Inactivation of PNKP by Mutant ATXN3 Triggers Apoptosis by Activating the DNA Damage-Response Pathway in SCA3

A Chromatin-Dependent Role of the Fragile X Mental Retardation Protein FMRP in the DNA Damage Response

(2014) Roman Alpatov et al.   CELL

A feed-forward mechanism involving Drosophila fragile X mental retardation protein triggers a replication stress-induced DNA damage response

(2014) W. Zhang et al.   HUMAN MOLECULAR GENETICS

Chronic Treatment with 17-DMAG Improves Balance and Coordination in A New Mouse Model of Machado-Joseph Disease

(2014) Anabela Silva-Fernandes et al.   Neurotherapeutics

Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age

(2013) Amanda G. Mason et al.   HUMAN MOLECULAR GENETICS

Silencing Mutant ATXN3 Expression Resolves Molecular Phenotypes in SCA3 Transgenic Mice

(2013) Edgardo Rodríguez-Lebrón et al.   MOLECULAR THERAPY

Association between Machado–Joseph disease and oxidative stress biomarkers

(2013) Laura Segabinazzi Pacheco et al.   MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS

Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons

(2013) Wen-Yuan Wang et al.   NATURE NEUROSCIENCE

Lewy body pathology is associated with mitochondrial DNA damage in Parkinson's disease

(2013) Sarina K. Müller et al.   NEUROBIOLOGY OF AGING

Drosophila FMRP participates in the DNA damage response by regulating G2/M cell cycle checkpoint and apoptosis

(2012) Wei Liu et al.   HUMAN MOLECULAR GENETICS

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations

(2012) Cathryn Poulton et al.   NEUROGENETICS

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair

(2012) John J. Reynolds et al.   NUCLEIC ACIDS RESEARCH

Regulated Binding of Importin-α to Protein Kinase Cδ in Response to Apoptotic Signals Facilitates Nuclear Import

(2011) Tariq S. Adwan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Role of Human DNA Glycosylase Nei-like 2 (NEIL2) and Single Strand Break Repair Protein Polynucleotide Kinase 3′-Phosphatase in Maintenance of Mitochondrial Genome

(2011) Santi M. Mandal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Role of p53 in Neurodegenerative Diseases

(2011) J. Robert Chang et al.   Neurodegenerative Diseases

Polyglutamine diseases: The special case of ataxin-3 and Machado–Joseph disease

(2011) Carlos A. Matos et al.   PROGRESS IN NEUROBIOLOGY

Toward understanding Machado–Joseph disease

(2011) Maria do Carmo Costa et al.   PROGRESS IN NEUROBIOLOGY

Tidying up loose ends: the role of polynucleotide kinase/phosphatase in DNA strand break repair

(2011) Michael Weinfeld et al.   TRENDS IN BIOCHEMICAL SCIENCES

Polyglutamine-expanded ataxin-7 upregulates Bax expression by activating p53 in cerebellar and inferior olivary neurons

(2010) Hung-Li Wang et al.   EXPERIMENTAL NEUROLOGY

Proximity ligation assays: a recent addition to the proteomics toolbox

(2010) Irene Weibrecht et al.   Expert Review of Proteomics

Activity and Cellular Functions of the Deubiquitinating Enzyme and Polyglutamine Disease Protein Ataxin-3 Are Regulated by Ubiquitination at Lysine 117

(2010) Sokol V. Todi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

(2010) Jun Shen et al.   NATURE GENETICS

Repeat instability as the basis for human diseases and as a potential target for therapy

(2010) Arturo López Castel et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

p53 activation mediates polyglutamine-expanded ataxin-3 upregulation of Bax expression in cerebellar and pontine nuclei neurons

(2010) An-Hsun Chou et al.   NEUROCHEMISTRY INTERNATIONAL

ATM Activation by Oxidative Stress

(2010) Z. Guo et al.   SCIENCE

The cell death machinery governed by the p53 tumor suppressor in response to DNA damage

(2009) Kiyotsugu Yoshida et al.   CANCER SCIENCE

DNA Damage and Repair in Alzheimers Disease

(2009) Fabio Coppede et al.   Current Alzheimer Research

The Deubiquitinating Enzyme Ataxin-3, a Polyglutamine Disease Protein, Edits Lys63Linkages in Mixed Linkage Ubiquitin Chains

(2008) Brett J. Winborn et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

DNA Damage and Repair

(2008) Lee J. Martin   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Nuclear trafficking of pro-apoptotic kinases in response to DNA damage

(2008) Kiyotsugu Yoshida   TRENDS IN MOLECULAR MEDICINE