ArticleThe Journal of biological chemistry2010
Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation.
Article in The Journal of biological chemistry, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 90 citations in OpenAlex.
- Whole-exome sequencing identifies matrisomal gene associations in monogenic cerebral small vessel disease.Journal of neurology · 2026Article
- The internal limiting basement membrane inhibits functional engraftment of transplanted human retinal ganglion cells in vivo.Science translational medicine · 2026Article
- Poretti-Boltshauser Syndrome in a Toddler: Novel Neuroimaging Features and Clinical Presentation.Cureus · 2025Article
- A Review of the Ocular Phenotype and Correlation with Genotype in Poretti-Boltshauser Syndrome.Medicina (Kaunas, Lithuania) · 2025Review
- Rare intercellular material transfer as a confound to interpreting inner retinal neuronal transplantation following internal limiting membrane disruption.Stem cell reports · 2023Article
- Artificial intelligence and the analysis of cryo-EM data provide structural insight into the molecular mechanisms underlying LN-lamininopathies.Scientific reports · 2023Article
- An adhesion signaling axis involving Dystroglycan, β1-Integrin, and Cas adaptor proteins regulates the establishment of the cortical glial scaffold.PLoS biology · 2023Article
- Retinal self-organization: a model of retinal ganglion cells and starburst amacrine cells mosaic formation.Open biology · 2023Article
- Microglia refine developing retinal astrocytic and vascular networks through the complement C3/C3aR axis.Development (Cambridge, England) · 2023Article
- Effects of experimental glaucoma in Lama1Experimental eye research · 2023Article
- Chondroitin sulfate enhances the barrier function of basement membrane assembled by heparan sulfate.Development (Cambridge, England) · 2022Article
- The internal limiting membrane: Roles in retinal development and implications for emerging ocular therapies.Experimental eye research · 2021Review
- Role of the Internal Limiting Membrane in Structural Engraftment and Topographic Spacing of Transplanted Human Stem Cell-Derived Retinal Ganglion Cells.Stem cell reports · 2021Article
- Laminin Polymerization and Inherited Disease: Lessons From Genetics.Frontiers in genetics · 2021Review
- Transcriptomic Profiling of Adipose Derived Stem Cells Undergoing Osteogenesis by RNA-Seq.Scientific reports · 2019Article
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- Basal lamina remodeling at the skeletal muscle stem cell niche mediates stem cell self-renewal.Nature communications · 2018Article
- CYP1B1: A key regulator of redox homeostasis.Trends in cell & molecular biology · 2018Article
- Effects of High Glucose on the Expression of LAMA1 and Biological Behavior of Choroid Retinal Endothelial Cells.Journal of diabetes research · 2018Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 3 countries.
Funding
Abstract
The Neuromutagenesis Facility at the Jackson Laboratory generated a mouse model of retinal vasculopathy, nmf223, which is characterized clinically by vitreal fibroplasia and vessel tortuosity. nmf223 homozygotes also have reduced electroretinogram responses, which are coupled histologically with a thinning of the inner nuclear layer. The nmf223 locus was mapped to chromosome 17, and a missense mutation was identified in Lama1 that leads to the substitution of cysteine for a tyrosine at amino acid 265 of laminin alpha1, a basement membrane protein. Despite normal localization of laminin alpha1 and other components of the inner limiting membrane, a reduced integrity of this structure was suggested by ectopic cells and blood vessels within the vitreous. Immunohistochemical characterization of nmf223 homozygous retinas demonstrated the abnormal migration of retinal astrocytes into the vitreous along with the persistence of hyaloid vasculature. The Y265C mutation significantly reduced laminin N-terminal domain (LN) interactions in a bacterial two-hybrid system. Therefore, this mutation could affect interactions between laminin alpha1 and other laminin chains. To expand upon these findings, a Lama1 null mutant, Lama1(tm1.1Olf), was generated that exhibits a similar but more severe retinal phenotype than that seen in nmf223 homozygotes. The increased severity of the Lama1 null mutant phenotype is probably due to the complete loss of the inner limiting membrane in these mice. This first report of viable Lama1 mouse mutants emphasizes the importance of this gene in retinal development. The data presented herein suggest that hypomorphic mutations in human LAMA1 could lead to retinal disease.
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Registered trials
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