Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects.
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Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutantsGap junctions in inherited human disorders of the central nervous system.Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked diseaseConnexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defectsCamKII inhibitors reduce mitotic instability, connexon anomalies and progression of the in vivo behavioral phenotype in transgenic animals expressing a mutated Gjb1 gene.X-linked Charcot-Marie-Tooth disease and connexin32.Characterization of targeted connexin32-deficient mice: a model for the human Charcot-Marie-Tooth (X-type) inherited disease.Reversal of the gating polarity of gap junctions by negative charge substitutions in the N-terminus of connexin 32The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins.Inherited deafness in childhood--the genetic revolution unmasks the clinical challenge.Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.Connexinopathies: a structural and functional glimpseAberrant trafficking of a Leu89Pro connexin32 mutant associated with X-linked dominant Charcot-Marie-Tooth disease.How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?Gap Junctions and Biophysical Regulation of Bone CellsExome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).Gap junctions in inherited human disease.GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.Intraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease.The detection of hamster connexins: a comparison of expression profiles with wild-type mouse and the cancer-prone Min mouse.Animal models for inherited peripheral neuropathies.Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.Targeting motifs and functional parameters governing the assembly of connexins into gap junctions.Growth control of 3T3 fibroblast cell lines established from connexin 43-deficient mice.Induction of a bystander effect in HeLa cells by using a bigenic vector carrying viral thymidine kinase and connexin32 genes.Cellular mechanisms of connexin32 mutations associated with CNS manifestations.Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability.Cx32 hemichannel opening by cytosolic Ca2+ is inhibited by the R220X mutation that causes Charcot-Marie-Tooth disease.Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease.Connexin32-null mice develop demyelinating peripheral neuropathy.From neuro-glue ('Nervenkitt') to glia: a prologue.Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts.Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.Cytoplasmic accumulation of connexin32 protein enhances motility and metastatic ability of human hepatoma cells in vitro and in vivo.Mutated connexin43 proteins inhibit rat glioma cell growth suppression mediated by wild-type connexin43 in a dominant-negative manner.Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression.What's the Function of Connexin 32 in the Peripheral Nervous System?
P2860
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P2860
Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Connexin 32 mutations from X-l ...... and dominant negative effects.
@en
type
label
Connexin 32 mutations from X-l ...... and dominant negative effects.
@en
prefLabel
Connexin 32 mutations from X-l ...... and dominant negative effects.
@en
P2093
P2860
P356
P1476
Connexin 32 mutations from X-l ...... and dominant negative effects.
@en
P2093
P2860
P304
P356
10.1091/MBC.7.6.907
P577
1996-06-01T00:00:00Z