Poly-ADP-ribosylation drives loss of protein homeostasis in ATM and Mre11 deficiency

Receptors for pro‐resolving mediators are increased in Alzheimer's disease brain

(2020) Ceren Emre et al.   BRAIN PATHOLOGY

Poly(ADP-ribose): A Dynamic Trigger for Biomolecular Condensate Formation

(2020) Anthony K.L. Leung   TRENDS IN CELL BIOLOGY

Protein Quality Control Pathways at the Crossroad of Synucleinopathies

(2020) Eduardo P. De Mattos et al.   Journal of Parkinsons Disease

Proteome-wide identification of HSP70/HSC70 chaperone clients in human cells

(2020) Seung W. Ryu et al.   PLOS BIOLOGY

Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias

(2019) Ronald A.M. Buijsen et al.   Neurotherapeutics

R-Loops as Cellular Regulators and Genomic Threats

(2019) Madzia P. Crossley et al.   MOLECULAR CELL

PARylation regulates stress granule dynamics, phase separation, and neurotoxicity of disease-related RNA-binding proteins

(2019) Yongjia Duan et al.   CELL RESEARCH

Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect

(2019) Alice Fiévet et al.   HUMAN MUTATION

PARP-1 Activation Directs FUS to DNA Damage Sites to Form PARG-Reversible Compartments Enriched in Damaged DNA

(2019) Anastasia S. Singatulina et al.   Cell Reports

Spinocerebellar ataxia

(2019) Thomas Klockgether et al.   Nature Reviews Disease Primers

The Importance of Poly(ADP-Ribose) Polymerase as a Sensor of Unligated Okazaki Fragments during DNA Replication

(2018) Hana Hanzlikova et al.   MOLECULAR CELL

PARP-1–dependent recruitment of cold-inducible RNA-binding protein promotes double-strand break repair and genome stability

(2018) Jung-Kuei Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ATM directs DNA damage responses and proteostasis via genetically separable pathways

(2018) Ji-Hoon Lee et al.   Science Signaling

PARP1 and PARP2 stabilise replication forks at base excision repair intermediates through Fbh1-dependent Rad51 regulation

(2018) George E. Ronson et al.   Nature Communications

Coupling bimolecular PARylation biosensors with genetic screens to identify PARylation targets

(2018) Dragomir B. Krastev et al.   Nature Communications

ATM directs DNA damage responses and proteostasis via genetically separable pathways

(2018) Ji-Hoon Lee et al.   Science Signaling

The brain-penetrant clinical ATM inhibitor AZD1390 radiosensitizes and improves survival of preclinical brain tumor models

(2018) Stephen T. Durant et al.   Science Advances

Protein misfolding, aggregation, and conformational strains in neurodegenerative diseases

(2018) Claudio Soto et al.   NATURE NEUROSCIENCE

Aberrant IP3 receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29

(2018) Hideaki Ando et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Poly(ADP-ribose) drives pathologic α-synuclein neurodegeneration in Parkinson’s disease

(2018) Tae-In Kam et al.   SCIENCE

ROS-induced R loops trigger a transcription-coupled but BRCA1/2-independent homologous recombination pathway through CSB

(2018) Yaqun Teng et al.   Nature Communications

Sae2/CtIP prevents R-loop accumulation in eukaryotic cells

(2018) Nodar Makharashvili et al.   eLife

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers

(2017) Joakim Klar et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Intraneuronal protein aggregation as a trigger for inflammation and neurodegeneration in the aging brain

(2017) Antonio Currais et al.   FASEB JOURNAL

PARPs and ADP-ribosylation: recent advances linking molecular functions to biological outcomes

(2017) Rebecca Gupte et al.   GENES & DEVELOPMENT

DNA–RNA hybrids: the risks of DNA breakage during transcription

(2017) Andrés Aguilera et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Modulation of proteostasis counteracts oxidative stress and affects DNA base excision repair capacity in ATM-deficient cells

(2017) Mattia Poletto et al.   NUCLEIC ACIDS RESEARCH

Protein aggregation and neurodegeneration in prototypical neurodegenerative diseases: Examples of amyloidopathies, tauopathies and synucleinopathies

(2017) Mathieu Bourdenx et al.   PROGRESS IN NEUROBIOLOGY

DNA–RNA hybrids: the risks of DNA breakage during transcription

(2017) Andrés Aguilera et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Age-Dependent Protein Aggregation Initiates Amyloid-β Aggregation

(2017) Nicole Groh et al.   Frontiers in Aging Neuroscience

An In Vitro Model for Neuroscience: Differentiation of SH-SY5Y Cells into Cells with Morphological and Biochemical Characteristics of Mature Neurons

(2017) Lotta Agholme et al.   JOURNAL OF ALZHEIMERS DISEASE

NAD + Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair

(2016) Evandro Fei Fang et al.   Cell Metabolism

Roles of RNA-Binding Proteins in DNA Damage Response

(2016) Mihoko Kai   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Mre11 Is Essential for the Removal of Lethal Topoisomerase 2 Covalent Cleavage Complexes

(2016) Nguyen Ngoc Hoa et al.   MOLECULAR CELL

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

(2016) Nicolas C. Hoch et al.   NATURE

Ataxia telangiectasia: a review

(2016) Cynthia Rothblum-Oviatt et al.   Orphanet Journal of Rare Diseases

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors

(2016) Kenta Yamamoto et al.   eLife

Mechanisms of ATM Activation

(2015) Tanya T. Paull   Annual Review of Biochemistry

Emerging role of RNA•DNA hybrids inC9orf72-linked neurodegeneration

(2015) Jiou Wang et al.   CELL CYCLE

BRCA1 Recruitment to Transcriptional Pause Sites Is Required for R-Loop-Driven DNA Damage Repair

(2015) Elodie Hatchi et al.   MOLECULAR CELL

The core spliceosome as target and effector of non-canonical ATM signalling

(2015) Maria Tresini et al.   NATURE

R loops: new modulators of genome dynamics and function

(2015) José M. Santos-Pereira et al.   NATURE REVIEWS GENETICS

Deletion of Inpp5a causes ataxia and cerebellar degeneration in mice

(2015) Andy W. Yang et al.   NEUROGENETICS

ATM prevents DSB formation by coordinating SSB repair and cell cycle progression

(2015) Svetlana V. Khoronenkova et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Liquid demixing of intrinsically disordered proteins is seeded by poly(ADP-ribose)

(2015) Matthias Altmeyer et al.   Nature Communications

DNA Damage, DNA Repair, Aging, and Neurodegeneration

(2015) Scott Maynard et al.   Cold Spring Harbor Perspectives in Medicine

Tyrosyl-DNA-phosphodiesterases (TDP1 and TDP2)

(2014) Yves Pommier et al.   DNA REPAIR

BRCA2 prevents R-loop accumulation and associates with TREX-2 mRNA export factor PCID2

(2014) Vaibhav Bhatia et al.   NATURE

Improved vectors and genome-wide libraries for CRISPR screening

(2014) Neville E Sanjana et al.   NATURE METHODS

Aberrant topoisomerase-1 DNA lesions are pathogenic in neurodegenerative genome instability syndromes

(2014) Sachin Katyal et al.   NATURE NEUROSCIENCE

DNA Damage and Its Links to Neurodegeneration

(2014) Ram Madabhushi et al.   NEURON

DNA damage triggers SAF-A and RNA biogenesis factors exclusion from chromatin coupled to R-loops removal

(2014) Sébastien Britton et al.   NUCLEIC ACIDS RESEARCH

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

(2014) Meryem Alagoz et al.   PLoS One

R-Loops in Proliferating Cells but Not in the Brain: Implications for AOA2 and Other Autosomal Recessive Ataxias

(2014) Abrey J. Yeo et al.   PLoS One

Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms

(2013) Joshua A. Regal et al.   HUMAN MOLECULAR GENETICS

The RNA-binding Protein Fused in Sarcoma (FUS) Functions Downstream of Poly(ADP-ribose) Polymerase (PARP) in Response to DNA Damage

(2013) Adam S. Mastrocola et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

PARP-1 dependent recruitment of the amyotrophic lateral sclerosis-associated protein FUS/TLS to sites of oxidative DNA damage

(2013) Stuart L. Rulten et al.   NUCLEIC ACIDS RESEARCH

ATM signalling and cancer

(2013) C A Cremona et al.   ONCOGENE

The Role of hnRPUL1 Involved in DNA Damage Response Is Related to PARP1

(2013) Zehui Hong et al.   PLoS One

Brain pathology of spinocerebellar ataxias

(2012) Kay Seidel et al.   ACTA NEUROPATHOLOGICA

Loss of ATM kinase activity leads to embryonic lethality in mice

(2012) Jeremy A. Daniel et al.   JOURNAL OF CELL BIOLOGY

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

(2012) Lijia Huang et al.   Orphanet Journal of Rare Diseases

The MRE11 complex: starting from the ends

(2011) Travis H. Stracker et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Spinocerebellar ataxia type 10 – A review

(2011) Hélio A.G. Teive et al.   PARKINSONISM & RELATED DISORDERS

The ATM protein kinase and cellular redox signaling: beyond the DNA damage response

(2011) Scott Ditch et al.   TRENDS IN BIOCHEMICAL SCIENCES

Deranged Calcium Signaling in Purkinje Cells and Pathogenesis in Spinocerebellar Ataxia 2 (SCA2) and Other Ataxias

(2010) Adebimpe Kasumu et al.   CEREBELLUM

Transcription-dependent Activation of Ataxia Telangiectasia Mutated Prevents DNA-dependent Protein Kinase-mediated Cell Death in Response to Topoisomerase I Poison

(2010) Ryo Sakasai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ATM Activation by Oxidative Stress

(2010) Z. Guo et al.   SCIENCE

Ataxia telangiectasia mutated activation by transcription- and topoisomerase I-induced DNA double-strand breaks

(2009) Olivier Sordet et al.   EMBO REPORTS

Identification and characterization of FUS/TLS as a new target of ATM

(2008) Mary Gardiner et al.   BIOCHEMICAL JOURNAL