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Blood, ISSN 0006-4971, 02/2012, Volume 119, Issue 6, pp. 1490 - 1500
Ataxia-telangiectasia mutated (ATM) plays a central role in DNA damage responses, and its loss leads to development of T-cell malignancies. Here, we show that... 
OXIDATIVE STRESS | AUTOPHAGY GENE | BECLIN-1 | HEMATOPOIETIC STEM-CELLS | TUMOR-SUPPRESSOR | DJ-1 | IONIZING-RADIATION | HEMATOLOGY | CANCER | ATM-DEFICIENT MICE | PARKINSONS-DISEASE | Reactive Oxygen Species - metabolism | Thymocytes - metabolism | Humans | Immunoblotting | Autophagy | Lymphoma, T-Cell - metabolism | DNA-Binding Proteins - metabolism | Mitochondria - genetics | RNA Interference | Adenosine Triphosphate - metabolism | Tumor Suppressor Proteins - genetics | Membrane Potential, Mitochondrial | Apoptosis Regulatory Proteins - genetics | Cell Cycle Proteins - genetics | Membrane Proteins - metabolism | Protein-Serine-Threonine Kinases - metabolism | Fibroblasts - metabolism | Ataxia Telangiectasia - physiopathology | Beclin-1 | Microscopy, Electron, Transmission | Thymocytes - ultrastructure | Gene Expression | Tumor Suppressor Proteins - metabolism | Membrane Proteins - genetics | Mice, Inbred C57BL | Cell Cycle Proteins - metabolism | Cells, Cultured | Kaplan-Meier Estimate | Oxygen Consumption | Protein-Serine-Threonine Kinases - genetics | Ataxia Telangiectasia - metabolism | Mitochondria - metabolism | Ataxia Telangiectasia Mutated Proteins | DNA-Binding Proteins - genetics | Lymphoma, T-Cell - genetics | Reverse Transcriptase Polymerase Chain Reaction | Apoptosis Regulatory Proteins - metabolism | Mice, Knockout | Animals | Ataxia Telangiectasia - genetics | Fibroblasts - cytology | Mice | Mitochondria - physiology | Lymphoid Neoplasia
Journal Article
2009, ISBN 9781587063220, 110
Book
Cell Metabolism, ISSN 1550-4131, 10/2016, Volume 24, Issue 4, pp. 566 - 581
Journal Article
Brain and nerve = Shinkei kenkyu no shinpo, ISSN 1881-6096, 04/2019, Volume 71, Issue 4, p. 380
Ocular telangiectasias are pathognomonic of ataxia telangiectasia (AT), and they usually appear after 6 years of age. Skin and visceral telangiectasias may... 
Ataxia Telangiectasia - diagnosis | Ataxia Telangiectasia - pathology | Humans | Viscera - pathology | Eye Diseases - pathology | Skin - pathology
Journal Article
Nature Medicine, ISSN 1078-8956, 05/2012, Volume 18, Issue 5, pp. 783 - 790
Journal Article
2015, ISBN 0444627022, Volume 132
Ataxia telangiectasia (AT) is an autosomal recessive multisystem genetic disorder caused by a mutation in the encoding for the ATM protein. AT systemic... 
neurodegeneration | Cerebellar | ATM | movement disorder | DNA repair | Neurodegeneration | Movement disorder | Ataxia Telangiectasia - physiopathology | Ataxia Telangiectasia - genetics | Ataxia Telangiectasia Mutated Proteins - genetics | Mutation - genetics | Humans
Book Chapter
Current Allergy & Clinical Immunology, ISSN 1609-3607, 12/2018, Volume 31, Issue 4, p. 263
Emily, a five-year-old girl, was referred by her family practitioner (GP) to the nearby hospital into the care of Dr Goodheart, a paediatrician, for the... 
Immunoglobulins | Eyelets | Lungs | Ataxia | Ataxia telangiectasia | Differential diagnosis | Girls
Journal Article
Journal of Neurology, ISSN 0340-5354, 7/2015, Volume 262, Issue 7, pp. 1724 - 1727
Journal Article
Nature Neuroscience, ISSN 1097-6256, 2013, Volume 16, Issue 12, pp. 1745 - 1753
Journal Article