ArticleScientific reports2017
Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- A fully human IgG1 antibody targeting connexin 32 extracellular domain blocks CMTX1 hemichannel dysfunction in an in vitro model.Cell communication and signaling : CCS · 2024Article
- Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.Brain : a journal of neurology · 2023Article
- The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.Brain : a journal of neurology · 2023Article
- Pharmacologic Targeting of the C-Terminus of Heat Shock Protein 90 Improves Neuromuscular Function in Animal Models of Charcot Marie Tooth X1 Disease.ACS pharmacology & translational science · 2023Article
- Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease.Frontiers in neuroscience · 2022Article
- Mechanisms and Treatments in Demyelinating CMT.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Cross-Sectional Study in a Large Cohort of Chinese Patients WithFrontiers in neurology · 2020Article
- The role of oligodendrocyte gap junctions in neuroinflammation.Channels (Austin, Tex.) · 2019Review
- A network of chaperones prevents and detects failures in membrane protein lipid bilayer integration.Nature communications · 2019Article
- A Novel Variant in Non-coding Region ofFrontiers in neurology · 2019Article
- Acetylation of C-terminal lysines modulates protein turnover and stability of Connexin-32.BMC cell biology · 2018Article
- What's the Function of Connexin 32 in the Peripheral Nervous System?Frontiers in molecular neuroscience · 2018Review
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
CMT1X, an X-linked inherited neuropathy, is caused by mutations in GJB1, which codes for Cx32, a gap junction protein expressed by Schwann cells and oligodendrocytes. Many GJB1 mutations cause central nervous system (CNS) abnormality in males, including stable subclinical signs and, less often, short-duration episodes characterized by motor difficulties and altered consciousness. However, some mutations have no apparent CNS effects. What distinguishes mutations with and without CNS manifestations has been unclear. Here we studied a total of 14 Cx32 mutations, 10 of which are associated with florid episodic CNS clinical syndromes in addition to peripheral neuropathy. The other 4 mutations exhibit neuropathy without clinical or subclinical CNS abnormalities. These "PNS-only" mutations (Y151C, V181M, R183C and L239I) form gap junction plaques and produce levels of junctional coupling similar to those for wild-type Cx32. In contrast, mutants with CNS manifestations (F51L, E102del, V139M, R142Q, R142W, R164W T55I, R164Q and C168Y) either form no morphological gap junction plaques or, if they do, produce little or no detectable junctional coupling. Thus, PNS and CNS abnormalities may involve different aspects of connexin function.
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