T. (2021) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-021-00394-2 · Cited by 303
Yan, S., Sorrell, M., & Berman, Z. (2014) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-014-1666-4 · Cited by 247
Melanocytes and Their DiseasesPreprint
Yamaguchi, Y., & Hearing, V. J. (2014) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a017046 · Cited by 257
Role of Mitochondria in Radiation Responses: Epigenetic, Metabolic, and Signaling Impacts
Averbeck, D., & Rodriguez‐Lafrasse, C. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222011047 · Cited by 262
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases
Bettencourt, C., Hensman‐Moss, D., Flower, M., Wiethoff, S., Brice, A., Goizet, C., Stevanin, G., Koutsis, G., Karadima, G., Panas, M., et al. (2016) · Annals of Neurology · doi:10.1002/ana.24656 · Cited by 227
Metadata
- Authors
- Ambrose, M., & Gatti, R. A.
- Affiliations
- University of Tasmania (AU)
- University of California, Los Angeles (US)
- ORCID
- Ambrose, Mark
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2013-05-16
- Volume
- 121
- Issue
- 20
- Pages
- 4036-4045
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- PMC
- PMC3709651
- OpenAlex
- W2005459546
- Cited by
- 196
- References
- 138
- Citations by year
- 2026: 5 · 2025: 10 · 2024: 5 · 2023: 11 · 2022: 8 · 2021: 13 · 2020: 18 · 2019: 13 · 2018: 16 · 2017: 20 · 2016: 26 · 2015: 21 · 2014: 24 · 2013: 6
- FWCI
- 2.41
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Blood (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- eCite Digital Repository (University of Tasmania) (submittedVersion)
- Figshare (submittedVersion)
- Funders
- U.S. Public Health Service
- National Institute of Allergy and Infectious Diseases (AI 067769, U19AI067769)
- National Institute of Neurological Disorders and Stroke (R01NS052528, NS 052528)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Effects of Radiation Exposure
- Keywords
- ataxia telangiectasia, ATM kinase, DNA double-strand break response, PI3K-related kinases, cell cycle checkpoints, oxidative stress, apoptosis, nonsense-mediated mRNA decay, neurodegeneration, cancer susceptibility, radiosensitivity, mitochondrial dysfunction, free radical DNA damage, transcriptional regulation, insulin resistance, immunodeficiency
- MeSH terms
- Adult, Animals, Ataxia Telangiectasia, DNA Damage, DNA-Binding Proteins, Humans, Mitochondria, Models, Biological, Oxidation-Reduction, Protein Serine-Threonine Kinases, Oxidative Stress, Cell Cycle Proteins, Tumor Suppressor Proteins, DNA Breaks, Double-Stranded, Ataxia Telangiectasia Mutated Proteins
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