Functional and molecular defects of hiPSC-derived neurons from patients with ATM deficiency

ATM Deficiency Results in Accumulation of DNA-Topoisomerase I Covalent Intermediates in Neural Cells

(2014) Meryem Alagoz et al.   PLoS One

Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions

(2013) M. Ambrose et al.   BLOOD

Transcription Poisoning by Topoisomerase I Is Controlled by Gene Length, Splice Sites, and miR-142-3p

(2013) S. Solier et al.   CANCER RESEARCH

The appropriateness of the mouse model for ataxia-telangiectasia: Neurological defects but no neurodegeneration

(2013) Martin F. Lavin   DNA REPAIR

ATM-deficient human neural stem cells as an in vitro model system to study neurodegeneration

(2013) Luigi Carlessi et al.   DNA REPAIR

Brain and induced pluripotent stem cell-derived neural stem cells as an in vitro model of neurodegeneration in ataxia-telangiectasia

(2013) Luigi Carlessi et al.   EXPERIMENTAL BIOLOGY AND MEDICINE

A patient-derived olfactory stem cell disease model for ataxia-telangiectasia

(2013) Romal Stewart et al.   HUMAN MOLECULAR GENETICS

Synaptic activity bidirectionally regulates a novel sequence-specific S-Q phosphoproteome in neurons

(2013) Benjamin Siddoway et al.   JOURNAL OF NEUROCHEMISTRY

EZH2-mediated H3K27 trimethylation mediates neurodegeneration in ataxia-telangiectasia

(2013) Jiali Li et al.   NATURE NEUROSCIENCE

The ATM protein kinase: regulating the cellular response to genotoxic stress and more

(2013) Yosef Shiloh et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Modulation of DNA base excision repair during neuronal differentiation

(2013) Peter Sykora et al.   NEUROBIOLOGY OF AGING

A rapid and sensitive assay for DNA–protein covalent complexes in living cells

(2013) Kostantin Kiianitsa et al.   NUCLEIC ACIDS RESEARCH

Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects

(2013) S. Cestele et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular Mechanisms Controlling the Cell Cycle in Embryonic Stem Cells

(2013) Essam M. Abdelalim   Stem Cell Reviews and Reports

Comparative neuronal differentiation of self-renewing neural progenitor cell lines obtained from human induced pluripotent stem cells

(2013) Chiara Verpelli et al.   Frontiers in Cellular Neuroscience

Gene expression changes with age in skin, adipose tissue, blood and brain

(2013) Daniel Glass et al.   GENOME BIOLOGY

DNA damage response by single-strand breaks in terminally differentiated muscle cells and the control of muscle integrity

(2012) P Fortini et al.   CELL DEATH AND DIFFERENTIATION

Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia telangiectasia

(2012) Jiali Li et al.   NATURE MEDICINE

Synaptic genes are extensively downregulated across multiple brain regions in normal human aging and Alzheimer's disease

(2012) Nicole C. Berchtold et al.   NEUROBIOLOGY OF AGING

Induced Pluripotent Stem Cells from Ataxia-Telangiectasia Recapitulate the Cellular Phenotype

(2012) Sam Nayler et al.   Stem Cells Translational Medicine

The neuro-glial-vascular interrelations in genomic instability symptoms

(2011) Ari Barzilai   MECHANISMS OF AGEING AND DEVELOPMENT

Neuropathology in classical and variant ataxia-telangiectasia

(2011) Mijke M.M. Verhagen et al.   NEUROPATHOLOGY

Endogenously induced DNA double strand breaks arise in heterochromatic DNA regions and require ataxia telangiectasia mutated and Artemis for their repair

(2011) Lisa Woodbine et al.   NUCLEIC ACIDS RESEARCH

A protein phosphatase feedback mechanism regulates the basal phosphorylation of Chk2 kinase in the absence of DNA damage

(2010) Luigi Carlessi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Dynamic Dependence on ATR and ATM for Double-Strand Break Repair in Human Embryonic Stem Cells and Neural Descendants

(2010) Bret R. Adams et al.   PLoS One

DNA Damage Responses in Human Induced Pluripotent Stem Cells and Embryonic Stem Cells

(2010) Olga Momcilovic et al.   PLoS One

ATM Activation by Oxidative Stress

(2010) Z. Guo et al.   SCIENCE

Mouse Embryonic Stem Cells, but Not Somatic Cells, Predominantly Use Homologous Recombination to Repair Double-Strand DNA Breaks

(2010) Elisia D. Tichy et al.   STEM CELLS AND DEVELOPMENT

DNA-damage response, survival and differentiation in vitro of a human neural stem cell line in relation to ATM expression

(2009) L Carlessi et al.   CELL DEATH AND DIFFERENTIATION

Cytoplasmic ATM in Neurons Modulates Synaptic Function

(2009) Jiali Li et al.   CURRENT BIOLOGY

Phosphorylation of ATM by Cdk5 mediates DNA damage signalling and regulates neuronal death

(2009) Bo Tian et al.   NATURE CELL BIOLOGY

DNA repair deficiency and neurological disease

(2009) Peter J. McKinnon   NATURE REVIEWS NEUROSCIENCE

Ionizing Radiation Induces Ataxia Telangiectasia Mutated-Dependent Checkpoint Signaling and G2But Not G1Cell Cycle Arrest in Pluripotent Human Embryonic Stem Cells

(2009) Olga Momčilović et al.   STEM CELLS

Chk2-dependent phosphorylation of XRCC1 in the DNA damage response promotes base excision repair

(2008) Wen-Cheng Chou et al.   EMBO JOURNAL

Base excision repair, aging and health span

(2008) Guogang Xu et al.   MECHANISMS OF AGEING AND DEVELOPMENT