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

Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy

(2019) Frederick J. Arnold et al.   Scientific Reports

Stress Granule Assembly Disrupts Nucleocytoplasmic Transport

(2018) Ke Zhang et al.   CELL

Nuclear-Import Receptors Reverse Aberrant Phase Transitions of RNA-Binding Proteins with Prion-like Domains

(2018) Lin Guo et al.   CELL

The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy

(2018) Angela Rosenbohm et al.   JOURNAL OF NEUROLOGY

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

Polyglutamine Repeats in Neurodegenerative Diseases

(2018) Andrew P. Lieberman et al.   Annual Review of Pathology-Mechanisms of Disease

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients

(2017) Doriana Borgia et al.   HUMAN MOLECULAR GENETICS

Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy

(2017) Robert D. Guber et al.   NEUROLOGY

Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes

(2017) Carmelo Milioto et al.   Scientific 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

Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy

(2016) M. J. Polanco et al.   Science Translational Medicine

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

(2016) Elisa Giorgetti et al.   Cell Reports

Proteostasis and Diseases of the Motor Unit

(2016) Carlo Rinaldi et al.   Frontiers in Molecular Neuroscience

Identification of novel polyglutamine-expanded aggregation species in spinal and bulbar muscular atrophy

(2015) Tamar R. Berger et al.   BRAIN RESEARCH

In Vitro and In Vivo Modeling of Spinal and Bulbar Muscular Atrophy

(2015) Maria Pennuto et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients

(2015) Giorgia Querin et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Innervation and neuromuscular control in ageing skeletal muscle

(2015) Russell T. Hepple et al.   JOURNAL OF PHYSIOLOGY-LONDON

Androgens affect muscle, motor neuron, and survival in a mouse model of SOD1-related amyotrophic lateral sclerosis

(2014) Tanya Aggarwal et al.   NEUROBIOLOGY OF AGING

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

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

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

Regulation of Organismal Proteostasis by Transcellular Chaperone Signaling

(2013) Patricija van Oosten-Hawle et al.   CELL

Mechanisms regulating skeletal muscle growth and atrophy

(2013) Stefano Schiaffino et al.   FEBS Journal

Transcriptional activation of TFEB/ZKSCAN3 target genes underlies enhanced autophagy in spinobulbar muscular atrophy

(2013) J. P. Chua et al.   HUMAN MOLECULAR GENETICS

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(2013) Carlo Rinaldi et al.   MOLECULAR MEDICINE

Toxic and non-toxic aggregates from the SBMA and normal forms of androgen receptor have distinct oligomeric structures

(2012) Tobias Jochum et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

An open trial of long-term testosterone suppression in spinal and bulbar muscular atrophy

(2012) Tomotaka Yamamoto et al.   MUSCLE & NERVE

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

Fiber Types in Mammalian Skeletal Muscles

(2011) Stefano Schiaffino et al.   PHYSIOLOGICAL REVIEWS

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

(2011) Fabio Sambataro et al.   PROGRESS IN NEUROBIOLOGY

Macroautophagy Is Regulated by the UPR–Mediator CHOP and Accentuates the Phenotype of SBMA Mice

(2011) Zhigang Yu et al.   PLoS Genetics

B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy

(2010) Isabella Palazzolo et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Accurate and objective copy number profiling using real-time quantitative PCR

(2010) Barbara D’haene et al.   METHODS

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

Phosphorylation of ULK1 (hATG1) by AMP-Activated Protein Kinase Connects Energy Sensing to Mitophagy

(2010) D. F. Egan et al.   SCIENCE

Cytoplasmic retention of polyglutamine-expanded androgen receptor ameliorates disease via autophagy in a mouse model of spinal and bulbar muscular atrophy

(2009) Heather L. Montie et al.   HUMAN MOLECULAR GENETICS

Cross-Seeding Fibrillation of Q/N-Rich Proteins Offers New Pathomechanism of Polyglutamine Diseases

(2009) Y. Furukawa et al.   JOURNAL OF NEUROSCIENCE

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

(2009) Isabella Palazzolo et al.   NEURON

Mitochondrial abnormalities in spinal and bulbar muscular atrophy

(2008) Srikanth Ranganathan et al.   HUMAN MOLECULAR GENETICS

Structural basis for the nuclear import of the human androgen receptor

(2008) M. L. Cutress et al.   JOURNAL OF CELL SCIENCE

In vivo suppression of polyglutamine neurotoxicity by C-terminus of Hsp70-interacting protein (CHIP) supports an aggregation model of pathogenesis

(2008) Aislinn J. Williams et al.   NEUROBIOLOGY OF DISEASE

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

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