ArticleBrain : a journal of neurology2011
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Article in Brain : a journal of neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27 citing papers in PubMed, 71 citations in OpenAlex.
- Phenotype-specific muscle proteomic profiling in titinopathies.Acta neuropathologica communications · 2026Article
- Satellite Glial Cells Control Sensory Neuron Excitability via the Release of Fibulin-2.bioRxiv : the preprint server for biology · 2026Article
- Common and rare variant genetic contributions in African Americans with autism.medRxiv : the preprint server for health sciences · 2025Article
- Cancer-associated fibroblast-derived fibulin-5 promotes epithelial-mesenchymal transition in diffuse-type gastric cancer via cAMP response element-binding protein pathway, showing poor prognosis.Experimental & molecular medicine · 2025Article
- ProteinMolecules (Basel, Switzerland) · 2025Review
- Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome.Bioscience reports · 2023Article
- Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.Brain : a journal of neurology · 2023Article
- Article
- Review
- Reconstructed glycosylase base editors GBE2.0 with enhanced C-to-G base editing efficiency and purity.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.Annals of clinical and translational neurology · 2022Article
- PAD2-mediated citrullination of Fibulin-5 promotes elastogenesis.Matrix biology : journal of the International Society for Matrix Biology · 2021Article
- New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa.Orphanet journal of rare diseases · 2021Article
- Targeted Gene Candidates for Treatment and Early Diagnosis of Age-Related Macular Degeneration.BioMed research international · 2021Article
- Fibulin 5, a human Wharton's jelly-derived mesenchymal stem cells-secreted paracrine factor, attenuates peripheral nervous system myelination defects through the Integrin-RAC1 signaling axis.Stem cells (Dayton, Ohio) · 2020Article
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- The role of adhesion protein Fibulin7 in development and diseases.Molecular medicine (Cambridge, Mass.) · 2020Review
- De novo variants in an extracellular matrix protein coding gene, fibulin-5 (FBLN5) are associated with pseudoexfoliation.European journal of human genetics : EJHG · 2019Article
- Proteome and Secretome Dynamics of Human Retinal Pigment Epithelium in Response to Reactive Oxygen Species.Scientific reports · 2019Article
- Genetic Predictors of Susceptibility to Dermatophytoses.Mycopathologia · 2017Article
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17 authors at 6 institutions in 5 countries.
Funding
Abstract
To identify the disease-causing gene responsible for an autosomal dominantly inherited Charcot-Marie-Tooth neuropathy subtype in a family excluded for mutations in the common Charcot-Marie-Tooth genes, we used array-based sequence capture to simultaneously analyse the disease-linked protein coding exome at chromosome 14q32. A missense mutation in fibulin-5, encoding a widely expressed constituent of the extracellular matrix that has an essential role in elastic fibre assembly and has been shown to cause cutis laxa, was detected as the only novel non-synonymous sequence variant within the disease interval. Screening of 112 index probands with unclassified Charcot-Marie-Tooth neuropathies detected two further fibulin-5 missense mutations in two families with Charcot-Marie-Tooth disease and hyperextensible skin. Since fibulin-5 mutations have been described in patients with age-related macular degeneration, an additional 300 probands with exudative age-related macular degeneration were included in this study. Two further fibulin-5 missense mutations were identified in six patients. A mild to severe peripheral neuropathy was detected in the majority of patients with age-related macular degeneration carrying mutations in fibulin-5. This study identifies fibulin-5 as a gene involved in Charcot-Marie-Tooth neuropathies and reveals heterozygous fibulin-5 mutations in 2% of our patients with age-related macular degeneration. Furthermore, it adumbrates a new syndrome by linking concurrent pathologic alterations affecting peripheral nerves, eyes and skin to mutations in the fibulin-5 gene.
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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.