Spinal and bulbar muscular atrophy: From molecular pathogenesis to pharmacological intervention targeting skeletal muscle

Two Elderly Men with Myasthenia Gravis during Androgen Deprivation Therapy for Prostate Cancer

(2023) Kazo Kanazawa et al.   INTERNAL MEDICINE

Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle

(2023) Caterina Marchioretti et al.   Nature Communications

LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice

(2023) Ramachandran Prakasam et al.   Nature Communications

Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function

(2023) Diana Piol et al.   Science Advances

Nucleic Acid-Based Therapeutic Approach for Spinal and Bulbar Muscular Atrophy and Related Neurological Disorders

(2022) Tomoki Hirunagi et al.   Genes

AR cooperates with SMAD4 to maintain skeletal muscle homeostasis

(2022) Mitra Forouhan et al.   ACTA NEUROPATHOLOGICA

Prostate cancer

(2021) Richard J. Rebello et al.   Nature Reviews Disease Primers

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

(2021) Wooi F. Lim et al.   Science Advances

Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene

(2021) Kai Ivar Müller et al.   NEUROMUSCULAR DISORDERS

MEF2 impairment underlies skeletal muscle atrophy in polyglutamine disease

(2020) Samir R. Nath et al.   ACTA NEUROPATHOLOGICA

Muscle BDNF improves synaptic and contractile muscle strength in Kennedy's disease mice in a muscle‐type specific manner

(2020) Katherine Halievski et al.   JOURNAL OF PHYSIOLOGY-LONDON

Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA)

(2020) Atsushi Hashizume et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Deubiquitinase USP7 contributes to the pathogenicity of spinal and bulbar muscular atrophy

(2020) Anna Pluciennik et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

(2018) Nisha M Badders et al.   NATURE MEDICINE

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

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

Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial

(2018) Christopher Grunseich et al.   LANCET NEUROLOGY

Correlation between the CAG repeat size and electrophysiological findings in patients with spinal and bulbar muscular atrophy

(2017) Hyunjin Kim et al.   MUSCLE & NERVE

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

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

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

(2016) Naemeh Pourshafie et al.   MOLECULAR THERAPY

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

MRF4 negatively regulates adult skeletal muscle growth by repressing MEF2 activity

(2016) Irene Moretti et al.   Nature Communications

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

(2016) Elisa Giorgetti et al.   Cell Reports

The aspartyl protease DDI2 activates Nrf1 to compensate for proteasome dysfunction

(2016) Shun Koizumi et al.   eLife

Silencing neuronal mutant androgen receptor in a mouse model of spinal and bulbar muscular atrophy

(2015) Kentaro Sahashi et al.   HUMAN MOLECULAR GENETICS

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

Correlation of clinical and molecular features in spinal bulbar muscular atrophy

(2014) P. Fratta et al.   NEUROLOGY

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

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

Pilot trial of clenbuterol in spinal and bulbar muscular atrophy

(2013) G. Querin et al.   NEUROLOGY

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

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

Microarray Analysis of Gene Expression by Skeletal Muscle of Three Mouse Models of Kennedy Disease/Spinal Bulbar Muscular Atrophy

(2010) Kaiguo Mo et al.   PLoS One

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

(2009) Haruhiko Banno et al.   ANNALS OF NEUROLOGY

Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease)

(2009) N. Preisler et al.   NEUROLOGY

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

(2009) Isabella Palazzolo et al.   NEURON