ArticleEMBO molecular medicine2019
Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome.
Article in EMBO molecular medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.Biological psychiatry · 2024Pooled it
- The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.Clinical genetics · 2025Article
- Unravelling the conundrum of nucleolar NR2F1 localization using antibody-based approaches in vitro and in vivo.Communications biology · 2025Article
- Case Report: AFrontiers in medicine · 2025Article
- Comparative gene regulatory networks modulatingmedRxiv : the preprint server for health sciences · 2024Article
- Involvement of nr2f genes in brain regionalization and eye development during early zebrafish development.Development, growth & differentiation · 2024Article
- Molecular mechanisms controlling vertebrate retinal patterning, neurogenesis, and cell fate specification.Trends in genetics : TIG · 2023Review
- NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome.Disease models & mechanisms · 2023Article
- Siponimod exerts neuroprotective effects on the retina and higher visual pathway through neuronal S1PR1 in experimental glaucoma.Neural regeneration research · 2023Article
- Optic cup morphogenesis across species and related inborn human eye defects.Development (Cambridge, England) · 2023Review
- NovelIndian journal of ophthalmology · 2022Article
- Review
- Genetic Complementation of ATP Synthase Deficiency Due to Dysfunction of TMEM70 Assembly Factor in Rat.Biomedicines · 2022Article
- Long-Term Effects of Ionizing Radiation on the Hippocampus: Linking Effects of the Sonic Hedgehog Pathway Activation with Radiation Response.International journal of molecular sciences · 2021Article
- Dynamic expression of NR2F1 and SOX2 in developing and adult human cortex: comparison with cortical malformations.Brain structure & function · 2021Article
- Structural and Functional Aspects of the Neurodevelopmental GeneFrontiers in molecular neuroscience · 2021Review
- PathogenicBrain communications · 2021Article
- NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients.The EMBO journal · 2020Article
- Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.Human molecular genetics · 2020Article
- Regulation of Oligodendrocyte Functions: Targeting Lipid Metabolism and Extracellular Matrix for Myelin Repair.Journal of clinical medicine · 2020Review
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
Abstract
Optic nerve atrophy represents the most common form of hereditary optic neuropathies leading to vision impairment. The recently described Bosch-Boonstra-Schaaf optic atrophy (BBSOA) syndrome denotes an autosomal dominant genetic form of neuropathy caused by mutations or deletions in the NR2F1 gene. Herein, we describe a mouse model recapitulating key features of BBSOA patients-optic nerve atrophy, optic disc anomalies, and visual deficits-thus representing the only available mouse model for this syndrome. Notably, Nr2f1-deficient optic nerves develop an imbalance between oligodendrocytes and astrocytes leading to postnatal hypomyelination and astrogliosis. Adult heterozygous mice display a slower optic axonal conduction velocity from the retina to high-order visual centers together with associative visual learning deficits. Importantly, some of these clinical features, such the optic nerve hypomyelination, could be rescued by chemical drug treatment in early postnatal life. Overall, our data shed new insights into the cellular mechanisms of optic nerve atrophy in BBSOA patients and open a promising avenue for future therapeutic approaches.
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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.