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

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

Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy

(2019) Vittoria Lombardi et al.   NEUROLOGY

DNA methylation inhibitor attenuates polyglutamine‐induced neurodegeneration by regulating Hes5

(2019) Naohide Kondo et al.   EMBO Molecular Medicine

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

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

Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity

(2019) Uros Klickovic et al.   NEUROLOGY

Src inhibition attenuates polyglutamine-mediated neuromuscular degeneration in spinal and bulbar muscular atrophy

(2019) Madoka Iida et al.   Nature Communications

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

(2018) Nisha M Badders et al.   NATURE MEDICINE

Biomarker-based analysis of preclinical progression in spinal and bulbar muscular atrophy

(2018) Yasuhiro Hijikata et al.   NEUROLOGY

Disease progression and outcome measures in spinobulbar muscle atrophy

(2018) Julia R. Dahlqvist et al.   ANNALS OF NEUROLOGY

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

Biomarkers of Spinal and Bulbar Muscle Atrophy (SBMA): A Comprehensive Review

(2018) Giorgia Querin et al.   Frontiers in Neurology

Long-term treatment with leuprorelin for spinal and bulbar muscular atrophy: natural history-controlled study

(2017) Atsushi Hashizume et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A severe phenotype of Kennedy disease associated with a very large CAG repeat expansion

(2017) João L. O. Madeira et al.   MUSCLE & NERVE

Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy

(2017) Robert D. Guber et al.   NEUROLOGY

Decreased Peak Expiratory Flow Associated with Muscle Fiber-Type Switching in Spinal and Bulbar Muscular Atrophy

(2017) Shinichiro Yamada et al.   PLoS One

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

Neuromuscular junctions are pathological but not denervated in two mouse models of spinal bulbar muscular atrophy

(2016) Jessica E. Poort et al.   HUMAN MOLECULAR GENETICS

Impaired muscle uptake of creatine in spinal and bulbar muscular atrophy

(2016) Yasuhiro Hijikata et al.   Annals of Clinical and Translational Neurology

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

(2015) Kentaro Sahashi et al.   HUMAN MOLECULAR GENETICS

A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study

(2015) Atsushi Hashizume et al.   NEUROMUSCULAR DISORDERS

Preventing the Androgen Receptor N/C Interaction Delays Disease Onset in a Mouse Model of SBMA

(2015) Lori Zboray et al.   Cell Reports

Androgen receptor: structure, role in prostate cancer and drug discovery

(2014) MH Eileen Tan et al.   ACTA PHARMACOLOGICA SINICA

Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

(2014) Christopher Grunseich et al.   NEUROMUSCULAR DISORDERS

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

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

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

Tongue pressure as a novel biomarker of spinal and bulbar muscular atrophy

(2013) T. Mano et al.   NEUROLOGY

Pilot trial of clenbuterol in spinal and bulbar muscular atrophy

(2013) G. Querin et al.   NEUROLOGY

Viral delivery of miR-196a ameliorates the SBMA phenotype via the silencing of CELF2

(2012) Yu Miyazaki et al.   NATURE MEDICINE

Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA)

(2012) Masahisa Katsuno et al.   PROGRESS IN NEUROBIOLOGY

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

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

(2011) Zhigang Yu et al.   PLoS Genetics

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

Clinical features of spinal and bulbar muscular atrophy

(2009) Lindsay E. Rhodes et al.   BRAIN

The profile of motor unit number estimation (MUNE) in spinal and bulbar muscular atrophy

(2009) K. Suzuki et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Standard and modified statistical mune evaluations in spinal-bulbar muscular atrophy

(2009) Tanya J. Lehky et al.   MUSCLE & NERVE

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

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

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