ArticleBMC neuroscience2014
Defects in the retina of Niemann-pick type C 1 mutant mice.
Article in BMC neuroscience, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 19 citations in OpenAlex.
- Differential gene expression patterns in Niemann-Pick Type C and Tay-Sachs diseases: Implications for neurodegenerative mechanisms.PloS one · 2025Article
- Differently increased volumes of multiple brain areas inFrontiers in neuroanatomy · 2024Article
- Proteomic analysis of s-acylated proteins in human retinal pigment epithelial cells and the role of palmitoylation of Niemann-Pick type C1 protein in cholesterol transport.Frontiers in aging neuroscience · 2022Article
- Myelinosome Organelles in the Retina of R6/1 Huntington Disease (HD) Mice: Ubiquitous Distribution and Possible Role in Disease Spreading.International journal of molecular sciences · 2021Article
- Gender-Specific Effects of Two Treatment Strategies in a Mouse Model of Niemann-Pick Disease Type C1.International journal of molecular sciences · 2021Article
- Retinal axonal degeneration in Niemann-Pick type C disease.Journal of neurology · 2020Article
- Multimodal imaging including optical coherence tomography angiography in patients with type B Niemann-Pick disease.International ophthalmology · 2019Article
- Current Challenges in Understanding the Cellular and Molecular Mechanisms in Niemann-Pick Disease Type C1.International journal of molecular sciences · 2019Review
- Main Olfactory and Vomeronasal Epithelium Are Differently Affected in Niemann-Pick Disease Type C1.International journal of molecular sciences · 2018Article
- Evaluation of Two Liver Treatment Strategies in a Mouse Model of Niemann-Pick-Disease Type C1.International journal of molecular sciences · 2018Article
- Olfactory Performance as an Indicator for Protective Treatment Effects in an Animal Model of Neurodegeneration.Frontiers in integrative neuroscience · 2018Article
- A saposin deficiency model in Drosophila: Lysosomal storage, progressive neurodegeneration and sensory physiological decline.Neurobiology of disease · 2017Article
- Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-ß-cyclodextrin.Orphanet journal of rare diseases · 2015Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNiemann-Pick type C1 (NPC1) disease is an inherited lysosomal storage disease caused by mutation of the Npc1 gene, resulting in a progressive accumulation of unesterified cholesterol and glycolipids in lysosomes of multiple tissues and leading to neurodegeneration and other disease. In Npc1 mutant mice, retinal degeneration including impaired visual function, lipofuscin accumulation in the pigment epithelium and ganglion cells as well as photoreceptor defects has been found. However, the pathologies of other individual cell types of the retina in Npc1 mutant mice are still not fully clear. We hypothesized that horizontal cells, amacrine cells, bipolar cells and glial cells are also affected in the retina of Npc1 mutant mice.
resultsImmunohistochemistry and electron microscopy were used to investigate pathologies of ganglion cells, horizontal cells, amacrine cells, bipolar cells, and optic nerves as well as altered activity of glial cells in Npc1 mutant mice. Electron microscopy reveals that electron-dense inclusions are generally accumulated in ganglion cells, bipolar cells, Müller cells, and in the optic nerve. Furthermore, abnormal arborisation and ectopic processes of horizontal and amacrine cells as well as defective bipolar cells are observed by immunohistochemistry for specific cellular markers. Furthermore, hyperactivity of glial cells, including astrocytes, microglial cells, and Müller cells, is also revealed.
conclusionsOur data extend previous findings to show multiple defects in the retina of Npc1 mutant mice, suggesting an important role of Npc1 protein in the normal function of the retina.
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