ArticleThe Journal of clinical investigation2013
Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model.
Article in The Journal of clinical investigation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
52 citing papers in PubMed, 78 citations in OpenAlex.
- LMNB1 reduction is a potential therapeutic strategy in a mouse model of autosomal dominant leukodystrophy.JCI insight · 2026Article
- Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance ofNeurology. Genetics · 2025Review
- Clinical Reasoning: A 63-Year-Old Female Patient Presenting With Orthostatic Hypotension and Ataxia.Neurology · 2025Article
- A high throughput, high content screen for non-toxic small molecules that reduce levels of the nuclear lamina protein, Lamin B1.Scientific reports · 2025Article
- An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.Nature communications · 2025Article
- Neuroglial Pathophysiology of Leukodystrophies.Advances in neurobiology · 2025Review
- The nuclear envelope and nuclear pore complexes in neurodegenerative diseases.Frontiers in cell and developmental biology · 2025Review
- Manipulation of the nuclear envelope-associated protein SLAP during mammalian brain development affects cortical lamination and exploratory behavior.Biology open · 2024Article
- Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models.Molecular neurobiology · 2023Review
- The stability of the myelinating oligodendrocyte transcriptome is regulated by the nuclear lamina.Cell reports · 2023Article
- The epigenetic landscape of oligodendrocyte lineage cells.Annals of the New York Academy of Sciences · 2023Review
- Lamin B1 as a key modulator of the developing and aging brain.Frontiers in cellular neuroscience · 2023Review
- Impact of Nuclear Envelope Stress on Physiological and Pathological Processes in Central Nervous System.Neurochemical research · 2022Review
- The wide and growing range of lamin B-related diseases: from laminopathies to cancer.Cellular and molecular life sciences : CMLS · 2022Review
- JAB1 deletion in oligodendrocytes causes senescence-induced inflammation and neurodegeneration in mice.The Journal of clinical investigation · 2022Article
- Molecular Pathology of Laminopathies.Annual review of pathology · 2022Review
- Emerging cellular themes in leukodystrophies.Frontiers in cell and developmental biology · 2022Review
- Review
- Development and Optimization of a High-Content Analysis Platform to Identify Suppressors of Lamin B1 Overexpression as a Therapeutic Strategy for Autosomal Dominant Leukodystrophy.SLAS discovery : advancing life sciences R & D · 2020Article
- Nuclear envelope rupture and NET formation is driven by PKCα-mediated lamin B disassembly.EMBO reports · 2020Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
Adult-onset autosomal-dominant leukodystrophy (ADLD) is a progressive and fatal neurological disorder characterized by early autonomic dysfunction, cognitive impairment, pyramidal tract and cerebellar dysfunction, and white matter loss in the central nervous system. ADLD is caused by duplication of the LMNB1 gene, which results in increased lamin B1 transcripts and protein expression. How duplication of LMNB1 leads to myelin defects is unknown. To address this question, we developed a mouse model of ADLD that overexpresses lamin B1. These mice exhibited cognitive impairment and epilepsy, followed by age-dependent motor deficits. Selective overexpression of lamin B1 in oligodendrocytes also resulted in marked motor deficits and myelin defects, suggesting these deficits are cell autonomous. Proteomic and genome-wide transcriptome studies indicated that lamin B1 overexpression is associated with downregulation of proteolipid protein, a highly abundant myelin sheath component that was previously linked to another myelin-related disorder, Pelizaeus-Merzbacher disease. Furthermore, we found that lamin B1 overexpression leads to reduced occupancy of Yin Yang 1 transcription factor at the promoter region of proteolipid protein. These studies identify a mechanism by which lamin B1 overexpression mediates oligodendrocyte cell-autonomous neuropathology in ADLD and implicate lamin B1 as an important regulator of myelin formation and maintenance during aging.
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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.