Connexin mutations in X-linked Charcot-Marie-Tooth disease
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Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levelsTwo novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth diseaseMutations in the human connexin gene GJB3 cause erythrokeratodermia variabilisConnexin46 mutations in autosomal dominant congenital cataract.Cowchock syndrome is associated with a mutation in apoptosis-inducing factorA missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1qMutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like diseaseA new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.Life cycle of connexins in health and diseaseThe effects of connexin phosphorylation on gap junctional communicationConnexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasiaMapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathiesHuman oligodendrocytes express Cx31.3: function and interactions with Cx32 mutantsConnexin29 expression, immunocytochemistry and freeze-fracture replica immunogold labelling (FRIL) in sciatic nerveConnexin-47 and connexin-32 in gap junctions of oligodendrocyte somata, myelin sheaths, paranodal loops and Schmidt-Lanterman incisures: implications for ionic homeostasis and potassium siphoning.Distinct claudins and associated PDZ proteins form different autotypic tight junctions in myelinating Schwann cellsA new locus for dominant "zonular pulverulent" cataract, on chromosome 13Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like diseaseDiseases associated with leaky hemichannelsGap junctions in inherited human disorders of the central nervous system.Charcot-Marie-Tooth disease and intracellular trafficWrecked regulation of intrinsically disordered proteins in diseases: pathogenicity of deregulated regulatorsSystemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease.Crystal structure of the extracellular domain of human myelin protein zeroRegulation of Connexins Expression Levels by MicroRNAs, an UpdateMyelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutationGJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairmentA fully atomistic model of the Cx32 connexonOpalin, a transmembrane sialylglycoprotein located in the central nervous system myelin paranodal loop membraneAltered expression and function of hepatocyte gap junctions after common bile duct ligation in the ratThe mouse gap junction gene connexin29 is highly expressed in sciatic nerve and regulated during brain developmentMembrane channel gene expression in human costal and articular chondrocytesAnalysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked diseaseDifferential expression of gap-junction gene connexin 31 in seminiferous epithelium of rat testesMissense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.Molecular disruptions of the panglial syncytium block potassium siphoning and axonal saltatory conduction: pertinence to neuromyelitis optica and other demyelinating diseases of the central nervous system.
P2860
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P2860
Connexin mutations in X-linked Charcot-Marie-Tooth disease
description
1993 nî lūn-bûn
@nan
1993 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Connexin mutations in X-linked Charcot-Marie-Tooth disease
@ast
Connexin mutations in X-linked Charcot-Marie-Tooth disease
@en
Connexin mutations in X-linked Charcot-Marie-Tooth disease
@en-gb
Connexin mutations in X-linked Charcot-Marie-Tooth disease
@nl
type
label
Connexin mutations in X-linked Charcot-Marie-Tooth disease
@ast
Connexin mutations in X-linked Charcot-Marie-Tooth disease
@en
Connexin mutations in X-linked Charcot-Marie-Tooth disease
@en-gb
Connexin mutations in X-linked Charcot-Marie-Tooth disease
@nl
prefLabel
Connexin mutations in X-linked Charcot-Marie-Tooth disease
@ast
Connexin mutations in X-linked Charcot-Marie-Tooth disease
@en
Connexin mutations in X-linked Charcot-Marie-Tooth disease
@en-gb
Connexin mutations in X-linked Charcot-Marie-Tooth disease
@nl
P2093
P3181
P356
P1433
P1476
Connexin mutations in X-linked Charcot-Marie-Tooth disease
@en
P2093
J Bergoffen
K H Fischbeck
M W Lensch
P F Chance
S S Scherer
P304
P3181
P356
10.1126/SCIENCE.8266101
P407
P577
1993-12-24T00:00:00Z