ArticleAmerican journal of human genetics2000
Functional analysis of the neurofibromatosis type 2 protein by means of disease-causing point mutations.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 63 citations in OpenAlex.
- Interactions among Merlin, Arkadia, and SKOR2 mediate NF2-associated human Schwann cell proliferation.Stem cell research & therapy · 2025Article
- The molecular biology of NF2/Merlin on tumorigenesis and development.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024Review
- FERM domain-containing proteins are active components of the cell nucleus.Life science alliance · 2024Review
- Article
- The Regulation of the Hippo Pathway by Intercellular Junction Proteins.Life (Basel, Switzerland) · 2022Review
- Hippo in Gastric Cancer: From Signalling to Therapy.Cancers · 2022Review
- Re-evaluation of missense variant classifications in NF2.Human mutation · 2022Article
- Lipid binding promotes the open conformation and tumor-suppressive activity of neurofibromin 2.Nature communications · 2018Article
- Distinct overlapping sequences at the carboxy-terminus of merlin regulate its tumour suppressor and morphogenic activity.Journal of cellular and molecular medicine · 2012Article
- Unfurling of the band 4.1, ezrin, radixin, moesin (FERM) domain of the merlin tumor suppressor.Protein science : a publication of the Protein Society · 2011Article
- FERM domain phosphoinositide binding targets merlin to the membrane and is essential for its growth-suppressive function.Molecular and cellular biology · 2011Article
- A tight junction-associated Merlin-angiomotin complex mediates Merlin's regulation of mitogenic signaling and tumor suppressive functions.Cancer cell · 2011Article
- p21-Activated kinases are required for transformation in a cell-based model of neurofibromatosis type 2.PloS one · 2010Article
- Microtubule-mediated transport of the tumor-suppressor protein Merlin and its mutants.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
- Evaluation of NF2 gene deletion in sporadic schwannomas, meningiomas, and ependymomas by chromogenic in situ hybridization.Human pathology · 2007Article
- Expression of the cytoskeleton linker protein ezrin in human cancers.Clinical & experimental metastasis · 2007Article
- Evolution and origin of merlin, the product of the Neurofibromatosis type 2 (NF2) tumor-suppressor gene.BMC evolutionary biology · 2005Article
- Magicin, a novel cytoskeletal protein associates with the NF2 tumor suppressor merlin and Grb2.Oncogene · 2004Article
- Article
- Loss of heterozygosity on long arm of chromosome 22 in sporadic colorectal carcinoma.World journal of gastroenterology · 2002Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Despite intense study of the neurofibromatosis type 2 (NF2) tumor-suppressor protein merlin, the biological properties and tumor-suppressor functions of merlin are still largely unknown. In this study, we examined the molecular activities of NF2-causing mutant merlin proteins in transfected mammalian cells, to elucidate the merlin properties that are critical for tumor-suppressor function. Most important, we found that 80% of the merlin mutants studied significantly altered cell adhesion, causing cells to detach from the substratum. This finding implies a function for merlin in regulating cell-matrix attachment, and changes in cell adhesion caused by mutant protein expression may be an initial step in the pathogenesis of NF2. In addition, five different mutations in merlin caused a significant increase in detergent solubility of merlin compared to wild type, indicating a decreased ability to interact with the cytoskeleton. Although not correlated to the cell-adhesion phenotype, four missense mutations decreased the binding of merlin to the ERM-interacting protein EBP-50, implicating this interaction in merlin inhibition of cell growth. Last, we found that some NF2 point mutations in merlin most closely resembled gain-of-function alleles in their cellular phenotype, which suggests that mutant NF2 alleles may not always act in a loss-of-function manner, as had been assumed, but may include a spectrum of allelic types with different phenotypic effects on the function of the protein. In aggregate, these cellular phenotypes provide a useful assay for identifying the functional domains and molecular partners necessary for merlin tumor-suppressor activity.
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