ArticleNature neuroscience2013
Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy.
Article in Nature neuroscience, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 57 citations in OpenAlex.
- Myelin Dynamics at the Axon-Oligodendrocyte Interface: Adaptive Conduction Homeostasis in Demyelination, Remyelination and White Matter Repair.International journal of molecular sciences · 2026Review
- Dietary folic acid prevents peripheral neuropathy in mouse models of neural tube defects and type 2 diabetes.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Deletion of Nf2 in neural crest-derived tongue mesenchyme alters tongue shape and size, Hippo signalling and cell proliferation in a region- and stage-specific manner.Cell proliferation · 2021Article
- PLPP/CIN-mediated NF2-serine 10 dephosphorylation regulates F-actin stability and Mdm2 degradation in an activity-dependent manner.Cell death & disease · 2021Article
- NEDD4L-mediated Merlin ubiquitination facilitates Hippo pathway activation.EMBO reports · 2020Article
- The Neurofibromatoses.Deutsches Arzteblatt international · 2020Review
- A Functional Interaction Between Na,K-ATPase βMolecular neurobiology · 2019Article
- Phosphorylation of Merlin by Aurora A kinase appears necessary for mitotic progression.The Journal of biological chemistry · 2019Article
- Low availability of cholineFASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.American journal of medical genetics. Part A · 2019Article
- Nf2 Mutation in Schwann Cells Delays Functional Neural Recovery Following Injury.Neuroscience · 2018Article
- Article
- [Hereditary tumor syndromes in neuropathology].Der Pathologe · 2017Review
- Merlin controls the repair capacity of Schwann cells after injury by regulating Hippo/YAP activity.The Journal of cell biology · 2017Article
- Article
- CPI-17 drives oncogenic Ras signaling in human melanomas via Ezrin-Radixin-Moesin family proteins.Oncotarget · 2016Article
- Role of tau in the spatial organization of axonal microtubules: keeping parallel microtubules evenly distributed despite macromolecular crowding.Cellular and molecular life sciences : CMLS · 2016Article
- The importance of nerve microenvironment for schwannoma development.Acta neuropathologica · 2016Article
- Role of Merlin/NF2 inactivation in tumor biology.Oncogene · 2016Review
- Neuron-Specific Deletion of the Nf2 Tumor Suppressor Impairs Functional Nerve Regeneration.PloS one · 2016Article
Corrections and comments
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Authors and funding
18 authors at 11 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The autosomal dominant disorder neurofibromatosis type 2 (NF2) is a hereditary tumor syndrome caused by inactivation of the NF2 tumor suppressor gene, encoding merlin. Apart from tumors affecting the peripheral and central nervous systems, most NF2 patients develop peripheral neuropathies. This peripheral nerve disease can occur in the absence of nerve-damaging tumors, suggesting an etiology that is independent of gross tumor burden. We discovered that merlin isoform 2 (merlin-iso2) has a specific function in maintaining axonal integrity and propose that reduced axonal NF2 gene dosage leads to NF2-associated polyneuropathy. We identified a merlin-iso2-dependent complex that promotes activation of the GTPase RhoA, enabling downstream Rho-associated kinase to promote neurofilament heavy chain phosphorylation. Merlin-iso2-deficient mice exhibited impaired locomotor capacities, delayed sensory reactions and electrophysiological signs of axonal neuropathy. Sciatic nerves from these mice and sural nerve biopsies from NF2 patients revealed reduced phosphorylation of the neurofilament H subunit, decreased interfilament spacings and irregularly shaped axons.
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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.