Cargando…

Atm reactivation reverses ataxia telangiectasia phenotypes in vivo

Hereditary deficiencies in DNA damage signaling are invariably associated with cancer predisposition, immunodeficiency, radiation sensitivity, gonadal abnormalities, premature aging, and tissue degeneration. ATM kinase has been established as a central player in DNA double-strand break repair and it...

Descripción completa

Detalles Bibliográficos
Autores principales:	Di Siena, Sara, Campolo, Federica, Gimmelli, Roberto, Di Pietro, Chiara, Marazziti, Daniela, Dolci, Susanna, Lenzi, Andrea, Nussenzweig, Andre, Pellegrini, Manuela
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5833483/ https://www.ncbi.nlm.nih.gov/pubmed/29472706 http://dx.doi.org/10.1038/s41419-018-0357-8

Ejemplares similares

ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer
por: Putti, Sabrina, et al.
Publicado: (2021)

New human ATM variants are able to regain ATM functions in ataxia telangiectasia disease
por: Ricci, Anastasia, et al.
Publicado: (2022)

Identification of ATM Mutations in Korean Siblings with Ataxia-Telangiectasia
por: Huh, Hee Jae, et al.
Publicado: (2013)

Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene
por: Jeong, Heejeong, et al.
Publicado: (2014)

Ten new ATM alterations in Polish patients with ataxia-telangiectasia
por: Podralska, Marta Joanna, et al.
Publicado: (2014)

Loss of atm in Zebrafish as a Model of Ataxia–Telangiectasia Syndrome
por: Chen, Kehua, et al.
Publicado: (2022)

Association of Ataxia Telangiectasia Mutated (ATM) gene mutation/deletion with Rhabdomyosarcoma
por: Zhang, Peilin, et al.
Publicado: (2003)

Twelve Novel Atm Mutations Identified in Chinese Ataxia Telangiectasia Patients
por: Huang, Yu, et al.
Publicado: (2013)

Ibuprofen prevents progression of ataxia telangiectasia symptoms in ATM-deficient mice
por: Hui, Chin Wai, et al.
Publicado: (2018)

Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia
por: Shalash, Ali S., et al.
Publicado: (2021)

DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations
por: Magliozzi, Monia, et al.
Publicado: (2006)

Association of Ataxia Telangiectasia Mutated (ATM) Gene Mutation/Deletion with Rhabdomyosarcoma – retraction
por: Zhang, Peilin, et al.
Publicado: (2003)

Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia-telangiectasia
por: Li, Jiali, et al.
Publicado: (2012)

Erratum to: Twelve Novel Atm Mutations Identified in Chinese Ataxia Telangiectasia Patients
por: Huang, Yu, et al.
Publicado: (2013)

Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families
por: Renault, Anne-Laure, et al.
Publicado: (2017)

A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia
por: SAEIDI, Kolsoum, et al.
Publicado: (2018)

Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia
por: Hettiarachchi, D., et al.
Publicado: (2020)

Quantitative Phosphoproteomics of the Ataxia Telangiectasia-Mutated (ATM) and Ataxia Telangiectasia-Mutated and Rad3-related (ATR) Dependent DNA Damage Response in Arabidopsis thaliana
por: Roitinger, Elisabeth, et al.
Publicado: (2015)

Clinicopathological significance of ataxia telangiectasia-mutated (ATM) kinase and ataxia telangiectasia-mutated and Rad3-related (ATR) kinase in MYC overexpressed breast cancers
por: Savva, Constantinos, et al.
Publicado: (2019)

ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes
por: Delia, D, et al.
Publicado: (2000)

Ataxia Telangiectasia-Mutated (ATM)Polymorphisms and Risk of Lung Cancer in a Chinese Population
por: Myneni, Ajay A., et al.
Publicado: (2017)

Development of an Immunohistochemical Assay to Detect the Ataxia-Telangiectasia Mutated (ATM) Protein in Gastric Carcinoma
por: Miller, Rachel M., et al.
Publicado: (2020)

In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients
por: Pozzi, Elisa, et al.
Publicado: (2020)

Mutation at Intronic Repeats of the Ataxia-Telangiectasia Mutated (ATM) Gene and ATM Protein Loss in Primary Gastric Cancer with Microsatellite Instability
por: Kim, Hee Sung, et al.
Publicado: (2013)

Ataxia telangiectasia mutated (ATM) interacts with p400 ATPase for an efficient DNA damage response
por: Smith, Rebecca J., et al.
Publicado: (2016)

Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report
por: Ye, Fanghua, et al.
Publicado: (2018)

Ataxia-Telangiectasia Mutated (ATM) Protein Signaling Participates in Development of Pulmonary Arterial Hypertension in Rats
por: Hu, Fan, et al.
Publicado: (2017)

Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene)
por: Asadollahi, Reza, et al.
Publicado: (2020)

Effect of Reducing Ataxia-Telangiectasia Mutated (ATM) in Experimental Autosomal Dominant Polycystic Kidney Disease
por: Zhang, Jennifer Q. J., et al.
Publicado: (2021)

A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing
por: Alonazi, Noufa A., et al.
Publicado: (2018)

Thyroid and Breast Cancer in 2 Sisters With Monoallelic Mutations in the Ataxia Telangiectasia Mutated (ATM) Gene
por: Miasaki, Fabíola Y, et al.
Publicado: (2022)

Analysis of Clinical and Genetic Characterization of Three Ataxia–Telangiectasia Pedigrees With Novel ATM Gene Mutations
por: Huang, Peng, et al.
Publicado: (2022)

Ataxia-telangiectasia in China: a case report of a novel ATM variant and literature review
por: Shao, Li, et al.
Publicado: (2023)

Bone Marrow Transplantation as Therapy for Ataxia-Telangiectasia: A Systematic Review
por: Sabino Pinho de Oliveira, Bruna, et al.
Publicado: (2020)

Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis
por: Cavone, Federica, et al.
Publicado: (2023)

Ataxia-telangiectasia mutated (ATM) silencing promotes neuroblastoma progression through a MYCN independent mechanism
por: Mandriota, Stefano J., et al.
Publicado: (2015)

Identification of Two Novel Mutations in the ATM Gene from Patients with Ataxia-Telangiectasia by Whole Exome Sequencing
por: Heidari, Masoud, et al.
Publicado: (2019)

Ataxia-telangiectasia mutated (ATM) gene mutation in a patient with primary cutaneous marginal zone lymphoma
por: Sarver, Melissa M., et al.
Publicado: (2022)

Myoclonus in Ataxia–Telangiectasia
por: Termsarasab, Pichet, et al.
Publicado: (2015)

Growth in ataxia telangiectasia
por: Natale, Valerie A. I., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_4jmoedh8sqqaveb5ipq0mvu3bk