PIAS1 modulates striatal transcription, DNA damage repair, and SUMOylation with relevance to Huntington’s disease

Aberrant Development Corrected in Adult-Onset Huntington's Disease iPSC-Derived Neuronal Cultures via WNT Signaling Modulation

(2020) Charlene Smith-Geater et al.   Stem Cell Reports

Altered Synaptic Vesicle Release and Ca2+ Influx at Single Presynaptic Terminals of Cortical Neurons in a Knock-in Mouse Model of Huntington’s Disease

(2019) Sidong Chen et al.   Frontiers in Molecular Neuroscience

AAV5-miHTT gene therapy demonstrates sustained huntingtin lowering and functional improvement in Huntington disease mouse models

(2019) Elisabeth A. Spronck et al.   Molecular Therapy-Methods & Clinical Development

Mutant huntingtin impairs PNKP and ATXN3, disrupting DNA repair and transcription

(2019) Rui Gao et al.   eLife

Allele-selective transcriptional repression of mutant HTT for the treatment of Huntington’s disease

(2019) Bryan Zeitler et al.   NATURE MEDICINE

DNA Damage Repair in Huntington’s Disease and Other Neurodegenerative Diseases

(2019) T. Maiuri et al.   Neurotherapeutics

SUMOylation in Neurodegenerative Diseases

(2019) Andrea Princz et al.   GERONTOLOGY

Treatment with JQ1, a BET bromodomain inhibitor, is selectively detrimental to R6/2 Huntington’s disease mice

(2019) Amanda J Kedaigle et al.   HUMAN MOLECULAR GENETICS

On the Formation and Morphology of Lipid Nanoparticles Containing Ionizable Cationic Lipids and siRNA

(2018) Jayesh A. Kulkarni et al.   ACS Nano

Global Identification of Small Ubiquitin-related Modifier (SUMO) Substrates Reveals Crosstalk between SUMOylation and Phosphorylation Promotes Cell Migration

(2018) Ijeoma Uzoma et al.   MOLECULAR & CELLULAR PROTEOMICS

SUMOylation, aging and autophagy in neurodegeneration

(2018) Shamini Vijayakumaran et al.   NEUROTOXICOLOGY

FAN1 modifies Huntington’s disease progression by stabilising the expanded HTT CAG repeat

(2018) Robert Goold et al.   HUMAN MOLECULAR GENETICS

Genome integrity and disease prevention in the nervous system

(2017) Peter J. McKinnon   GENES & DEVELOPMENT

A modifier of Huntington's disease onset at the MLH1 locus

(2017) Jong-Min Lee et al.   HUMAN MOLECULAR GENETICS

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

(2017) Davina J Hensman Moss et al.   LANCET NEUROLOGY

Developmental alterations in Huntington's disease neural cells and pharmacological rescue in cells and mice

(2017) Ryan G Lim et al.   NATURE NEUROSCIENCE

Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation

(2017) Ivo A Hendriks et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery

(2017) Ramesh Kumar et al.   Nature Communications

Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation

(2017) Ivo A Hendriks et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Ubiquitin-dependent and independent roles of SUMO in proteostasis

(2016) Frauke Liebelt et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

(2016) Conceição Bettencourt et al.   ANNALS OF NEUROLOGY

Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex

(2016) Tamara Maiuri et al.   HUMAN MOLECULAR GENETICS

An enhanced Q175 knock-in mouse model of Huntington disease with higher mutant huntingtin levels and accelerated disease phenotypes

(2016) Amber L. Southwell et al.   HUMAN MOLECULAR GENETICS

Integrated genomics and proteomics define huntingtin CAG length–dependent networks in mice

(2016) Peter Langfelder et al.   NATURE NEUROSCIENCE

PIAS1 Regulates Mutant Huntingtin Accumulation and Huntington’s Disease-Associated Phenotypes In Vivo

(2016) Joseph Ochaba et al.   NEURON

MeCP2 SUMOylation rescues Mecp2-mutant-induced behavioural deficits in a mouse model of Rett syndrome

(2016) Derek J. C. Tai et al.   Nature Communications

Classical non-homologous end-joining pathway utilizes nascent RNA for error-free double-strand break repair of transcribed genes

(2016) Anirban Chakraborty et al.   Nature Communications

The language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiers

(2016) Sara B. Estruch et al.   Scientific Reports

Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease

(2015) Jong-Min Lee et al.   CELL

Polynucleotide kinase-phosphatase enables neurogenesis via multiple DNA repair pathways to maintain genome stability

(2015) M. Shimada et al.   EMBO JOURNAL

Neil2-null Mice Accumulate Oxidized DNA Bases in the Transcriptionally Active Sequences of the Genome and Are Susceptible to Innate Inflammation

(2015) Anirban Chakraborty et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ubiquitin-SUMO Circuitry Controls Activated Fanconi Anemia ID Complex Dosage in Response to DNA Damage

(2015) Ian Gibbs-Seymour et al.   MOLECULAR CELL

Genomic integrity and the ageing brain

(2015) Hei-man Chow et al.   NATURE REVIEWS NEUROSCIENCE

SUMO-2 and PIAS1 Modulate Insoluble Mutant Huntingtin Protein Accumulation

(2013) Jacqueline Gire O’Rourke et al.   Cell Reports

RNF4, a SUMO-targeted ubiquitin E3 ligase, promotes DNA double-strand break repair

(2012) Y. Galanty et al.   GENES & DEVELOPMENT

Neil1 is a genetic modifier of somatic and germline CAG trinucleotide repeat instability in R6/1 mice

(2012) L. Mollersen et al.   HUMAN MOLECULAR GENETICS

Dysregulation of synaptic proteins, dendritic spine abnormalities and pathological plasticity of synapses as experience-dependent mediators of cognitive and psychiatric symptoms in Huntington’s disease

(2012) J. Nithianantharajah et al.   NEUROSCIENCE

siSPOTR: a tool for designing highly specific and potent siRNAs for human and mouse

(2012) Ryan L. Boudreau et al.   NUCLEIC ACIDS RESEARCH

Phosphorylation of PNKP by ATM prevents its proteasomal degradation and enhances resistance to oxidative stress

(2012) Jason L. Parsons et al.   NUCLEIC ACIDS RESEARCH

Comprehensive Behavioral and Molecular Characterization of a New Knock-In Mouse Model of Huntington’s Disease: zQ175

(2012) Liliana B. Menalled et al.   PLoS One

Characterization of Neurophysiological and Behavioral Changes, MRI Brain Volumetry and 1H MRS in zQ175 Knock-In Mouse Model of Huntington's Disease

(2012) Taneli Heikkinen et al.   PLoS One

ATM-mediated phosphorylation of polynucleotide kinase/phosphatase is required for effective DNA double-strand break repair

(2011) Hava Segal-Raz et al.   EMBO REPORTS

Rational Design of Therapeutic siRNAs: Minimizing Off-targeting Potential to Improve the Safety of RNAi Therapy for Huntington's Disease

(2011) Ryan L Boudreau et al.   MOLECULAR THERAPY

Role of polynucleotide kinase/phosphatase in mitochondrial DNA repair

(2011) Nasser Tahbaz et al.   NUCLEIC ACIDS RESEARCH

Quantification of Age-Dependent Somatic CAG Repeat Instability in Hdh CAG Knock-In Mice Reveals Different Expansion Dynamics in Striatum and Liver

(2011) Jong-Min Lee et al.   PLoS One

A Genetic Screen Identifies FAN1, a Fanconi Anemia-Associated Nuclease Necessary for DNA Interstrand Crosslink Repair

(2010) Agata Smogorzewska et al.   MOLECULAR CELL

GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists

(2009) Eran Eden et al.   BMC BIOINFORMATICS

Mammalian SUMO E3-ligases PIAS1 and PIAS4 promote responses to DNA double-strand breaks

(2009) Yaron Galanty et al.   NATURE

RNF4 is a poly-SUMO-specific E3 ubiquitin ligase required for arsenic-induced PML degradation

(2008) Michael H. Tatham et al.   NATURE CELL BIOLOGY

Targeting the PIAS1 SUMO ligase pathway to control inflammation

(2008) Bin Liu et al.   TRENDS IN PHARMACOLOGICAL SCIENCES