Neuromuscular junction pathology is correlated with differential motor unit vulnerability in spinal and bulbar muscular atrophy

Skeletal muscle undergoes fiber type metabolic switch without myosin heavy chain switch in response to defective fatty acid oxidation

(2022) Andrea S. Pereyra et al.   Molecular Metabolism

NMJ-Analyser identifies subtle early changes in mouse models of neuromuscular disease

(2021) Alan Mejia Maza et al.   Scientific Reports

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

MEF2 impairment underlies skeletal muscle atrophy in polyglutamine disease

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

Linking epigenetic dysregulation, mitochondrial impairment, and metabolic dysfunction in SBMA motor neurons

(2020) Naemeh Pourshafie et al.   JCI Insight

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

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

Acetylcholine receptors in the equatorial region of intrafusal muscle fibres modulate mouse muscle spindle sensitivity

(2019) Laura Gerwin et al.   JOURNAL OF PHYSIOLOGY-LONDON

‘Fragmentation’ of NMJs: a sign of degeneration or regeneration? A long journey with many junctions

(2019) Clarke R. Slater   NEUROSCIENCE

BDNF is a mediator of glycolytic fiber-type specification in mouse skeletal muscle

(2019) Julien Delezie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Plasma pNfH levels differentiate SBMA from ALS

(2019) Vittoria Lombardi et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Neuromuscular Junction Formation, Aging, and Disorders

(2018) Lei Li et al.   Annual Review of Physiology

Pre-clinical symptoms of SBMA may not be androgen-dependent: implications from two SBMA mouse models

(2018) Youfen Xu et al.   HUMAN MOLECULAR GENETICS

The vulnerability of spinal motoneurons and soma size plasticity in a mouse model of amyotrophic lateral sclerosis

(2018) S. Shekar Dukkipati et al.   JOURNAL OF PHYSIOLOGY-LONDON

Hypoexcitability precedes denervation in the large fast-contracting motor units in two unrelated mouse models of ALS

(2018) María de Lourdes Martínez-Silva et al.   eLife

Phenotypic and molecular features underlying neurodegeneration of motor neurons derived from spinal and bulbar muscular atrophy patients

(2018) Marianne Sheila et al.   NEUROBIOLOGY OF DISEASE

Neurofilaments and Neurofilament Proteins in Health and Disease

(2017) Aidong Yuan et al.   Cold Spring Harbor Perspectives in Biology

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

(2017) Shinichiro Yamada et al.   PLoS One

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

Defects in Neuromuscular Transmission May Underlie Motor Dysfunction in Spinal and Bulbar Muscular Atrophy

(2016) Youfen Xu et al.   JOURNAL OF NEUROSCIENCE

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

(2016) Manu Jokela et al.   PLoS One

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

(2016) Elisa Giorgetti et al.   Cell Reports

NMJ-morph reveals principal components of synaptic morphology influencing structure–function relationships at the neuromuscular junction

(2016) Ross A. Jones et al.   Open Biology

Neurofilament dynamics and involvement in neurological disorders

(2015) Benoit J. Gentil et al.   CELL AND TISSUE RESEARCH

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

(2015) Kentaro Sahashi et al.   HUMAN MOLECULAR GENETICS

Proteasome-mediated Proteolysis of the Polyglutamine-expanded Androgen Receptor Is a Late Event in Spinal and Bulbar Muscular Atrophy (SBMA) Pathogenesis

(2015) Erin M. Heine et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Role of the Protein Quality Control System in SBMA

(2015) Paola Rusmini et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Distinct Etiological Roles for Myocytes and Motor Neurons in a Mouse Model of Kennedy's Disease/Spinobulbar Muscular Atrophy

(2015) F. Ramzan et al.   JOURNAL OF NEUROSCIENCE

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

(2015) Lori Zboray et al.   Cell Reports

Brugada syndrome in spinal and bulbar muscular atrophy

(2014) A. Araki et al.   NEUROLOGY

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

Motor neurons and the generation of spinal motor neuron diversity

(2014) Nicolas Stifani   Frontiers in Cellular Neuroscience

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

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

Testosterone treatment fails to accelerate disease in a transgenic mouse model of spinal and bulbar muscular atrophy

(2011) E. S. Chevalier-Larsen et al.   Disease Models & Mechanisms

Impaired motoneuronal retrograde transport in two models of SBMA implicates two sites of androgen action

(2011) Michael Q. Kemp et al.   HUMAN MOLECULAR GENETICS

Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy

(2011) K. K. Y. Ling et al.   HUMAN MOLECULAR GENETICS

Fiber Types in Mammalian Skeletal Muscles

(2011) Stefano Schiaffino et al.   PHYSIOLOGICAL REVIEWS

An Interdomain Interaction of the Androgen Receptor Is Required for Its Aggregation and Toxicity in Spinal and Bulbar Muscular Atrophy

(2010) Christopher R. Orr et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

The Proteasome-Associated Deubiquitinating Enzyme Usp14 Is Essential for the Maintenance of Synaptic Ubiquitin Levels and the Development of Neuromuscular Junctions

(2009) P.-C. Chen et al.   JOURNAL OF NEUROSCIENCE

FOXO3a Is Broadly Neuroprotective In Vitro and In Vivo against Insults Implicated in Motor Neuron Diseases

(2009) J. Mojsilovic-Petrovic et al.   JOURNAL OF NEUROSCIENCE

Essential roles of the acetylcholine receptor  -subunit in neuromuscular synaptic patterning

(2008) Y. Liu et al.   DEVELOPMENT

Mitochondrial abnormalities in spinal and bulbar muscular atrophy

(2008) Srikanth Ranganathan et al.   HUMAN MOLECULAR GENETICS

Preferential motor unit loss in the SOD1G93Atransgenic mouse model of amyotrophic lateral sclerosis

(2008) J. Hegedus et al.   JOURNAL OF PHYSIOLOGY-LONDON