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The Pathogenesis of Ataxia-Telangiectasia
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“ATM de®ciency causes the genetic disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunode®ciency, radiation sensitivity, chromosomal instability and cancer predisposition.”
From Requirement of the MRN complex for ATM activation by DNA damage (2003) · cites this paper as Gatti et al., 2001
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Metadata
- Authors
- Gatti, R. A., Becker-Catania, S., Chun, H. H., Sun, X., Mitui, M., Lai, C.-H., Khanlou, N., Babaei, M., Cheng, R., Clark, C., Huo, Y., Udar, N. C., & Iyer, R. K.
- Affiliations
- University of California, Los Angeles (US)
- Corresponding author
- Gatti, Richard A
- Venue
- Clinical Reviews in Allergy & Immunology
- Published
- 2001
- Volume
- 20
- Issue
- 1
- Pages
- 87-108
- ISSN
- 1080-0549 (ISSN-L)
- OpenAlex
- W35335865
- Cited by
- 101
- References
- 112
- Citations by year
- 2025: 1 · 2024: 1 · 2023: 2 · 2022: 1 · 2021: 8 · 2020: 3 · 2019: 1 · 2018: 2 · 2017: 6 · 2016: 5 · 2015: 5 · 2014: 8 · 2013: 5 · 2012: 6
- FWCI
- 2.07
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Reviews in Allergy & Immunology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- ataxia telangiectasia, pathogenesis, ATM kinase, radiosensitivity, immunodeficiency, DNA repair, cell cycle checkpoints, p53 phosphorylation, cancer susceptibility, NBS1, MRE11, oxidative stress, neurodegeneration, radical scavengers, vitamin E, alpha-lipoic acid, coenzyme Q10, aspirin, neural stem cell therapy
- MeSH terms
- Ataxia Telangiectasia, DNA Repair, Humans, Radiation Tolerance
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