ArticleDevelopment (Cambridge, England)2006
Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndrome.
Article in Development (Cambridge, England), 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 81 citations in OpenAlex.
- Review
- Laminin Beta 2 Is Localized at the Sites of Blood-Brain Barrier and Its Disruption Is Associated With Increased Vascular Permeability, Histochemical, and Transcriptomic Study.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2024Article
- Blocking CHOP-dependent TXNIP shuttling to mitochondria attenuates albuminuria and mitigates kidney injury in nephrotic syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Laminin N-terminus α31 expression during development is lethal and causes widespread tissue-specific defects in a transgenic mouse model.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2022Article
- Post-synaptic specialization of the neuromuscular junction: junctional folds formation, function, and disorders.Cell & bioscience · 2022Review
- The proteomic profile of the human myotendinous junction.iScience · 2022Article
- PathogenicKidney360 · 2021Article
- A deletion in the N-terminal polymerizing domain of laminin β2 is a new mouse model of chronic nephrotic syndrome.Kidney international · 2020Article
- Basement Membrane Changes in Ischemic Stroke.Stroke · 2020Review
- Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism.The Journal of clinical endocrinology and metabolism · 2020Article
- Discovery of endoplasmic reticulum calcium stabilizers to rescue ER-stressed podocytes in nephrotic syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Laminin-521 Protein Therapy for Glomerular Basement Membrane and Podocyte Abnormalities in a Model of Pierson Syndrome.Journal of the American Society of Nephrology : JASN · 2018Article
- Pathogenicity of a Human LamininJournal of the American Society of Nephrology : JASN · 2018Article
- Basement Membranes in Development and Disease.Current topics in developmental biology · 2018Review
- Basement Membrane Defects in Genetic Kidney Diseases.Frontiers in pediatrics · 2018Review
- Elevated urinary CRELD2 is associated with endoplasmic reticulum stress-mediated kidney disease.JCI insight · 2017Article
- Mesencephalic astrocyte-derived neurotrophic factor (MANF), a new player in endoplasmic reticulum diseases: structure, biology, and therapeutic roles.Translational research : the journal of laboratory and clinical medicine · 2017Review
- Laminin: loss-of-function studies.Cellular and molecular life sciences : CMLS · 2017Review
- Article
- Mesencephalic Astrocyte-Derived Neurotrophic Factor as a Urine Biomarker for Endoplasmic Reticulum Stress-Related Kidney Diseases.Journal of the American Society of Nephrology : JASN · 2016Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Pierson syndrome is a recently defined disease usually lethal within the first postnatal months and caused by mutations in the gene encoding laminin beta2 (LAMB2). The hallmarks of Pierson syndrome are congenital nephrotic syndrome accompanied by ocular abnormalities, including microcoria (small pupils), with muscular and neurological developmental defects also present. Lamb2(-/-) mice are a model for Pierson syndrome; they exhibit defects in the kidney glomerular barrier, in the development and organization of the neuromuscular junction, and in the retina. Lamb2(-/-) mice fail to thrive and die very small at 3 weeks of age, but to what extent the kidney and neuromuscular defects each contribute to this severe phenotype has been obscure, though highly relevant to understanding Pierson syndrome. To investigate this, we generated transgenic mouse lines expressing rat laminin beta2 either in muscle or in glomerular epithelial cells (podocytes) and crossed them onto the Lamb2(-/-) background. Rat beta2 was confined in skeletal muscle to synapses and myotendinous junctions, and in kidney to the glomerular basement membrane. In transgenic Lamb2(-/-) mice, beta2 deposition in only glomeruli prevented proteinuria but did not ameliorate the severe phenotype. By contrast, beta2 expression in only muscle restored synaptic architecture and led to greatly improved health, but the mice died from kidney disease at 1 month. Rescue of both glomeruli and synapses was associated with normal weight gain, fertility and lifespan. We conclude that muscle defects in Lamb2(-/-) mice are responsible for the severe failure to thrive phenotype, and that renal replacement therapy alone will be an inadequate treatment for Pierson syndrome.
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