ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2013
Gait abnormalities and progressive myelin degeneration in a new murine model of Pelizaeus-Merzbacher disease with tandem genomic duplication.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 24 citations in OpenAlex.
- Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia.Biomedicines · 2022Review
- Targeted genome editing in vivo corrects a Dmd duplication restoring wild-type dystrophin expression.EMBO molecular medicine · 2021Article
- The wmN1 Enhancer Region of the Mouse Myelin Proteolipid Protein Gene (mPlp1) is Indispensable for Expression of an mPlp1-lacZ Transgene in Both the CNS and PNS.Neurochemical research · 2020Article
- Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS.Molecular therapy. Nucleic acids · 2018Article
- Tau in Oligodendrocytes Takes Neurons in Sickness and in Health.International journal of molecular sciences · 2018Review
- Article
- Insertion of proteolipid protein into mitochondria but not DM20 regulates metabolism of cells.Neuroscience letters · 2018Article
- Neurogenetics of Pelizaeus-Merzbacher disease.Handbook of clinical neurology · 2018Review
- Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.American journal of human genetics · 2017Article
- Concise Review: Stem Cell-Based Treatment of Pelizaeus-Merzbacher Disease.Stem cells (Dayton, Ohio) · 2017Review
- Novel pathologic findings in patients with Pelizaeus-Merzbacher disease.Neuroscience letters · 2016Article
- Inducible Expression of a Truncated Form of Tau in Oligodendrocytes Elicits Gait Abnormalities and a Decrease in Myelin: Implications for Selective CNS Degenerative Diseases.Neurochemical research · 2015Article
- Plp1 gene duplication inhibits airway responsiveness and induces lung inflammation.Pulmonary pharmacology & therapeutics · 2015Article
- Clinically relevant intronic splicing enhancer mutation in myelin proteolipid protein leads to progressive microglia and astrocyte activation in white and gray matter regions of the brain.Journal of neuroinflammation · 2013Article
- Effects of Intron 1 Sequences on Human PLP1 Expression: Implications for PLP1-Related Disorders.ASN neuroReview
- Article
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
Abstract
Pelizaeus-Merzbacher disease (PMD) is a hypomyelinating leukodystrophy caused by mutations of the proteolipid protein 1 gene (PLP1), which is located on the X chromosome and encodes the most abundant protein of myelin in the central nervous sytem. Approximately 60% of PMD cases result from genomic duplications of a region of the X chromosome that includes the entire PLP1 gene. The duplications are typically in a head-to-tail arrangement, and they vary in size and gene content. Although rodent models with extra copies of Plp1 have been developed, none contains an actual genomic rearrangement that resembles those found in PMD patients. We used mutagenic insertion chromosome engineering resources to generate the Plp1dup mouse model by introducing an X chromosome duplication in the mouse genome that contains Plp1 and five neighboring genes that are also commonly duplicated in PMD patients. The Plp1dup mice display progressive gait abnormalities compared with wild-type littermates. The single duplication leads to increased transcript levels of Plp1 and four of the five other duplicated genes over wild-type levels in the brain beginning the second postnatal week. The Plp1dup mice also display altered transcript levels of other important myelin proteins leading to a progressive degeneration of myelin. Our results show that a single duplication of the Plp1 gene leads to a phenotype similar to the pattern seen in human PMD patients with duplications.
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Registered trials
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.