ArticleMolecular brain2017
Proteasome impairment in neural cells derived from HMSN-P patient iPSCs.
Article in Molecular brain, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 21 citations in OpenAlex.
- Base editing rescues a hereditary motor neuron disease in mouse and patient-derived iPSC organoid models.Molecular therapy. Advances · 2026Article
- TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration.CNS neuroscience & therapeutics · 2022Article
- TFG regulates secretory and endosomal sorting pathways in neurons to promote their activity and maintenance.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Involvement of neuronal and muscular Trk-fused gene (TFG) defects in the development of neurodegenerative diseases.Scientific reports · 2022Article
- Prediction Model of Amyotrophic Lateral Sclerosis by Deep Learning with Patient Induced Pluripotent Stem Cells.Annals of neurology · 2021Article
- Neuronal apolipoprotein E4 increases cell death and phosphorylated tau release in alzheimer disease.Annals of neurology · 2019Article
- Review
- Genome Editing in Induced Pluripotent Stem Cells using CRISPR/Cas9.Stem cell reviews and reports · 2018Review
- The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) in 97 Japanese patients.Intractable & rare diseases research · 2018Article
- Unraveling the Role of Heme in Neurodegeneration.Frontiers in neuroscience · 2018Review
- Editing the genome of hiPSC with CRISPR/Cas9: disease models.Mammalian genome : official journal of the International Mammalian Genome Society · 2017Review
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a heterozygous mutation (P285L) in Tropomyosin-receptor kinase Fused Gene (TFG), histopathologically characterized by progressive spinal motor neuron loss with TFG cytosolic aggregates. Although the TFG protein, found as a type of fusion oncoprotein, is known to facilitate vesicle transport from endoplasmic reticulum (ER) to Golgi apparatus at ER exit site, it is unclear how mutant TFG causes motor neuron degeneration. Here we generated induced pluripotent stem cells (iPSCs) from HMSN-P patients, and differentiated the iPSCs into neural cells with spinal motor neurons (iPS-MNs). We found that HMSN-P patient iPS-MNs exhibited ubiquitin proteasome system (UPS) impairment, and HMSN-P patient iPS-MNs were vulnerable to UPS inhibitory stress. Gene correction of the mutation in TFG using the CRISPR-Cas9 system reverted the cellular phenotypes of HMSN-P patient iPS-MNs. Collectively, these results suggest that our cellular model with defects in cellular integrity including UPS impairments may lead to identification of pathomechanisms and a therapeutic target for HMSN-P.
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