ArticleNeurobiology of disease2014
Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients.
Article in Neurobiology of disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 54 citations in OpenAlex.
- Restoring early postnatal synaptic dysregulation rescues motor neuron degeneration in a mouse model of Spinal and Bulbar Muscular Atrophy.Nature communications · 2026Article
- PROTACs therapeutically target the polyglutamine androgen receptor in spinal and bulbar muscular atrophy models.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025Article
- Exploring Motor Neuron Diseases Using iPSC Platforms.Stem cells (Dayton, Ohio) · 2022Article
- Review
- Progress and challenges in directing the differentiation of human iPSCs into spinal motor neurons.Frontiers in cell and developmental biology · 2022Review
- Polymerases and DNA Repair in Neurons: Implications in Neuronal Survival and Neurodegenerative Diseases.Frontiers in cellular neuroscience · 2022Review
- Exploring the Role of Posttranslational Modifications in Spinal and Bulbar Muscular Atrophy.Frontiers in molecular neuroscience · 2022Review
- Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity.Science advances · 2021Article
- A Human-Based Functional NMJ System for Personalized ALS Modeling and Drug Testing.Advanced therapeutics · 2020Article
- Sex-dependent effect ofDisease models & mechanisms · 2020Review
- Linking epigenetic dysregulation, mitochondrial impairment, and metabolic dysfunction in SBMA motor neurons.JCI insight · 2020Article
- Human embryoid bodies as a 3D tissue model of the extracellular matrix and α-dystroglycanopathies.Disease models & mechanisms · 2020Article
- Sonic Hedgehog-Gli1 Signaling and Cellular Retinoic Acid Binding Protein 1 Gene Regulation in Motor Neuron Differentiation and Diseases.International journal of molecular sciences · 2020Article
- Unveiling synapse pathology in spinal bulbar muscular atrophy by genome-wide transcriptome analysis of purified motor neurons derived from disease specific iPSCs.Molecular brain · 2020Article
- Modeling Polyglutamine Expansion Diseases with Induced Pluripotent Stem Cells.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2019Review
- Histone deacetylase 6 interference protects mice against experimental stroke-induced brain injury via activating Nrf2/HO-1 pathway.Animal cells and systems · 2019Article
- Prediction of key gene function in spinal muscular atrophy using guilt by association method based on network and gene ontology.Experimental and therapeutic medicine · 2019Article
- Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy.Scientific reports · 2019Article
- Nucleocytoplasmic transport defect in a North American patient with ALS8.Annals of clinical and translational neurology · 2018Article
- Inhibition of retrograde transport modulates misfolded protein accumulation and clearance in motoneuron diseases.Autophagy · 2017Article
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
Abstract
Spinal and bulbar muscular atrophy (SBMA, Kennedy's disease) is a motor neuron disease caused by polyglutamine repeat expansion in the androgen receptor. Although degeneration occurs in the spinal cord and muscle, the exact mechanism is not clear. Induced pluripotent stem cells from spinal and bulbar muscular atrophy patients provide a useful model for understanding the disease mechanism and designing effective therapy. Stem cells were generated from six patients and compared to control lines from three healthy individuals. Motor neurons from four patients were differentiated from stem cells and characterized to understand disease-relevant phenotypes. Stem cells created from patient fibroblasts express less androgen receptor than control cells, but show androgen-dependent stabilization and nuclear translocation. The expanded repeat in several stem cell clones was unstable, with either expansion or contraction. Patient stem cell clones produced a similar number of motor neurons compared to controls, with or without androgen treatment. The stem cell-derived motor neurons had immunoreactivity for HB9, Isl1, ChAT, and SMI-32, and those with the largest repeat expansions were found to have increased acetylated α-tubulin and reduced HDAC6. Reduced HDAC6 was also found in motor neuron cultures from two other patients with shorter repeats. Evaluation of stably transfected mouse cells and SBMA spinal cord showed similar changes in acetylated α-tubulin and HDAC6. Perinuclear lysosomal enrichment, an HDAC6 dependent process, was disrupted in motor neurons from two patients with the longest repeats. SBMA stem cells present new insights into the disease, and the observations of reduced androgen receptor levels, repeat instability, and reduced HDAC6 provide avenues for further investigation of the disease mechanism and development of effective therapy.
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