ATM and ataxia telangiectasia
نویسندگان
چکیده
منابع مشابه
ATM and ataxia telangiectasia.
Ataxia telangiectasia (AT) has long intrigued the biomedical research community owing to the spectrum of defects that are characteristic of the disease, including neurodegeneration, immune dysfunction, radiosensitivity and cancer predisposition. Following the identification of mutations in ATM (ataxia telangiectasia, mutated) as the underlying cause of the disease, biochemical analysis of this ...
متن کاملThe ATM gene and ataxia telangiectasia.
Ataxia telangiectasia (AT) is a rare neurodegenerative, autosomal recessive disorder characterized by chromosome instability, radiosensitivity, immunodeficiency and a predisposition for cancer. Epidemiological studies have shown that AT heterozygotes have a predisposition for cancer, especially for breast cancer in women. The disease is caused by mutations in the ATM gene, leading to total loss...
متن کاملATM and the molecular pathogenesis of ataxia telangiectasia.
Ataxia telangiectasia (A-T) results from inactivation of the ATM protein kinase. DNA-damage signaling is a prime function of this kinase, although other roles have been ascribed to ATM. Identifying the primary ATM function(s) for tissue homeostasis is key to understanding how these functions contribute to the prevention of A-T-related pathology. In this regard, because A-T is primarily a neurod...
متن کاملIdentification of ATM Mutations in Korean Siblings with Ataxia-Telangiectasia
Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder. It is characterized by early-onset, progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, conjunctival telangiectasias, immunodeficiency, and an increased risk of malignancy. Although A-T is known to be the most common cause of progressive cerebellar ataxia in childhood, there have been no confir...
متن کاملAtaxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene
Heejeong Jeong, M.D.*, Hee Jae Huh, M.D.*, Jinyoung Youn, M.D., Ji Sun Kim, M.D., Jin Whan Cho, Ph.D., and Chang-Seok Ki, M.D. Department of Neurology, Gyeongsang National University School of Medicine, Jinju; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Neurology, Samsung Medical Center, Sungkyunkwan Un...
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ژورنال
عنوان ژورنال: EMBO reports
سال: 2004
ISSN: 1469-221X,1469-3178
DOI: 10.1038/sj.embor.7400210