ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2009
Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 41 citations in OpenAlex.
- Junctions in Jeopardy: the neuromuscular junction is a selective pathological target in Charcot-Marie-Tooth disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy.Neurobiology of disease · 2024Article
- Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy.bioRxiv : the preprint server for biology · 2024Article
- Structure and Function of the Mammalian Neuromuscular Junction.Comprehensive Physiology · 2022Article
- Wrestling and Wrapping: A Perspective on SUMO Proteins in Schwann Cells.Biomolecules · 2021Review
- New evidence for secondary axonal degeneration in demyelinating neuropathies.Neuroscience letters · 2021Review
- Targeting the programmed axon degeneration pathway as a potential therapeutic for Charcot-Marie-Tooth disease.Brain research · 2020Review
- DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice.Molecular and cellular biology · 2018Article
- Sox2 expression in Schwann cells inhibits myelinationDevelopment (Cambridge, England) · 2017Article
- Microprocessor complex subunit DiGeorge syndrome critical region gene 8 (Dgcr8) is required for schwann cell myelination and myelin maintenance.The Journal of biological chemistry · 2015Article
- The tumour suppressor LKB1 regulates myelination through mitochondrial metabolism.Nature communications · 2014Article
- Genome-wide analysis of EGR2/SOX10 binding in myelinating peripheral nerve.Nucleic acids research · 2012Article
- The nucleosome remodeling and deacetylase chromatin remodeling (NuRD) complex is required for peripheral nerve myelination.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2012Article
- MAB-10/NAB acts with LIN-29/EGR to regulate terminal differentiation and the transition from larva to adult in C. elegans.Development (Cambridge, England) · 2011Article
- Schwann cell mitochondrial metabolism supports long-term axonal survival and peripheral nerve function.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2011Article
- Axonally derived neuregulin-1 is required for remyelination and regeneration after nerve injury in adulthood.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2011Article
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- Locus-wide identification of Egr2/Krox20 regulatory targets in myelin genes.Journal of neurochemistry · 2010Article
- EGR1, EGR2, and EGR3 activate the expression of their coregulator NAB2 establishing a negative feedback loop in cells of neuroectodermal and epithelial origin.Journal of cellular biochemistry · 2010Article
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Authors and funding
8 authors at 1 institution in 1 country.
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Abstract
Mouse models of human disease are helpful for understanding the pathogenesis of the disorder and ultimately for testing potential therapeutic agents. Here, we describe the engineering and characterization of a mouse carrying the I268N mutation in Egr2, observed in patients with recessively inherited Charcot-Marie-Tooth (CMT) disease type 4E, which is predicted to alter the ability of Egr2 to interact with the Nab transcriptional coregulatory proteins. Mice homozygous for Egr2(I268N) develop a congenital hypomyelinating neuropathy similar to their human counterparts. Egr2(I268N) is expressed at normal levels in developing nerve but is unable to interact with Nab proteins or to properly activate transcription of target genes critical for proper peripheral myelin development. Interestingly, Egr2(I268N/I268N) mutant mice maintain normal weight and have only mild tremor until 2 weeks after birth, at which point they rapidly develop worsening weakness and uniformly die within several days. Nerve electrophysiology revealed conduction block, and neuromuscular junctions showed marked terminal sprouting similar to that seen in animals with pharmacologically induced blockade of action potentials or neuromuscular transmission. These studies describe a unique animal model of CMT, whereby weakness is due to conduction block or neuromuscular junction failure rather than secondary axon loss and demonstrate that the Egr2-Nab complex is critical for proper peripheral nerve myelination.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.