Access the full text.
Sign up today, get DeepDyve free for 14 days.
A. Shaikh, S. Marti, A. Tarnutzer, A. Palla, T. Crawford, D. Straumann, A. Taylor, D. Zee (2009)
Gaze fixation deficits and their implication in ataxia–telangiectasiaJournal of Neurology, Neurosurgery, and Psychiatry, 80
Rita Beier, K. Sykora, Wilhelm Woessmann, B. Maecker-Kolhoff, Martin Sauer, Hans Kreipe, T. Dörk-Bousset, Christian Kratz, Melchior Lauten (2016)
Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphomaBone Marrow Transplantation, 51
I. Kruman, R. Wersto, F. Cardozo‐Pelaez, L. Smilenov, Sic Chan, F. Chrest, Roland Emokpae, M. Gorospe, M. Mattson (2004)
Cell Cycle Activation Linked to Neuronal Cell Death Initiated by DNA DamageNeuron, 41
M. Uhlén, Linn Fagerberg, B. Hallström, C. Lindskog, P. Oksvold, A. Mardinoğlu, Åsa Sivertsson, C. Kampf, E. Sjöstedt, A. Asplund, Ingmarie Olsson, K. Edlund, E. Lundberg, S. Navani, C. Szigyarto, J. Odeberg, Dijana Djureinovic, Jenny Takanen, S. Hober, T. Alm, P. Edqvist, H. Berling, Hanna Tegel, J. Mulder, Johan Rockberg, P. Nilsson, J. Schwenk, Marica Hamsten, K. Feilitzen, Mattias Forsberg, L. Persson, Fredric Johansson, M. Zwahlen, G. Heijne, J. Nielsen, F. Pontén (2015)
Tissue-based map of the human proteomeScience, 347
Da-Qing Yang, M. Kastan (2000)
Participation of ATM in insulin signalling through phosphorylation of eIF-4E-binding protein 1Nature Cell Biology, 2
A. Taylor, JA Metcalfe, J. Thick, YF Mak (1996)
Leukemia and lymphoma in ataxia telangiectasia.Blood, 87 2
S. Kishi, K. Lu (2002)
A Critical Role for Pin2/TRF1 in ATM-dependent RegulationThe Journal of Biological Chemistry, 277
Adel Ekladious (2020)
Ataxia-TelangiectasiaDefinitions
C. Rothblum-Oviatt, Jennifer Wright, M. Lefton-Greif, S. McGrath-Morrow, T. Crawford, H. Lederman (2016)
Ataxia telangiectasia: a reviewOrphanet Journal of Rare Diseases, 11
Alberto Pinzón‐Charry, R. Kimble, J. Peake (2013)
Intralesional Steroids for the Treatment of Cutaneous Granulomas in Ataxia TelangiectasiaInternal Medicine Journal, 43
N. Os, A. Jansen, M. Deuren, Á. Haraldsson, Nieke Driel, A. Etzioni, M. Flier, C. Haaxma, T. Morio, A. Rawat, M. Schoenaker, A. Soresina, A. Taylor, B. Warrenburg, C. Weemaes, N. Roeleveld, M. Willemsen (2017)
Ataxia-telangiectasia: Immunodeficiency and survival.Clinical immunology, 178
M. Swift, D. Morrell, E. Cromartie, A. Chamberlin, M. Skolnick, D. Bishop (1986)
The incidence and gene frequency of ataxia-telangiectasia in the United States.American journal of human genetics, 39 5
Yun Su, M. Swift (2000)
Mortality Rates among Carriers of Ataxia-Telangiectasia Mutant AllelesAnnals of Internal Medicine, 133
Mohammed Chaudhary, Raidah Al-Baradie (2014)
Ataxia-telangiectasia: future prospectsThe Application of Clinical Genetics, 7
A. Nissenkorn, S. Hassin-Baer, S. Lerman, Y. Levi, M. Tzadok, B. Ben-Zeev (2013)
Movement Disorder in Ataxia-TelangiectasiaJournal of Child Neurology, 28
J. Bednarski, B. Sleckman (2012)
Lymphocyte development: integration of DNA damage response signaling.Advances in immunology, 116
R. Buckley (2004)
Pulmonary complications of primary immunodeficiencies.Paediatric respiratory reviews, 5 Suppl A
D. Marmolino, M. Manto (2010)
Past, Present and Future Therapeutics for Cerebellar AtaxiasCurrent Neuropharmacology, 8
B. Yalçın, M. Kutluk, Ö. Sanal, C. Akyüz, D. Anadol, M. Çaǧlar, A. Göçmen, M. Büyükpamukçu (2002)
Hodgkin's disease and ataxia telangiectasia with pulmonary cavitiesPediatric Pulmonology, 33
L. Chen, L. Guo, J. Tian, B. Zheng, S. Han (2010)
Deficiency in activation‐induced cytidine deaminase promotes systemic autoimmunity in lpr mice on a C57BL/6 backgroundClinical & Experimental Immunology, 159
M. Egmond, J. Elting, A. Kuiper, R. Zutt, K. Heineman, O. Brouwer, D. Sival, M. Willemsen, M. Tijssen, T. Koning (2015)
Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 19 6
Suk-Young Lee, S. Oh (2016)
Ataxia telangiectasia mutated (ATM), could it be another useful biomarker for the successful treatment with the poly (ADP-ribose) polymerase inhibitor?Translational gastroenterology and hepatology, 1
A. Elson, Yaoqi Wang, C. Daugherty, C. Morton, Fen Zhou, J. Campos-Torres, P. Leder (1996)
Pleiotropic defects in ataxia-telangiectasia protein-deficient mice.Proceedings of the National Academy of Sciences of the United States of America, 93 23
L. Bott, Jp Lebreton, C. Thumerelle, J. Cuvellier, Antoine Deschildre, Anne Sardet (2007)
Lung disease in ataxia‐telangiectasiaActa Paediatrica, 96
Paul Connelly, N. Smith, R. Chadwick, A. Exley, J. Shneerson, E. Pearson (2015)
Recessive mutations in the cancer gene Ataxia Telangiectasia Mutated (ATM), at a locus previously associated with metformin response, cause dysglycaemia and insulin resistanceDiabetic Medicine, 33
M Uhlen, L Fagerberg, BM Hallstrom (2015)
Proteomics. Tissue‐based map of the human proteome, 347
Heather Armata, D. Golebiowski, D. Jung, H. Ko, Jason Kim, H. Sluss (2010)
Requirement of the ATM/p53 Tumor Suppressor Pathway for Glucose HomeostasisMolecular and Cellular Biology, 30
T. O'Neill, Alison Dwyer, Y. Ziv, D. Chan, S. Lees-Miller, Robert Abraham, J. Lai, D. Hill, Y. Shiloh, L. Cantley, G. Rathbun (2000)
Utilization of Oriented Peptide Libraries to Identify Substrate Motifs Selected by ATM*The Journal of Biological Chemistry, 275
H. Teive, A. Moro, M. Moscovich, W. Arruda, R. Munhoz, S. Raskin, T. Ashizawa (2015)
Ataxia-telangiectasia — A historical review and a proposal for a new designation: ATM syndromeJournal of the Neurological Sciences, 355
Judith Metcalfe, J. Parkhill, L. Campbell, M. Stacey, P. Biggs, Philip Byrd, A. Taylor (1996)
Accelerated telomere shortening in ataxia telangiectasiaNature Genetics, 13
Y. Valentin-Vega, K. Maclean, Jacqueline Tait-Mulder, S. Milasta, Meredith Steeves, F. Dorsey, J. Cleveland, D. Green, M. Kastan (2012)
Mitochondrial dysfunction in ataxia-telangiectasia.Blood, 119 6
E. Privette, G. Ram, J. Treat, A. Yan, J. Heimall (2014)
Healing of Granulomatous Skin Changes in Ataxia‐Telangiectasia After Treatment with Intravenous Immunoglobulin and Topical Mometasone 0.1% OintmentPediatric Dermatology, 31
D. Watters, P. Kedar, K. Spring, J. Bjorkman, Phillip Chen, M. Gatei, G. Birrell, B. Garrone, Priyadashini Srinivasa, D. Crane, M. Lavin (1999)
Localization of a Portion of Extranuclear ATM to Peroxisomes*The Journal of Biological Chemistry, 274
G. Smith, S. Jackson (1999)
The DNA-dependent protein kinaseGenes & Development, 13
C. Sandoval, M. Swift (2003)
Hodgkin disease in ataxia-telangiectasia patients with poor outcomes.Medical and pediatric oncology, 40 3
V. Modell, J. Orange, J. Quinn, F. Modell (2018)
Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomesImmunologic Research, 66
Amos Etzioni, A. Ben‐Barak, Sophie Péron, A. Durandy (2007)
Ataxia-telangiectasia in twins presenting as autosomal recessive hyper-immunoglobulin M syndrome.The Israel Medical Association journal : IMAJ, 9 5
Da-Qing Yang, M. Halaby, Yan Li, J. Hibma, P. Burn (2011)
Cytoplasmic ATM protein kinase: an emerging therapeutic target for diabetes, cancer and neuronal degeneration.Drug discovery today, 16 7-8
Maureen Lefton-Greif, Thomas Crawford, Jerry Winkelstein, Gerald Loughlin, C. Koerner, Marianna Zahurak, H. Lederman (2000)
Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia.The Journal of pediatrics, 136 2
J. Kwong, M. Beal, G. Manfredi (2006)
The role of mitochondria in inherited neurodegenerative diseasesJournal of Neurochemistry, 97
C. Schofield, P. Ratcliffe (2004)
Oxygen sensing by HIF hydroxylasesNature Reviews Molecular Cell Biology, 5
R. Gatti, H. Vinters (1985)
Cerebellar pathology in ataxia-telangiectasia: the significance of basket cells.Kroc Foundation series, 19
J. Simonsen, C. Rosada, N. Serakinci, J. Justesen, K. Stenderup, S. Rattan, T. Jensen, M. Kassem (2002)
Telomerase expression extends the proliferative life-span and maintains the osteogenic potential of human bone marrow stromal cellsNature Biotechnology, 20
T. Gottlieb, S. Jackson (1993)
The DNA-dependent protein kinase: Requirement for DNA ends and association with Ku antigenCell, 72
GJ Driessen, H Ijspeert, CM Weemaes (2013)
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B‐ and T‐cell homeostasis and reduced immune repertoire diversity, 131
M. Arush (1999)
Treatment of lymphoid malignancies in patients with ataxia-telangiectasia.Medical and pediatric oncology, 32 6
Saleh Ghiasy, L. Parvaneh, G. Azizi, Ghazal Sadri, Majid dizaji, Hassan Abolhassani, A. Aghamohammadi (2017)
The clinical significance of complete class switching defect in Ataxia telangiectasia patientsExpert Review of Clinical Immunology, 13
M. Cabana, T. Crawford, J. Winkelstein, J. Christensen, H. Lederman (1998)
Consequences of the Delayed Diagnosis of Ataxia-TelangiectasiaPediatrics, 102
P. Mohammadinejad, Hassan Abolhassani, A. Aghamohammadi, S. Pourhamdi, Sujal Ghosh, B. Sadeghi, R. Kalmarzi, A. Durandy, A. Borkhardt (2015)
Class Switch Recombination Process in Ataxia Telangiectasia Patients with Elevated Serum Levels of IgMJournal of Immunoassay and Immunochemistry, 36
A. Shaikh, S. Marti, Alexander Tarnutzer, A. Palla, Thomas Crawford, Dominik Straumann, John Carey, K. Nguyen, David Zee (2011)
Ataxia telangiectasia: a "disease model" to understand the cerebellar control of vestibular reflexes.Journal of neurophysiology, 105 6
S. Gilad, L. Chessa, R. Khosravi, P. Russell, Y. Galanty, M. Piane, R. Gatti, T. Jorgensen, Y. Shiloh, A. Bar‐Shira (1998)
Genotype-phenotype relationships in ataxia-telangiectasia and variants.American journal of human genetics, 62 3
D. Morrell, E. Cromartie, M. Swift (1986)
Mortality and cancer incidence in 263 patients with ataxia-telangiectasia.Journal of the National Cancer Institute, 77 1
G. Pagano, L. Korkina, U. Brunk, L. Chessa, P. Degan, D. Principe, F. Kelly, W. Malorni, F. Pallardo, C. Pasquier, I. Scovassi, A. Zatterale, C. Franceschi (1998)
Congenital disorders sharing oxidative stress and cancer proneness as phenotypic hallmarks: prospects for joint research in pharmacology.Medical hypotheses, 51 3
I. Meyts, C. Weemaes, C. Wolf‐Peeters, M. Proesmans, M. Renard, A. Uyttebroeck, K. Boeck (2003)
Unusual and severe disease course in a child with ataxia‐telangiectasiaPediatric Allergy and Immunology, 14
Joseph Kulinski, Steven Leonardo, Bryan Mounce, L. Malherbe, S. Gauld, V. Tarakanova (2012)
Ataxia Telangiectasia Mutated Kinase Controls Chronic Gammaherpesvirus InfectionJournal of Virology, 86
OO Adigun, SS Bhimji (2018)
Alpha Fetoprotein (AFP, Maternal Serum Alpha Fetoprotein, MSAFP). StatPearls
M. Lavin (2008)
Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancerNature Reviews Molecular Cell Biology, 9
S Kishi, KP Lu (2002)
A critical role for Pin2/TRF1 in ATM‐dependent regulation. Inhibition of Pin2/TRF1 function complements telomere shortening, radiosensitivity, and the G(2)/M checkpoint defect of ataxia‐telangiectasia cells, 277
Kristine Breuer, Ralf Gutzmer, Bernward Völker, Alexander Kapp, T. Werfel (2005)
Therapy of noninfectious granulomatous skin diseases with fumaric acid estersBritish Journal of Dermatology, 152
J. Pietzner, P. Baer, R. Duecker, M. Merscher, C. Satzger-Prodinger, I. Bechmann, A. Wietelmann, D. Turco, C. Doering, S. Kuçi, P. Bader, S. Schirmer, S. Zielen, R. Schubert (2013)
Bone marrow transplantation improves the outcome of Atm-deficient mice through the migration of ATM-competent cells.Human molecular genetics, 22 3
A. Farr, B. Shalev, T. Crawford, H. Lederman, J. Winkelstein, M. Repka (2002)
Ocular manifestations of ataxia-telangiectasia.American journal of ophthalmology, 134 6
M. Ussowicz, J. Musiał, E. Duszeńko, O. Haus, K. Kałwak (2013)
Long-term survival after allogeneic-matched sibling PBSC transplantation with conditioning consisting of low-dose busilvex and fludarabine in a 3-year-old boy with ataxia-telangiectasia syndrome and ALLBone Marrow Transplantation, 48
M. Moin, A. Aghamohammadi, A. Kouhi, S. Tavassoli, N. Rezaei, S. Ghaffari, M. Gharagozlou, M. Movahedi, Z. Purpak, B. Ghazi, M. Mahmoudi, A. Farhoudi (2007)
Ataxia-telangiectasia in Iran: clinical and laboratory features of 104 patients.Pediatric neurology, 37 1
T. Crawford, R. Skolasky, R. Fernández, K. Rosquist, H. Lederman (2005)
Survival probability in ataxia telangiectasiaArchives of Disease in Childhood, 91
T. Kojis, R. Gatti, R. Sparkes (1991)
The cytogenetics of ataxia telangiectasia.Cancer genetics and cytogenetics, 56 2
M. Schoenaker, F. Suarez, T. Szczepański, N. Mahlaoui, J. Loeffen (2016)
Treatment of acute leukemia in children with ataxia telangiectasia (A-T).European journal of medical genetics, 59 12
T. Pearson (2016)
More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia SyndromesTremor and Other Hyperkinetic Movements, 6
Julian Lange, Jing Pan, F. Cole, M. Thelen, M. Jasin, S. Keeney (2011)
ATM controls meiotic double-strand break formationNature, 479
J. Reddy, T. Hashimoto (2001)
PEROXISOMAL β-OXIDATION AND PEROXISOME PROLIFERATOR–ACTIVATED RECEPTOR α: An Adaptive Metabolic SystemAnnual Review of Nutrition, 21
R. Micol, Lilia Slama, F. Suarez, L. Mignot, Julien Beaut, N. Mahlaoui, C. d’Enghien, Anthony Laug, Janet Hall, erôme Couturier, B. Delobel, F. Rivier, K. Nguyen, T. Villemeur, J. Stéphan, P. Bordigoni, Y. Bertrand, N. Aladjidi, J. Pedespan, C. Thomas, I. Pellier, M. Koenig, O. Hermine, C. Picard, D. Moshous, F. Lanternier, ephane Blanche, M. Tardieu, Marianne Debr, A. Fischer, D. Stoppa-Lyonnet (2011)
Immune deficiencies , infection , and systemic immune disorders Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype
Zhi Guo, S. Kozlov, M. Lavin, M. Person, T. Paull (2010)
ATM Activation by Oxidative StressScience, 330
J. Viniegra, N. Martínez, Pegah Modirassari, J. Losa, C. Cobo, V. Lobo, C. Luquero, L. Álvarez-Vallina, S. Cajal, J. Rojas, R. Sánchez-Prieto (2005)
Full Activation of PKB/Akt in Response to Insulin or Ionizing Radiation Is Mediated through ATM*Journal of Biological Chemistry, 280
M. Ament (1969)
Respiratory complications of ataxia-telangiectasia.The New England journal of medicine, 281 18
E. Antony, G. Jones, A. Venn, F. Cicuttini, L. March, L. Blizzard, T. Dwyer, M. Cross, C. Ding (2013)
THE ASSOCIATION BETWEEN CHILDHOOD OBESITY MEASURES AND ADULTHOOD KNEE PAIN, STIFFNESS AND PHYSICAL DYSFUNCTION: A 25-YEAR COHORT STUDYInternal Medicine Journal, 43
Ishani Sahama, K. Sinclair, K. Pannek, M. Lavin, S. Rose (2014)
Radiological Imaging in Ataxia Telangiectasia: a ReviewThe Cerebellum, 13
A. Nowak‐Wegrzyn, T. Crawford, J. Winkelstein, K. Carson, H. Lederman (2004)
Immunodeficiency and infections in ataxia-telangiectasia.The Journal of pediatrics, 144 4
D. Umetsu, D. Ambrosino, I. Quinti, G. Siber, R. Geha (1985)
Recurrent sinopulmonary infection and impaired antibody response to bacterial capsular polysaccharide antigen in children with selective IgG-subclass deficiency.The New England journal of medicine, 313 20
R. Gatti, Sara Becker-Catania, Helen Chun, Xia Sun, M. Mitui, Chih‐hung Lai, N. Khanlou, M. Babaei, R. Cheng, C. Clark, Y. Huo, N. Udar, R. Iyer (2001)
The pathogenesis of ataxia-telangiectasiaClinical Reviews in Allergy & Immunology, 20
A. Nissenkorn, Y. Levy-Shraga, Yonit Banet-Levi, A. Lahad, I. Sarouk, D. Modan-Moses (2016)
Endocrine abnormalities in ataxia telangiectasia: findings from a national cohortPediatric Research, 79
A. Antoniou, P. Pharoah, Paula Smith, D. Easton (2004)
The BOADICEA model of genetic susceptibility to breast and ovarian cancerBritish Journal of Cancer, 91
Marielle Ousset, Fanny Bouquet, F. Fallone, D. Biard, C. Dray, P. Valet, B. Salles, C. Muller (2010)
Loss of ATM positively regulates the expression of hypoxia inducible factor 1 (HIF-1) through oxidative stress: Role in the physiopathology of the diseaseCell Cycle, 9
O. Sanal, F. Ersoy, L. Yel, I. Tezcan, Ayse Metin, H. Özyürek, S. Gariboğlu, S. Fikrig, A. Berkel, Ger Rijkers, B. Zegers (1999)
Impaired IgG Antibody Production to Pneumococcal Polysaccharides in Patients with Ataxia–TelangiectasiaJournal of Clinical Immunology, 19
Y. Shiloh (2003)
ATM and related protein kinases: safeguarding genome integrityNature Reviews Cancer, 3
M. Swift, D. Morrell, Ruby Massey, C. Chase (1991)
Incidence of cancer in 161 families affected by ataxia-telangiectasia.The New England journal of medicine, 325 26
O. Adigun, S. Khetarpal (2019)
Alpha Fetoprotein (AFP, Maternal Serum Alpha Fetoprotein, MSAFP)
Andrea Bredemeyer, G. Sharma, Ching‐Yu Huang, B. Helmink, Laura Walker, Katrina Khor, B. Nuskey, K. Sullivan, T. Pandita, C. Bassing, B. Sleckman (2006)
ATM stabilizes DNA double-strand-break complexes during V(D)J recombinationNature, 442
M. Fiorilli, L. Businco, F. Pandolfi, R. Paganelli, G. Russo, F. Aiuti (1983)
Heterogeneity of immunological abnormalities in ataxia-telangiectasiaJournal of Clinical Immunology, 3
M. Ambrose, Jimena Goldstine, R. Gatti (2007)
Intrinsic mitochondrial dysfunction in ATM-deficient lymphoblastoid cells.Human molecular genetics, 16 18
S. Kim, D. Lim, C. Canman, M. Kastan (1999)
Substrate Specificities and Identification of Putative Substrates of ATM Kinase Family Members*The Journal of Biological Chemistry, 274
J. Olsen, J. Hahnemann, A. Børresen-Dale, K. Brøndum‐Nielsen, L. Hammarström, R. Kleinerman, H. Kääriäinen, T. Lönnqvist, R. Sankila, N. Seersholm, S. Tretli, J. Yuen, J. Boice, M. Tucker (2001)
Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries.Journal of the National Cancer Institute, 93 2
J. Schneider, B. Finck, Jie Ren, Kara Standley, M. Takagi, K. Maclean, C. Bernal‐Mizrachi, Anthony Muslin, M. Kastan, C. Semenkovich (2006)
ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome.Cell metabolism, 4 5
S. Bakhtiar, S. Woelke, S. Huenecke, M. Kieslich, A. Taylor, R. Schubert, S. Zielen, P. Bader (2018)
Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia TelangiectasiaFrontiers in Immunology, 9
J. Reddy, T. Hashimoto (2001)
Peroxisomal beta-oxidation and peroxisome proliferator-activated receptor alpha: an adaptive metabolic system.Annual review of nutrition, 21
S. McGrath-Morrow, W. Gower, C. Rothblum-Oviatt, A. Brody, C. Langston, L. Fan, M. Lefton-Greif, T. Crawford, M. Troche, J. Sandlund, P. Auwaerter, B. Easley, G. Loughlin, J. Carroll, H. Lederman (2010)
Evaluation and management of pulmonary disease in ataxia‐telangiectasiaPediatric Pulmonology, 45
A. Renwick, Deborah Thompson, S. Seal, P. Kelly, T. Chagtai, Munaza Ahmed, B. North, H. Jayatilake, R. Barfoot, Katarina Spanova, L. McGuffog, D. Evans, D. Eccles, D. Easton, M. Stratton, N. Rahman, The Collaboration (2006)
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility allelesNature Genetics, 38
Canny Gj, C. Roifman, S. Weitzman, M. Braudo, Henry Levison (1988)
A pulmonary infiltrate in a child with ataxia telangiectasia.Annals of allergy, 61 6
Alejandro Álvarez-Quilón, Almudena Serrano-Benitez, Jenna Lieberman, Cristina Quintero, Daniel Sánchez-Gutiérrez, Luis Escudero, Felipe Cortés-Ledesma (2014)
ATM specifically mediates repair of double-strand breaks with blocked DNA endsNature Communications, 5
松田 永照 (2001)
Targeting of Kruppel-associated Box-containing Zinc-finger Proteins to Centromeric Heterochromatin : Implication for the Gene Silencing Mechanisms
R. Peterson, WilliamD. Kelly, R. Good (1964)
ATAXIA-TELANGIECTASIA. ITS ASSOCIATION WITH A DEFECTIVE THYMUS, IMMUNOLOGICAL-DEFICIENCY DISEASE, AND MALIGNANCY.Lancet, 1 7344
A. Stray-Pedersen, T. Jonsson, A. Heiberg, C. Lindman, E. Widing, I. Aaberge, A. Børresen-Dale, T. Abrahamsen (2004)
The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia‐telangiectasia patients and their parentsClinical & Experimental Immunology, 137
S. Kishi, Xiao Zhou, Y. Ziv, C. Khoo, D. Hill, Y. Shiloh, K. Lu (2001)
Telomeric Protein Pin2/TRF1 as an Important ATM Target in Response to Double Strand DNA Breaks*The Journal of Biological Chemistry, 276
C. Bakkenist, M. Kastan (2003)
DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociationNature, 421
R Micol, L Ben Slama, F Suarez (2011)
Morbidity and mortality from ataxia‐telangiectasia are associated with ATM genotype, 128
Y. Lee, P. Mckinnon (2007)
Responding to DNA double strand breaks in the nervous systemNeuroscience, 145
R. Buckley (1975)
Bone marrow and thymus transplantation in ataxia-telangiectasia.Birth defects original article series, 11 1
A. Aghamohammadi, K. Imai, K. Moazzami, Hassan Abolhassani, M. Tabatabaeiyan, N. Parvaneh, R. Kalmarzi, N. Nakagawa, K. Oshima, O. Ohara, S. Nonoyama, N. Rezaei (2010)
Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin M syndrome.Journal of investigational allergology & clinical immunology, 20 5
A. Shaikh, D. Zee, A. Mandir, H. Lederman, T. Crawford (2013)
Disorders of Upper Limb Movements in Ataxia-TelangiectasiaPLoS ONE, 8
Richard Lewis, H. Lederman, T. Crawford (1999)
Ocular motor abnormalities in ataxia telangiectasiaAnnals of Neurology, 46
D. Goldowitz, K. Hamre (1998)
The cells and molecules that make a cerebellumTrends in Neurosciences, 21
Asbjørg Stray-Pedersen, Asbjørg Stray-Pedersen, A. Børresen-Dale, E. Paus, C. Lindman, T. Burgers, Tore Abrahamsen, Tore Abrahamsen (2007)
Alpha fetoprotein is increasing with age in ataxia-telangiectasia.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 11 6
M. Telatar, Zhijun Wang, S. Castellví-Bel, L. Tai, S. Sheikhavandi, J. Regueiro, O. Porras, R. Gatti (1998)
A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.Molecular genetics and metabolism, 64 1
J. Slack, M. Albert, D. Balashov, B. Belohradsky, A. Bertaina, J. Bleesing, C. Booth, J. Buechner, R. Buckley, M. Ouachée-Chardin, E. Deripapa, K. Drabko, M. Eapen, T. Feuchtinger, A. Finocchi, H. Gaspar, Sujal Ghosh, A. Gillio, L. González-Granado, E. Grunebaum, T. Güngör, C. Heilmann, M. Helminen, K. Higuchi, K. Imai, K. Kałwak, Nubuo Kanazawa, G. Karasu, Z. Kucuk, A. Laberko, A. Lange, N. Mahlaoui, R. Meisel, D. Moshous, H. Muramatsu, S. Parikh, S. Pašić, I. Schmid, C. Schuetz, A. Schulz, K. Schultz, P. Shaw, M. Slatter, K. Sykora, S. Tamura, M. Taskinen, A. Wawer, B. Wolska-Kusnierz, M. Cowan, A. Fischer, A. Gennery, Marrow Transplantation (2018)
Outcome of hematopoietic cell transplantation for DNA double‐strand break repair disordersThe Journal of Allergy and Clinical Immunology, 141
M. Lavin, N. Gueven, S. Bottle, R. Gatti (2007)
Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia.British medical bulletin, 81-82
E. Matsuda, Y. Agata, M. Sugai, T. Katakai, Hiroyuki Gonda, A. Shimizu (2001)
Targeting of Krüppel-associated Box-containing Zinc Finger Proteins to Centromeric HeterochromatinThe Journal of Biological Chemistry, 276
D. Durocher, S. Jackson (2001)
DNA-PK, ATM and ATR as sensors of DNA damage: variations on a theme?Current opinion in cell biology, 13 2
S. Gilad, R. Khosravi, D. Shkedy, T. Uziel, Y. Ziv, K. Savitsky, G. Rotman, S. Smith, L. Chessa, T. Jorgensen, R. Harnik, M. Frydman, O. Sanal, S. Portnoi, Zipora Goldwicz, N. Jaspers, R. Gatti, G. Lenoir, M. Lavin, K. Tatsumi, R. Wegner, Y. Shiloh, A. Bar‐Shira (1996)
Predominance of null mutations in ataxia-telangiectasia.Human molecular genetics, 5 4
Monica Marabelli, Su-Chun Cheng, G. Parmigiani (2016)
Penetrance of ATM Gene Mutations in Breast Cancer: A Meta‐Analysis of Different Measures of RiskGenetic Epidemiology, 40
S. Perlman, Sara Becker-Catania, R. Gatti (2003)
Ataxia-telangiectasia: diagnosis and treatment.Seminars in pediatric neurology, 10 3
A. Mitra, J. Gooi, J. Darling, J. Newton-Bishop (2011)
Infliximab in the treatment of a child with cutaneous granulomas associated with ataxia telangiectasia.Journal of the American Academy of Dermatology, 65 3
C. Helt, W. Cliby, P. Keng, R. Bambara, M. O’Reilly (2005)
Ataxia Telangiectasia Mutated (ATM) and ATM and Rad3-related Protein Exhibit Selective Target Specificities in Response to Different Forms of DNA Damage*Journal of Biological Chemistry, 280
Y. Iwata, A. Yoshizaki, K. Komura, K. Shimizu, F. Ogawa, T. Hara, E. Muroi, S. Bae, M. Takenaka, Toru Yukami, M. Hasegawa, M. Fujimoto, Y. Tomita, T. Tedder, S. Sato (2009)
CD19, a response regulator of B lymphocytes, regulates wound healing through hyaluronan-induced TLR4 signaling.The American journal of pathology, 175 2
R. Gatti, A. Tward, P. Concannon (1999)
Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations.Molecular genetics and metabolism, 68 4
J. Bagley, G. Singh, J. Iacomini (2007)
Regulation of Oxidative Stress Responses by Ataxia-Telangiectasia Mutated Is Required for T Cell Proliferation1The Journal of Immunology, 178
E. Pippard, A. Hall, D. Barker, B. Bridges, ¡e P (1988)
Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain.Cancer research, 48 10
J. Eaton, Z. Lin, A. Sartorelli, Nicholas Bonawitz, G. Shadel (2007)
Ataxia-telangiectasia mutated kinase regulates ribonucleotide reductase and mitochondrial homeostasis.The Journal of clinical investigation, 117 9
E. Boder, R. Sedgwick (1970)
Ataxia-telangiectasia. (Clinical and immunological aspects).Psychiatrie, Neurologie und medizinische Psychologie. Beihefte, 13-14
JG Noordzij, Nico Wulffraat, Ásgeir Haraldsson, Isabelle Meyts, L. Veer, F. Hogervorst, A. Warris, CORRY M. Weemaes (2009)
Ataxia–telangiectasia patients presenting with hyper-IgM syndromeArchives of Disease in Childhood, 94
Yang Xu, T. Ashley, E. Brainerd, R. Bronson, M. Meyn, David imore (1996)
Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma.Genes & development, 10 19
M. Hall, A. Forman, R. Pilarski, G. Wiesner, V. Giri (2014)
Gene panel testing for inherited cancer risk.Journal of the National Comprehensive Cancer Network : JNCCN, 12 9
Jiangwei Zhang, D. Tripathi, Ji Jing, Angela Alexander, Jinhe Kim, Reid Powell, R. Dere, Jacqueline Tait-Mulder, Ji‐Hoon Lee, T. Paull, R. Pandita, V. Charaka, T. Pandita, M. Kastan, C. Walker (2015)
ATM Functions at the Peroxisome to Induce Pexophagy in Response to ROSNature cell biology, 17
G. Driessen, Hanna Ijspeert, C. Weemaes, Á. Haraldsson, M. Trip, A. Warris, M. Flier, N. Wulffraat, M. Verhagen, Malcolm Taylor, M. Zelm, J. Dongen, M. Deuren
Immune deficiencies , infection , and systemic immune disorders Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed Band T-cell homeostasis and reduced immune repertoire diversity
L. Cohen, D. Tanner, H. Schaefer, W. Levis (1984)
Common and uncommon cutaneous findings in patients with ataxia-telangiectasia.Journal of the American Academy of Dermatology, 10 3
H. Lehman (2014)
Skin Manifestations of Primary Immune DeficiencyClinical Reviews in Allergy & Immunology, 46
M. Takamiya, S. Fujita, K. Saigusa, Y. Aoki (2008)
Simultaneous detection of eight cytokines in human dermal wounds with a multiplex bead-based immunoassay for wound age estimationInternational Journal of Legal Medicine, 122
Helen Chun, R. Gatti (2004)
Ataxia-telangiectasia, an evolving phenotype.DNA repair, 3 8-9
A Nissenkorn, S Hassin‐Baer, SF Lerman, YB Levi, M Tzadok, B Ben‐Zeev (2013)
Movement disorder in ataxia‐telangiectasia: treatment with amantadine sulfate, 28
S. Summers, M. Birnbaum (1997)
A role for the serine/threonine kinase, Akt, in insulin-stimulated glucose uptake.Biochemical Society transactions, 25 3
Scott Ditch, T. Paull (2012)
The ATM protein kinase and cellular redox signaling: beyond the DNA damage response.Trends in biochemical sciences, 37 1
F. Hoche, K. Seidel, M. Theis, S. Vlaho, R. Schubert, S. Zielen, M. Kieslich (2012)
Neurodegeneration in Ataxia Telangiectasia: What Is New? What Is Evident?Neuropediatrics, 43
L. Chiam, M. Verhagen, Ásgeir Haraldsson, Nico Wulffraat, Gertjan Driessen, M. Netea, CORRY M. Weemaes, M. Seyger, M. Deuren (2011)
Cutaneous Granulomas in Ataxia Telangiectasia and Other Primary Immunodeficiencies: Reflection of Inappropriate Immune Regulation?Dermatology, 223
K. Zhou, C. Bellenguez, C. Spencer, A. Bennett, R. Coleman, R. Tavendale, S. Hawley, L. Donnelly, C. Schofield, C. Groves, L. Burch, Fiona Carr, A. Strange, C. Freeman, Jenefer Blackwell, E. Bramon, Matthew Brown, J. Casas, A. Corvin, N. Craddock, P. Deloukas, S. Dronov, A. Duncanson, S. Edkins, Emma Gray, S. Hunt, Janusz Jankowski, C. Langford, Hugh Markus, Christopher Mathew, R. Plomin, A. Rautanen, S. Sawcer, Nilesh Samani, R. Trembath, A. Viswanathan, Nicholas Wood, L. Harries, A. Hattersley, A. Doney, H. Colhoun, A. Morris, C. Sutherland, D. Hardie, L. Peltonen, M. McCarthy, R. Holman, C. Palmer, Peter Donnelly, E. Pearson (2010)
Common variants near ATM are associated with glycemic response to metformin in type 2 diabetesNature genetics, 43
A. Reiman, V. Srinivasan, G. Barone, J. Last, Ll Wootton, Eg Davies, Mm Verhagen, Ma Willemsen, Cm Weemaes, P. Byrd, L. Izatt, D. Easton, Dj Thompson, Am Taylor (2011)
Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumoursBritish Journal of Cancer, 105
A. Goodarzi, P. Jeggo, M. Lobrich (2010)
The influence of heterochromatin on DNA double strand break repair: Getting the strong, silent type to relax.DNA repair, 9 12
M. Telatar, Zhijun Wang, N. Udar, T. Liang, E. Bernatowska-Matuszkiewicz, M. Lavin, Y. Shiloh, P. Concannon, R. Good, R. Gatti (1996)
Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.American journal of human genetics, 59 1
J. Bagley, M. Cortés, X. Breakefield, J. Iacomini (2004)
Bone marrow transplantation restores immune system function and prevents lymphoma in Atm-deficient mice.Blood, 104 2
A. Fernandez, E. Carro, C. López-López, I. Torres-Alemán (2005)
Insulin-like growth factor I treatment for cerebellar ataxia: Addressing a common pathway in the pathological cascade?Brain Research Reviews, 50
T. Broccoletti, E. Giudice, S. Amorosi, I. Russo, M. Bonito, F. Imperati, A. Romano, C. Pignata (2008)
Steroid‐induced improvement of neurological signs in ataxia‐telangiectasia patientsEuropean Journal of Neurology, 15
Rong-Long Chen, Pen-Jung Wang, Yung-Hsiung Hsu, P. Chang, Jye-Siung Fang (2002)
Severe lung fibrosis after chemotherapy in a child with ataxia-telangiectasia.Journal of pediatric hematology/oncology, 24 1
F. Suarez, N. Mahlaoui, D. Canioni, Chantal Andriamanga, Catherine d’Enghien, N. Brousse, J. Jais, A. Fischer, O. Hermine, D. Stoppa-Lyonnet (2015)
Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies.Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 33 2
Richard Gatti, Í. Berkel, E. Boder, G. Braedt, P. Charmley, P. Concannon, F. Ersoy, T. Foroud, Nicholas Jaspers, K. Lange, G. Lathrop, M. Leppert, Yusuke Nakamura, P. O'Connell, M. Paterson, W. Salser, O. Sanal, J. Silver, Robert Sparkes, E. Susi, Daniel Weeks, Shan Wei, Raymond White, Freda Yoder (1988)
Localization of an ataxia-telangiectasia gene to chromosome 11q22–23Nature, 336
N. Bobba, M. Kaplan (2005)
Immunodeficiency and Infections in Ataxia-TelangiectasiaPediatrics, 116
T Waldmann (1982)
Ataxia‐telangiectasia: A Cellar and Molecular Link between Cancer Neuropthology and Immune Deficiency, 21
D. Schalch, D. McFarlin, M. Barlow (1970)
An unusual form of diabetes mellitus in ataxia telangiectasia.The New England journal of medicine, 282 25
Ataxia‐telangiectasia (A‐T) is an autosomal recessive primary immunodeficiency (PID) disease that is caused by mutations in ataxia‐telangiectasia mutated (ATM) gene encoding a serine/threonine protein kinase. A‐T patients represent a broad range of clinical manifestations including progressive cerebellar ataxia, oculocutaneous telangiectasia, variable immunodeficiency, radiosensitivity, susceptibility to malignancies, and increased metabolic diseases. This congenital disorder has phenotypic heterogeneity, and the severity of symptoms varies in different patients based on severity of mutations and disease progression. The principal role of nuclear ATM is the coordination of cellular signaling pathways in response to DNA double‐strand breaks, oxidative stress, and cell cycle checkpoint. The pathogenesis of A‐T is not limited to the role of ATM in the DNA damage response (DDR) pathway, and it has other functions mainly in the hematopoietic cells and neurons. ATM adjusts the functions of organelles such as mitochondria and peroxisomes and also regulates angiogenesis and glucose metabolisms. However, ATM has other functions in the cells (especially cell viability) that need further investigations. In this review, we described functions of ATM in the nucleus and cytoplasm, and also its association with some disorder formation such as neurologic, immunologic, vascular, pulmonary, metabolic, and dermatologic complications.
Pediatric Allergy and Immunology – Wiley
Published: May 1, 2019
Keywords: ; ; ;
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.