Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

(2011) Romain Micol et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

mTORC1 Signaling under Hypoxic Conditions Is Controlled by ATM-Dependent Phosphorylation of HIF-1α

(2010) Hakan Cam et al.   MOLECULAR CELL

ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS

(2010) A. Alexander et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ATM Activation by Oxidative Stress

(2010) Z. Guo et al.   SCIENCE

Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer

(2009) Sean V. Tavtigian et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cytoplasmic ATM in Neurons Modulates Synaptic Function

(2009) Jiali Li et al.   CURRENT BIOLOGY

Modeling ATM mutant proteins from missense changes confirms retained kinase activity

(2009) Giancarlo Barone et al.   HUMAN MUTATION

Clinical spectrum of ataxia-telangiectasia in adulthood

(2009) M.M.M. Verhagen et al.   NEUROLOGY

A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia

(2008) Paola Porcedda et al.   CYTOMETRY PART A

Evaluation of in silico splice tools for decision-making in molecular diagnosis

(2008) Claude Houdayer et al.   HUMAN MUTATION

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk

(2008) M. Mitui et al.   HUMAN MUTATION

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer

(2008) Martin F. Lavin   NATURE REVIEWS MOLECULAR CELL BIOLOGY