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The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta Stone.

作者信息

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

机构信息

Department of Pathology, UCLA School of Medicine, Los Angeles, CA 90095-1732, USA.

出版信息

Clin Rev Allergy Immunol. 2001 Feb;20(1):87-108. doi: 10.1385/CRIAI:20:1:87.

DOI:10.1385/CRIAI:20:1:87
PMID:11269230
Abstract
摘要

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The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta Stone.共济失调毛细血管扩张症的发病机制。从罗塞塔石碑中学习。
Clin Rev Allergy Immunol. 2001 Feb;20(1):87-108. doi: 10.1385/CRIAI:20:1:87.
2
Ataxia telangiectasia: a defect of tissue maturation and DNA repair.
Cutis. 1984 Nov;34(5):433-9.
3
Genetic and biochemical studies with ataxia telangiectasia. A review.共济失调毛细血管扩张症的遗传学和生物化学研究。综述。
Hum Genet. 1981;59(1):1-9. doi: 10.1007/BF00278846.
4
Comments on the paper: the ATM gene and the radiobiology of ataxia-telangiectasia.对论文的评论：ATM基因与共济失调毛细血管扩张症的放射生物学
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5
Mammalian mutants defective in the response to ionizing radiation-induced DNA damage.在对电离辐射诱导的DNA损伤的反应中存在缺陷的哺乳动物突变体。
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[From gene to disease; ataxia telangiectasia].[从基因到疾病；共济失调毛细血管扩张症]
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7
[Ataxia-telangiectasia. Report of 4 cases].[共济失调-毛细血管扩张症。4例报告]
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IgG2 deficiency and ataxia-telangiectasia.
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Evelyn Witkin and Stephen Elledge share the 2015 Lasker Basic Medical Award.伊芙琳·维特金和斯蒂芬·埃利奇共同获得2015年拉斯克基础医学奖。
J Clin Invest. 2015 Oct 1;125(10):3727-31. doi: 10.1172/JCI84318. Epub 2015 Sep 8.
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Restoration of radiation resistance in ataxia telangiectasia cells by the introduction of normal human chromosome 11.通过导入正常人类11号染色体恢复共济失调毛细血管扩张症细胞的辐射抗性。
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The Chromosome Passenger Complex (CPC) Components and Its Associated Pathways Are Promising Candidates to Differentiate Between Normosensitive and Radiosensitive ATM-Mutated Cells.染色体乘客复合体（CPC）组分及其相关通路有望成为区分正常敏感型和放射敏感型 ATM 突变细胞的候选因素。
Biomark Insights. 2024 Oct 30;19:11772719241274017. doi: 10.1177/11772719241274017. eCollection 2024.
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BDNF and Cerebellar Ataxia.脑源性神经营养因子与小脑性共济失调。
Curr Drug Res Rev. 2024;16(3):300-307. doi: 10.2174/2589977515666230811093021.
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Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.

本文引用的文献

1
A STUDY OF THE BRONCHIAL AND VASCULAR STRUCTURES OF A LUNG: FROM A CASE OF ATAXIA-TELANGIECTASIA.
Dis Chest. 1965 May;47:473-86. doi: 10.1378/chest.47.5.473.
2
ATAXIA-TELANGIECTASIA. ITS ASSOCIATION WITH A DEFECTIVE THYMUS, IMMUNOLOGICAL-DEFICIENCY DISEASE, AND MALIGNANCY.共济失调毛细血管扩张症。其与胸腺缺陷、免疫缺陷病及恶性肿瘤的关联。
Lancet. 1964 May 30;1(7344):1189-93. doi: 10.1016/s0140-6736(64)91209-7.
3
[Ataxiatelangiectasis. (7 personal cases)].[共济失调毛细血管扩张症。（7例个人病例）]
患儿存在非典型性毛细血管扩张共济失调症，携带复合杂合变异，包括一种新的拷贝数变异：病例报告。
BMC Med Genomics. 2021 Aug 17;14(1):204. doi: 10.1186/s12920-021-01053-3.
4
Ataxia Telangiectasia Mutated Protein Kinase: A Potential Master Puppeteer of Oxidative Stress-Induced Metabolic Recycling.共济失调毛细血管扩张症突变蛋白激酶：氧化应激诱导代谢回收的潜在主控大师。
Oxid Med Cell Longev. 2021 Apr 1;2021:8850708. doi: 10.1155/2021/8850708. eCollection 2021.
5
ATM Protein Kinase: Old and New Implications in Neuronal Pathways and Brain Circuitry.ATM 蛋白激酶：在神经元通路和脑回路中的新老意义。
Cells. 2020 Aug 26;9(9):1969. doi: 10.3390/cells9091969.
6
Mitochondria at the crossroads of ATM-mediated stress signaling and regulation of reactive oxygen species.线粒体在 ATM 介导的应激信号和活性氧调节中的交汇点。
Redox Biol. 2020 May;32:101511. doi: 10.1016/j.redox.2020.101511. Epub 2020 Mar 21.
7
Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report.伴有新型 ATM 基因突变的共济失调毛细血管扩张症与伯基特淋巴瘤：一例报告
Mol Clin Oncol. 2018 Nov;9(5):493-498. doi: 10.3892/mco.2018.1721. Epub 2018 Sep 17.
8
Ibuprofen prevents progression of ataxia telangiectasia symptoms in ATM-deficient mice.布洛芬可预防 ATM 缺陷型小鼠共济失调毛细血管扩张症症状的进展。
J Neuroinflammation. 2018 Nov 6;15(1):308. doi: 10.1186/s12974-018-1338-7.
9
Oxidative stress-driven pulmonary inflammation and fibrosis in a mouse model of human ataxia-telangiectasia.人类共济失调毛细血管扩张症小鼠模型中氧化应激驱动的肺炎症和纤维化。
Redox Biol. 2018 Apr;14:645-655. doi: 10.1016/j.redox.2017.11.006. Epub 2017 Nov 10.
10
Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel.使用离子AmpliSeq遗传性疾病检测板鉴定出两种与共济失调毛细血管扩张症相关的新突变。
Front Neurol. 2017 Oct 30;8:570. doi: 10.3389/fneur.2017.00570. eCollection 2017.
Rev Neurol (Paris). 1961 Nov;105:390-405.
4
Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.共济失调毛细血管扩张症；一种具有进行性小脑共济失调、眼皮肤毛细血管扩张和频繁肺部感染的家族性综合征。
Pediatrics. 1958 Apr;21(4):526-54.
5
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.41个患有共济失调毛细血管扩张症的北欧家庭中ATM突变的特征分析。
Hum Mutat. 2000 Sep;16(3):232-46. doi: 10.1002/1098-1004(200009)16:3<232::AID-HUMU6>3.0.CO;2-L.
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The molecular basis and clinical management of ataxia telangiectasia.共济失调毛细血管扩张症的分子基础与临床管理
Can J Neurol Sci. 2000 Aug;27(3):184-91. doi: 10.1017/s0317167100000822.
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Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.共济失调毛细血管扩张症：ATM蛋白表达、突变及放射敏感性的表型/基因型研究
Mol Genet Metab. 2000 Jun;70(2):122-33. doi: 10.1006/mgme.2000.2998.
8
Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products.共济失调毛细血管扩张症与尼曼-匹克氏病C型基因产物之间的功能联系。
Nature. 2000 May 25;405(6785):473-7. doi: 10.1038/35013083.
9
Membrane and transmembrane signaling in Herpesvirus saimiri-transformed human CD4(+) and CD8(+) T lymphocytes is ATM-independent.猴疱疹病毒转化的人CD4(+)和CD8(+) T淋巴细胞中的膜及跨膜信号传导不依赖于ATM。
Int Immunol. 2000 Jun;12(6):927-35. doi: 10.1093/intimm/12.6.927.
10
ATM-dependent phosphorylation of nibrin in response to radiation exposure.辐射暴露后，依赖ATM的尼布林磷酸化。
Nat Genet. 2000 May;25(1):115-9. doi: 10.1038/75508.