ArticleHuman molecular genetics2015
Messenger RNA processing is altered in autosomal dominant leukodystrophy.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 32 citations in OpenAlex.
- Lamin B1 regulates RNA splicing factor expression by modulating the spatial positioning and chromatin interactions of theAnimal cells and systems · 2025Article
- Case report:Frontiers in neuroscience · 2025Article
- Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models.Molecular neurobiology · 2023Review
- Lamin B1 as a key modulator of the developing and aging brain.Frontiers in cellular neuroscience · 2023Review
- Construction of a combined random forest and artificial neural network diagnosis model to screening potential biomarker for hepatoblastoma.Pediatric surgery international · 2022Article
- The wide and growing range of lamin B-related diseases: from laminopathies to cancer.Cellular and molecular life sciences : CMLS · 2022Review
- Aire-dependent transcripts escape Raver2-induced splice-event inclusion in the thymic epithelium.EMBO reports · 2022Article
- Correlation between gene expression and MRI STIR signals in patients with chronic low back pain and Modic changes indicates immune involvement.Scientific reports · 2022Article
- A deep hybrid learning pipeline for accurate diagnosis of ovarian cancer based on nuclear morphology.PloS one · 2022Article
- Cell signaling pathways in autosomal-dominant leukodystrophy (ADLD): the intriguing role of the astrocytes.Cellular and molecular life sciences : CMLS · 2021Article
- Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification.Journal of human genetics · 2019Article
- Analysis of RNA Expression Profiles Identifies Dysregulated Vesicle Trafficking Pathways in Creutzfeldt-Jakob Disease.Molecular neurobiology · 2019Article
- Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy.Acta neurologica Scandinavica · 2019Article
- LMNB1-Related Adult-Onset Autosomal Dominant Leukodystrophy Presenting as Movement Disorder: A Case Report and Review of the Literature.Frontiers in neuroscience · 2019Article
- Autosomal Dominant Leukodystrophy: A Disease of the Nuclear Lamina.Frontiers in cell and developmental biology · 2019Review
- Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD).Experimental neurology · 2018Article
- Lamin B1 levels modulate differentiation into neurons during embryonic corticogenesis.Scientific reports · 2017Article
- Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies.Nucleus (Austin, Tex.) · 2016Review
- RNA mis-splicing in disease.Nature reviews. Genetics · 2016Review
- Lamin B1 protein is required for dendrite development in primary mouse cortical neurons.Molecular biology of the cell · 2016Article
Corrections and comments
- Erratum issued
Authors and funding
13 authors at 5 institutions in 1 country.
Funding
Abstract
Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurological disorder characterized by autonomic dysfunction, followed by cerebellar and pyramidal features. ADLD is caused by duplication of the lamin B1 gene (LMNB1), which leads to its increased expression. The molecular pathways involved in the disease are still poorly understood. Hence, we analyzed global gene expression in fibroblasts and whole blood of LMNB1 duplication carriers and used Gene Set Enrichment Analysis to explore their gene signatures. We found that LMNB1 duplication is associated with dysregulation of genes involved in the immune system, neuronal and skeletal development. Genes with an altered transcriptional profile clustered in specific genomic regions. Among the dysregulated genes, we further studied the role of RAVER2, which we found to be overexpressed at mRNA and protein level. RAVER2 encodes a putative trans regulator of the splicing repressor polypyrimidine tract binding protein (PTB) and is likely implicated in alternative splicing regulation. Functional studies demonstrated an abnormal splicing pattern of several PTB-target genes and of the myelin protein gene PLP1, previously demonstrated to be involved in ADLD. Mutant mice with different lamin B1 expression levels confirmed that Raver2 expression is dependent on lamin B1 in neural tissue and determines an altered splicing pattern of PTB-target genes and Plp1. Overall our results demonstrate that deregulation of lamin B1 expression induces modified splicing of several genes, likely driven by raver-2 overexpression, and suggest that an alteration of mRNA processing could be a pathogenic mechanism in ADLD.
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