ArticlePloS one2018
Influence of full-length dystrophin on brain volumes in mouse models of Duchenne muscular dystrophy.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 12 citations in OpenAlex.
- Two Novel Mouse Models of Duchenne Muscular Dystrophy with Similar Dmd Exon 51 Frameshift Mutations and Varied Phenotype Severity.International journal of molecular sciences · 2024Article
- Age-associated sleep spindle characteristics in Duchenne muscular dystrophy.Sleep advances : a journal of the Sleep Research Society · 2024Article
- Brain magnetic resonance imaging in the DE50-MD dog model of Duchenne muscular dystrophy reveals regional reductions in cerebral gray matter.BMC neuroscience · 2023Article
- RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing.HGG advances · 2022Article
- Emotional behavior and brain anatomy of the mdx52 mouse model of Duchenne muscular dystrophy.Disease models & mechanisms · 2021Article
- Cognitive impairment appears progressive in the mdx mouse.Neuromuscular disorders : NMD · 2020Article
- Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy.Molecular neurobiology · 2020Review
- Neurocognitive Impairment in mdx Mice.Molecular neurobiology · 2019Article
- Dystrophin deficiency leads to dysfunctional glutamate clearance in iPSC derived astrocytes.Translational psychiatry · 2019Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Duchenne muscular dystrophy (DMD) affects besides muscle also the brain, resulting in memory and behavioral problems. The consequences of dystrophinopathy on gross macroscopic alterations are unclear. To elucidate the effect of full-length dystrophin expression on brain morphology, we used high-resolution post-mortem MRI in mouse models that either express 0% (mdx), 100% (BL10) or a low amount of full-length dystrophin (mdx-XistΔhs). While absence or low amounts of full-length dystrophin did not significantly affect whole brain volume and skull morphology, we found differences in volume of individual brain structures. The results are in line with observations in humans, where whole brain volume was found to be reduced only in patients lacking both full-length dystrophin and the shorter isoform Dp140.
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