Results 171 to 180 of about 1,665,599 (197)

Ataxia-Telangiectasia: Phenotype/Genotype Studies of ATM Protein Expression, Mutations, and Radiosensitivity

Molecular Genetics and Metabolism, 2000
Previous studies on a limited number of ataxia-telangiectasia (A-T) patients with detectable levels of intracellular ATM protein have suggested a genotype/phenotype correlation. We sought to elucidate this possible correlation by comparing ATM protein levels with mutation types, radiosensitivity, and clinical phenotype.
Gatti, RA, Lee, EYHP, Chessa, L, Bernatowska-Matuszkiewicz, E, Sanal, O, Sun, X, Wang, ZJ, Hwang, MJ, Chen, G, Becker-Catania, SG   +9 more
openaire   +3 more sources

Reduced NMDA-induced apoptosis in neurons lacking ataxia telangiectasia mutated protein

NeuroReport, 2003
Apoptosis is an important route to neuronal death in experimental models of stroke, the leading neurological cause of death and disability. Here we explore a role for ataxia telangiectasia mutated protein (ATM), an activator of p53, in a primary cortical culture model of stroke.
Malcolm R, Macleod, Lynne, Ramage, Ailsa, McGregor, Jonathan R, Seckl   +3 more
openaire   +2 more sources

Biochemical characterization of the ataxia-telangiectasia mutated (ATM) protein from human cells

DNA Repair, 2004
Ataxia-telangiectasia mutated (ATM) is a serine/threonine protein kinase that plays a central role in controlling the cellular response to ionizing radiation and other DNA-damaging agents. ATM is a 3056 amino acid polypeptide that is present in low abundance in the nucleus of human cells.
Aaron A, Goodarzi, Susan P, Lees-Miller
openaire   +2 more sources

Composition and enzymatic activities of ataxia-telangiectasia mutated (ATM) protein complexes

2022
Ataxia-telangiectasia (A-T), an autosomal recessive disorder, occurs In a ratio of 1:40,000- 1:100,000 live births, with the primary feature of progressive gait and truncal ataxia. It is a progressive, degenerative disease characterized by cerebellar degeneration, and also by immunodeficiency, radiosensitivity and a predisposition to cancer.
openaire   +2 more sources

Utilizing Protein Phosphatase Inhibitors to Define PP2A as a Regulator of Ataxia-Telangiectasia Mutated

2007
Ataxia-telangiectasia mutated (ATM) is a serine/threonine protein kinase that plays a central role in controlling the cellular response to DNA double-strand breaks caused by ionizing radiation. Ionizing radiation induces the autophosphorylation of ATM on serine 1981; however, the precise mechanisms that regulate ATM autophosphorylation are not fully ...
Aaron A, Goodarzi, Pauline, Douglas, Greg B G, Moorhead, Susan P, Lees-Miller   +3 more
openaire   +2 more sources

Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

American journal of human genetics, 1996
We have examined the distal half of the ataxia-telangiectasia (A-T) gene transcript for truncation mutations in 48 A-T affecteds. We found 21 mutations; 4 of the mutations were seen in more than one individual. Genotyping of the individuals sharing mutations, by using nearby microsatellite markers, established that three of the four groups shared ...
Telatar, M., Wang, Z., Udar, N., Liang, T., Bernatowska-Matuszkiewicz, E., Lavin, M., Shiloh, Y., Concannon, P., Good, R. A., Gatti, R. A.   +9 more
openaire   +2 more sources

Cell Cycle Control by Ataxia Telangiectasia Mutated Protein Through Regulating Retinoblastoma Protein Phosphorylation

2012
The ability of cells to maintain their genomic integrity is essential to the prevention of cancer development. Double-strand breaks (DSBs), the most harmful type of lesion to DNA, are sensed by ataxia-telangiectasia mutated (ATM) protein in association with the MRE11-RAD50-NBS1 complex. The ATM kinase, which is mutated in ataxia-telangiectasia disorder,
Javier G. Pizarro, Antoni Camins, Felix Junyent, Ester Verdaguer, Carme Auladell, Carlos Beas-Zarate, Mercè Pallàs, Jaume Folch   +7 more
openaire   +1 more source

Mechanisms Underlying the Suppression of Chromosome Rearrangements by Ataxia-Telangiectasia Mutated

Genes, 2021
Motohiro Yamauchi
exaly  

A Novel Mechanism of Ataxia Telangiectasia Mutated Mediated Regulation of Chromatin Remodeling in Hypoxic Conditions

Frontiers in Cell and Developmental Biology, 2021
J A L Brown, Constantinos Demonacos, Roben Gieling   +2 more
exaly  

Mechanisms of Ataxia Telangiectasia Mutated (ATM) Control in the DNA Damage Response to Oxidative Stress, Epigenetic Regulation, and Persistent Innate Immune Suppression Following Sepsis

Antioxidants, 2021
Shan Yan
exaly