Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity

Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism

(2020) Mathilde Chivet et al.   Cells

Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach

(2020) Achilleas Laskaratos et al.   JOURNAL OF MEDICAL GENETICS

Tyrosine kinase c-Abl couples RNA polymerase II transcription to DNA double-strand breaks

(2019) Kaspar Burger et al.   NUCLEIC ACIDS RESEARCH

Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease–Associated Alleles Among Large Population-Based Cohorts

(2019) Sarah L. Gardiner et al.   JAMA Neurology

Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype

(2019) Daehwan Kim et al.   NATURE BIOTECHNOLOGY

Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease

(2018) Raquel Manzano et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

From gene to therapy in spinal and bulbar muscular atrophy: Are we there yet?

(2018) Maria Pennuto et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Hydrophobicity of Lipid-Conjugated siRNAs Predicts Productive Loading to Small Extracellular Vesicles

(2018) Annabelle Biscans et al.   MOLECULAR THERAPY

Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy

(2018) Nisha M Badders et al.   NATURE MEDICINE

Improving siRNA Delivery In Vivo Through Lipid Conjugation

(2018) Maire F. Osborn et al.   Nucleic Acid Therapeutics

Androgen receptor polyglutamine expansion drives age-dependent quality control defects and muscle dysfunction

(2018) Samir R. Nath et al.   JOURNAL OF CLINICAL INVESTIGATION

ggsashimi: Sashimi plot revised for browser- and annotation-independent splicing visualization

(2018) Diego Garrido-Martín et al.   PLoS Computational Biology

AAV Gene Transfer with Tandem Promoter Design Prevents Anti-transgene Immunity and Provides Persistent Efficacy in Neonate Pompe Mice

(2018) Pasqualina Colella et al.   Molecular Therapy-Methods & Clinical Development

Salmon provides fast and bias-aware quantification of transcript expression

(2017) Rob Patro et al.   NATURE METHODS

5΄-Vinylphosphonate improves tissue accumulation and efficacy of conjugated siRNAs in vivo

(2017) Reka A. Haraszti et al.   NUCLEIC ACIDS RESEARCH

Androgen Receptor Deregulation Drives Bromodomain-Mediated Chromatin Alterations in Prostate Cancer

(2017) Alfonso Urbanucci et al.   Cell Reports

Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet

(2016) Anna Rocchi et al.   ACTA NEUROPATHOLOGICA

MultiQC: summarize analysis results for multiple tools and samples in a single report

(2016) Philip Ewels et al.   BIOINFORMATICS

Emerging data on androgen receptor splice variants in prostate cancer

(2016) Subing Cao et al.   ENDOCRINE-RELATED CANCER

A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy

(2016) Laura C. Bott et al.   HUMAN MOLECULAR GENETICS

Cooperative Dynamics of AR and ER Activity in Breast Cancer

(2016) N. C. D'Amato et al.   MOLECULAR CANCER RESEARCH

MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy

(2016) Naemeh Pourshafie et al.   MOLECULAR THERAPY

Rescue of Metabolic Alterations in AR113Q Skeletal Muscle by Peripheral Androgen Receptor Gene Silencing

(2016) Elisa Giorgetti et al.   Cell Reports

Androgen receptor-related diseases: what do we know?

(2016) G. C. Shukla et al.   Andrology

Disrupting SUMOylation enhances transcriptional function and ameliorates polyglutamine androgen receptor–mediated disease

(2015) Jason P. Chua et al.   JOURNAL OF CLINICAL INVESTIGATION

NF- B2/p52:c-Myc:hnRNPA1 Pathway Regulates Expression of Androgen Receptor Splice Variants and Enzalutamide Sensitivity in Prostate Cancer

(2015) N. Nadiminty et al.   MOLECULAR CANCER THERAPEUTICS

Genotype-Phenotype Correlation in Chinese Patients with Spinal and Bulbar Muscular Atrophy

(2015) Wang Ni et al.   PLoS One

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

The Mechanisms behind the Therapeutic Activity of BET Bromodomain Inhibition

(2014) Junwei Shi et al.   MOLECULAR CELL

Therapeutic targeting of BET bromodomain proteins in castration-resistant prostate cancer

(2014) Irfan A. Asangani et al.   NATURE

Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients

(2014) Christopher Grunseich et al.   NEUROBIOLOGY OF DISEASE

Muscle Expression of Mutant Androgen Receptor Accounts for Systemic and Motor Neuron Disease Phenotypes in Spinal and Bulbar Muscular Atrophy

(2014) Constanza J. Cortes et al.   NEURON

Muscle Matters in Kennedy’s Disease

(2014) Carlo Rinaldi et al.   NEURON

Peripheral Androgen Receptor Gene Suppression Rescues Disease in Mouse Models of Spinal and Bulbar Muscular Atrophy

(2014) Andrew P. Lieberman et al.   Cell Reports

Feasibility and Safety of Systemic rAAV9-hNAGLU Delivery for Treating Mucopolysaccharidosis IIIB: Toxicology, Biodistribution, and Immunological Assessments in Primates

(2014) Darren A. Murrey et al.   Human Gene Therapy Clinical Development

Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy

(2013) Adriana Malena et al.   ACTA NEUROPATHOLOGICA

Unknown

(2013) Carlo Rinaldi et al.   MOLECULAR MEDICINE

Spinal and bulbar muscular atrophy: pathogenesis and clinical management

(2013) C Grunseich et al.   ORAL DISEASES

Interplay Between Genomic Alterations and Androgen Receptor Signaling During Prostate Cancer Development and Progression

(2013) Michael D. Nyquist et al.   Hormones & Cancer

Histone Recognition and Large-Scale Structural Analysis of the Human Bromodomain Family

(2012) Panagis Filippakopoulos et al.   CELL

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

FIMO: scanning for occurrences of a given motif

(2011) Charles E. Grant et al.   BIOINFORMATICS

Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial

(2011) Lindsay E Fernández-Rhodes et al.   LANCET NEUROLOGY

Cell-autonomous and non-cell-autonomous toxicity in polyglutamine diseases

(2011) Fabio Sambataro et al.   PROGRESS IN NEUROBIOLOGY

Castration resistance in human prostate cancer is conferred by a frequently occurring androgen receptor splice variant

(2010) Shihua Sun et al.   JOURNAL OF CLINICAL INVESTIGATION

Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial

(2010) Masahisa Katsuno et al.   LANCET NEUROLOGY

Native Functions of the Androgen Receptor Are Essential to Pathogenesis in a Drosophila Model of Spinobulbar Muscular Atrophy

(2010) Natalia B. Nedelsky et al.   NEURON

Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy

(2009) Haruhiko Banno et al.   ANNALS OF NEUROLOGY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Monocyte/macrophage androgen receptor suppresses cutaneous wound healing in mice by enhancing local TNF-α expression

(2009) Jiann-Jyh Lai et al.   JOURNAL OF CLINICAL INVESTIGATION

ChIP-seq: Using high-throughput sequencing to discover protein–DNA interactions

(2009) Dominic Schmidt et al.   METHODS

Serum creatine kinase levels in spinobulbar muscular atrophy and amyotrophic lateral sclerosis

(2009) Nizar Chahin et al.   MUSCLE & NERVE

Cooperative binding of two acetylation marks on a histone tail by a single bromodomain

(2009) Jeanne Morinière et al.   NATURE

Overexpression of IGF-1 in Muscle Attenuates Disease in a Mouse Model of Spinal and Bulbar Muscular Atrophy

(2009) Isabella Palazzolo et al.   NEURON

Splicing of a Novel Androgen Receptor Exon Generates a Constitutively Active Androgen Receptor that Mediates Prostate Cancer Therapy Resistance

(2008) S. M. Dehm et al.   CANCER RESEARCH

Ligand-Independent Androgen Receptor Variants Derived from Splicing of Cryptic Exons Signify Hormone-Refractory Prostate Cancer

(2008) R. Hu et al.   CANCER RESEARCH

Mitochondrial abnormalities in spinal and bulbar muscular atrophy

(2008) Srikanth Ranganathan et al.   HUMAN MOLECULAR GENETICS

Minireview: The Contribution of Different Androgen Receptor Domains to Receptor Dimerization and Signaling

(2008) Margaret M. Centenera et al.   MOLECULAR ENDOCRINOLOGY

Natural history of spinal-bulbar muscular atrophy

(2008) N. Chahin et al.   NEUROLOGY

Spinal and bulbar muscular atrophy: Skeletal muscle pathology in male patients and heterozygous females

(2007) Gianni Sorarù et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES