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- W2005459546 endingPage "4045" @default.
- W2005459546 startingPage "4036" @default.
- W2005459546 abstract "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." @default.
- W2005459546 created "2016-06-24" @default.
- W2005459546 creator A5060390908 @default.
- W2005459546 creator A5072577584 @default.
- W2005459546 date "2013-05-16" @default.
- W2005459546 modified "2023-10-13" @default.
- W2005459546 title "Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions" @default.
- W2005459546 cites W1479769602 @default.
- W2005459546 cites W1608755692 @default.
- W2005459546 cites W1640182255 @default.
- W2005459546 cites W1966661268 @default.
- W2005459546 cites W1966706887 @default.
- W2005459546 cites W1970965314 @default.
- W2005459546 cites W1978727038 @default.
- W2005459546 cites W1980737084 @default.
- W2005459546 cites W1981844581 @default.
- W2005459546 cites W1983218764 @default.
- W2005459546 cites W1983577458 @default.
- W2005459546 cites W1984290310 @default.
- W2005459546 cites W1987325894 @default.
- W2005459546 cites W1988524165 @default.
- W2005459546 cites W1989710643 @default.
- W2005459546 cites W1990319128 @default.
- W2005459546 cites W1992115542 @default.
- W2005459546 cites W1996242303 @default.
- W2005459546 cites W1997487041 @default.
- W2005459546 cites W1997853066 @default.
- W2005459546 cites W1999119036 @default.
- W2005459546 cites W1999441797 @default.
- W2005459546 cites W2000383933 @default.
- W2005459546 cites W2001403475 @default.
- W2005459546 cites W2001859397 @default.
- W2005459546 cites W2004486431 @default.
- W2005459546 cites W2004991378 @default.
- W2005459546 cites W2007815419 @default.
- W2005459546 cites W2008100923 @default.
- W2005459546 cites W2011089421 @default.
- W2005459546 cites W2011176464 @default.
- W2005459546 cites W2011788692 @default.
- W2005459546 cites W2018468994 @default.
- W2005459546 cites W2019362208 @default.
- W2005459546 cites W2020822239 @default.
- W2005459546 cites W2022451432 @default.
- W2005459546 cites W2022811243 @default.
- W2005459546 cites W2024781204 @default.
- W2005459546 cites W2030274771 @default.
- W2005459546 cites W2032499453 @default.
- W2005459546 cites W2035154953 @default.
- W2005459546 cites W2036335278 @default.
- W2005459546 cites W2041897873 @default.
- W2005459546 cites W2042480414 @default.
- W2005459546 cites W2042515294 @default.
- W2005459546 cites W2043027414 @default.
- W2005459546 cites W2045164156 @default.
- W2005459546 cites W2046283209 @default.
- W2005459546 cites W2046994769 @default.
- W2005459546 cites W2047212040 @default.
- W2005459546 cites W2048589996 @default.
- W2005459546 cites W2049151225 @default.
- W2005459546 cites W2054571064 @default.
- W2005459546 cites W2060001445 @default.
- W2005459546 cites W2060917950 @default.
- W2005459546 cites W2062515127 @default.
- W2005459546 cites W2063221926 @default.
- W2005459546 cites W2064196546 @default.
- W2005459546 cites W2064377499 @default.
- W2005459546 cites W2065916701 @default.
- W2005459546 cites W2066930016 @default.
- W2005459546 cites W2071656187 @default.
- W2005459546 cites W2075385153 @default.
- W2005459546 cites W2077577291 @default.
- W2005459546 cites W2078544177 @default.
- W2005459546 cites W2079052854 @default.
- W2005459546 cites W2082139407 @default.
- W2005459546 cites W2084666187 @default.
- W2005459546 cites W2084966416 @default.
- W2005459546 cites W2085453224 @default.
- W2005459546 cites W2086502943 @default.
- W2005459546 cites W2087367816 @default.
- W2005459546 cites W2088406182 @default.
- W2005459546 cites W2090444428 @default.
- W2005459546 cites W2093912636 @default.
- W2005459546 cites W2095014563 @default.
- W2005459546 cites W2101770383 @default.
- W2005459546 cites W2102799140 @default.
- W2005459546 cites W2102891343 @default.
- W2005459546 cites W2104924004 @default.
- W2005459546 cites W2106925712 @default.
- W2005459546 cites W2111245253 @default.
- W2005459546 cites W2111768081 @default.
- W2005459546 cites W2112808167 @default.
- W2005459546 cites W2113966521 @default.
- W2005459546 cites W2115157125 @default.
- W2005459546 cites W2115708356 @default.
- W2005459546 cites W2117664165 @default.
- W2005459546 cites W2118609150 @default.
- W2005459546 cites W2120886826 @default.
- W2005459546 cites W2126045962 @default.