ArticleHuman molecular genetics2011
Neurofibromin (Nf1) is required for skeletal muscle development.
Article in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 68 citations in OpenAlex.
- Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.Orphanet journal of rare diseases · 2026Article
- Metabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling.PLoS genetics · 2026Article
- Exercise-Induced Meat Quality Improvement Is Associated with an lncRNA-miRNA-mRNA Network in Tibetan Sheep.Biology · 2026Article
- The impact of RAS on cell differentiation in health and disease.The Biochemical journal · 2025Review
- Loss of NF1 Accelerates Uveal and Intradermal Melanoma Tumorigenesis, and Oncogenic GNAQ Transforms Schwann Cells.Cancer research communications · 2025Article
- RASopathies - what they reveal about RAS/MAPK signaling in skeletal muscle development.Disease models & mechanisms · 2024Review
- Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.Journal of neurology · 2024Article
- Neurofibromin 1 controls metabolic balance and Notch-dependent quiescence of murine juvenile myogenic progenitors.Nature communications · 2024Article
- Dietary intervention rescues a bone porosity phenotype in a murine model of Neurofibromatosis Type 1 (NF1).PloS one · 2024Article
- The skeletal muscle phenotype of children with Neurofibromatosis Type 1 - A clinical perspective.Journal of musculoskeletal & neuronal interactions · 2022Review
- Review
- Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1.Frontiers in neurology · 2021Review
- Cell autonomous requirement of neurofibromin (Nf1) for postnatal muscle hypertrophic growth and metabolic homeostasis.Journal of cachexia, sarcopenia and muscle · 2020Article
- Article
- Population structure, genetic diversity, and selective signature of Chaka sheep revealed by whole genome sequencing.BMC genomics · 2020Article
- Stable intronic sequence RNAs (sisRNAs) are selected regions in introns with distinct properties.BMC genomics · 2020Article
- Article
- Systematic Identification of Genes Regulating Muscle Stem Cell Self-Renewal and Differentiation.Methods in molecular biology (Clifton, N.J.) · 2017Article
- Transcriptome of the inner circular smooth muscle of the developing mouse intestine: Evidence for regulation of visceral smooth muscle genes by the hedgehog target gene, cJun.Developmental dynamics : an official publication of the American Association of Anatomists · 2016Article
- Multifocal Head and Neck Neurofibromas with Osseous Abnormalities and Muscular Hypoplasia in a Child with Neurofibromatosis: Type I.Case reports in radiology · 2016Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
Neurofibromatosis type 1 (NF1) is a multi-system disease caused by mutations in the NF1 gene encoding a Ras-GAP protein, neurofibromin, which negatively regulates Ras signaling. Besides neuroectodermal malformations and tumors, the skeletal system is often affected (e.g. scoliosis and long bone dysplasia) demonstrating the importance of neurofibromin for development and maintenance of the musculoskeletal system. Here, we focus on the role of neurofibromin in skeletal muscle development. Nf1 gene inactivation in the early limb bud mesenchyme using Prx1-cre (Nf1(Prx1)) resulted in muscle dystrophy characterized by fibrosis, reduced number of muscle fibers and reduced muscle force. This was caused by an early defect in myogenesis affecting the terminal differentiation of myoblasts between E12.5 and E14.5. In parallel, the muscle connective tissue cells exhibited increased proliferation at E14.5 and an increase in the amount of connective tissue as early as E16.5. These changes were accompanied by excessive mitogen-activated protein kinase pathway activation. Satellite cells isolated from Nf1(Prx1) mice showed normal self-renewal, but their differentiation was impaired as indicated by diminished myotube formation. Our results demonstrate a requirement of neurofibromin for muscle formation and maintenance. This previously unrecognized function of neurofibromin may contribute to the musculoskeletal problems in NF1 patients.
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Registered trials
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