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Activation of NRF2 by dexamethasone in ataxia telangiectasia cells involves KEAP1 inhibition but not the inhibition of p38

PloS one, 2019-05, Vol.14 (5), p.e0216668-e0216668

2019

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Proteomics and transcriptomics analyses of ataxia telangiectasia cells treated with Dexamethasone

PloS one, 2018-04, Vol.13 (4), p.e0195388

2018

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Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial

Orphanet journal of rare diseases, 2014-01, Vol.9 (1), p.5-5, Article 5

2014

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A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia

Movement disorders, 2012-09, Vol.27 (10), p.1312-1316

2012

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Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage

The Journal of cell biology, 2007-06, Vol.177 (6), p.969-979

2007

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ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T

Orphanet journal of rare diseases, 2017-07, Vol.12 (1), p.126-126, Article 126

2017

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Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone

Frontiers in genetics, 2021-10, Vol.12, p.759467

2021

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Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia

Neurology : neuroimmunology & neuroinflammation, 2015-06, Vol.2 (3), p.e98-e98

2015

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Activation of ATM and Chk2 kinases in relation to the amount of DNA strand breaks

Oncogene, 2004-10, Vol.23 (46), p.7691-7700

2004

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Chk2 Activation Dependence on Nbs1 after DNA Damage

Molecular and Cellular Biology, 2001-08, Vol.21 (15), p.5214-5222

2001

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Cutaneous Venous Malformations Related to KRIT1 Mutation: Case Report and Literature Review

Journal of molecular neuroscience, 2013-10, Vol.51 (2), p.442-445

2013

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Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences

American journal of human genetics, 1999-06, Vol.64 (6), p.1617-1631

1999

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Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT gene

American journal of medical genetics. Part A, 2009-11, Vol.149A (11), p.2452-2456

2009

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Ataxia‐telangiectasia‐mutated dependent phosphorylation of Artemis in response to DNA damage

Cancer science, 2005-02, Vol.96 (2), p.134-141

2005

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Impact of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations on male infertility

Archivio italiano di urologia, andrologia, 2014-09, Vol.86 (3), p.171

2014

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Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia

PloS one, 2008-06, Vol.3 (6), p.e2458-e2458

2008

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Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report

Italian journal of pediatrics, 2010-04, Vol.36 (1), p.29-29

2010

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Dexamethasone Partially Rescues Ataxia Telangiectasia-mutated (ATM) Deficiency in Ataxia Telangiectasia by Promoting a Shortened Protein Variant Retaining Kinase Activity

The Journal of biological chemistry, 2012-11, Vol.287 (49), p.41352-41363

2012

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Current and future therapeutic strategies to treat ataxia telangiectasia

Expert opinion on orphan drugs, 2014-09, Vol.2 (9), p.877-887

Chessa, Luciana

2014

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Dexamethasone improves redox state in ataxia telangiectasia cells by promoting an NRF2‐mediated antioxidant response

The FEBS journal, 2016-11, Vol.283 (21), p.3962-3978

2016

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The Ataxia-Telangiectasia Gene Product, a Constitutively Expressed Nuclear Protein that is not Up-Regulated Following Genome Damage

Proceedings of the National Academy of Sciences - PNAS, 1997-03, Vol.94 (5), p.1840-1845

1997

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Progress and prospects for treating ataxia telangiectasia

Expert opinion on orphan drugs, 2019-05, Vol.7 (5), p.233-251

2019

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Ataxia-Telangiectasia: Identification and Detection of Founder-Effect Mutations in the ATM Gene in Ethnic Populations

American journal of human genetics, 1998-01, Vol.62 (1), p.86-97

1998

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p53 mitotic centrosome localization preserves centrosome integrity and works as sensor for the mitotic surveillance pathway

Cell death & disease, 2019-11, Vol.10 (11), p.850-16, Article 850

2019

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Activation of NRF2 by dexamethasone in ataxia telangiectasia cells involves KEAP1 inhibition but not the inhibition of p38

Proteomics and transcriptomics analyses of ataxia telangiectasia cells treated with Dexamethasone

Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia

Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage

ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T

Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone

Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia

Activation of ATM and Chk2 kinases in relation to the amount of DNA strand breaks

Chk2 Activation Dependence on Nbs1 after DNA Damage

Cutaneous Venous Malformations Related to KRIT1 Mutation: Case Report and Literature Review

Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT gene

Ataxia‐telangiectasia‐mutated dependent phosphorylation of Artemis in response to DNA damage

Impact of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations on male infertility

Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia

Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report

Dexamethasone Partially Rescues Ataxia Telangiectasia-mutated (ATM) Deficiency in Ataxia Telangiectasia by Promoting a Shortened Protein Variant Retaining Kinase Activity

Current and future therapeutic strategies to treat ataxia telangiectasia

Dexamethasone improves redox state in ataxia telangiectasia cells by promoting an NRF2‐mediated antioxidant response

The Ataxia-Telangiectasia Gene Product, a Constitutively Expressed Nuclear Protein that is not Up-Regulated Following Genome Damage

Progress and prospects for treating ataxia telangiectasia

Ataxia-Telangiectasia: Identification and Detection of Founder-Effect Mutations in the ATM Gene in Ethnic Populations

p53 mitotic centrosome localization preserves centrosome integrity and works as sensor for the mitotic surveillance pathway

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