Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease

scientific article

Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease is …
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scholarly articleQ13442814

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P356DOI10.1016/J.MCN.2007.01.010
P3181OpenCitations bibliographic resource ID3758324
P932PMC publication ID1937038
P698PubMed publication ID17344063
P5875ResearchGate publication ID6462908

P50authorCharles K. AbramsQ87969760
Steven S. SchererQ109937193
P2093author name stringJennifer L Orthmann-Murphy
Alan D Enriquez
P2860cites workConnexin mutations in X-linked Charcot-Marie-Tooth diseaseQ24323296
Identification of novel stress-induced genes downstream of chopQ24533261
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like diseaseQ24534074
Brefeldin A: insights into the control of membrane traffic and organelle structureQ24643698
Cell-specific expression of connexins and evidence of restricted gap junctional coupling between glial cells and between neuronsQ24669745
Connexin-47 and connexin-32 in gap junctions of oligodendrocyte somata, myelin sheaths, paranodal loops and Schmidt-Lanterman incisures: implications for ionic homeostasis and potassium siphoningQ24674144
The scanning model for translation: an updateQ24679648
The molecular pathogenesis of Pelizaeus-Merzbacher diseaseQ28145853
Multimeric connexin interactions prior to the trans-Golgi networkQ28210082
Functional studies of human skin disease- and deafness-associated connexin 30 mutationsQ28213840
Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutationsQ28217080
Functional expression of the new gap junction gene connexin47 transcribed in mouse brain and spinal cord neuronsQ28346574
CHOP is implicated in programmed cell death in response to impaired function of the endoplasmic reticulumQ28509611
Connexin30 in rodent, cat and human brain: selective expression in gray matter astrocytes, co-localization with connexin43 at gap junctions and late developmental appearanceQ28576578
Interpreting cDNA sequences: some insights from studies on translationQ30004215
Coupling of astrocyte connexins Cx26, Cx30, Cx43 to oligodendrocyte Cx29, Cx32, Cx47: Implications from normal and connexin32 knockout miceQ30499066
Connexin47, connexin29 and connexin32 co-expression in oligodendrocytes and Cx47 association with zonula occludens-1 (ZO-1) in mouse brainQ30499651
Genetic diseases and gene knockouts reveal diverse connexin functions.Q33547231
Monogenic traits are not simple: lessons from phenylketonuriaQ33677027
Gap junctions and the regulation of cellular functions of stem cells during development and differentiationQ33835826
Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease.Q33933163
Structural and functional diversity of connexin genes in the mouse and human genomeQ34137753
Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems.Q34142186
Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS.Q34205721
Connexins are critical for normal myelination in the CNS.Q34211666
Multisubunit assembly of an integral plasma membrane channel protein, gap junction connexin43, occurs after exit from the ERQ34306752
Differential expression of three gap junction proteins in developing and mature brain tissuesQ34327171
Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytesQ34338568
Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteinsQ34719366
Connexin32-containing gap junctions in Schwann cells at the internodal zone of partial myelin compaction and in Schmidt-Lanterman incisuresQ35648025
Age-related molecular reorganization at the node of RanvierQ35648729
Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32Q35885518
The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease.Q36155932
Minimal role for caspase 12 in the unfolded protein response in oligodendrocytes in vivo.Q36165371
Functional gap junctions in the schwann cell myelin sheathQ36255671
The unfolded protein response: a stress signaling pathway critical for health and disease.Q36375860
Biochemical analysis of connexin43 intracellular transport, phosphorylation, and assembly into gap junctional plaquesQ36530637
Grid-mapped freeze-fracture analysis of gap junctions in gray and white matter of adult rat central nervous system, with evidence for a "panglial syncytium" that is not coupled to neuronsQ36890982
An aberrant sequence in a connexin46 mutant underlies congenital cataracts.Q37288625
Functional study of GJB2 in hereditary hearing lossQ38521949
Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cellsQ40328505
Loss of electrical communication, but not plaque formation, after mutations in the cytoplasmic loop of connexin43.Q40430830
Transport and function of cx26 mutants involved in skin and deafness disorders.Q40542422
Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutationsQ40587065
Loss of function and impaired degradation of a cataract-associated mutant connexin50.Q40640625
The gap junction communication channelQ40974984
Connections with connexins: the molecular basis of direct intercellular signalingQ41006464
Structure of gap junction intercellular channelsQ41052924
Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cellsQ41665390
Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function.Q42050108
Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamicsQ42576797
Scrape-loading and dye transfer. A rapid and simple technique to study gap junctional intercellular communicationQ43521106
Cellular mechanisms of connexin32 mutations associated with CNS manifestationsQ44059866
Immunohistochemical localization of aspartoacylase in the rat central nervous systemQ44830875
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activityQ44948884
Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing lossQ46754594
Four classes of intercellular channels between glial cells in the CNS.Q47643765
Connexin32-null mice develop demyelinating peripheral neuropathyQ47700279
Molecular cloning and functional expression of mouse connexin-30,a gap junction gene highly expressed in adult brain and skinQ48062027
The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problemQ48122134
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathyQ48535446
Oligodendrocytes express gap junction proteins connexin32 and connexin45.Q48698685
On the organization of astrocytic gap junctions in rat brain as suggested by LM and EM immunohistochemistry of connexin43 expressionQ48833124
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafnessQ48840496
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiationQ48881472
Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells.Q50471423
Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.Q50472103
Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.Q50474925
Cellular mechanisms of mutant connexins in skin disease and hearing loss.Q50481633
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.Q50484268
Hearing loss: frequency and functional studies of the most common connexin26 alleles.Q50486953
Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.Q50774956
Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43.Q50781208
Activation of an unfolded protein response during differentiation of antibody-secreting B cells.Q52113898
Myelination defects and neuronal hyperexcitability in the neocortex of connexin 32-deficient mice.Q54043555
Transport and Function of Cx26 Mutants Involved in Skin and Deafness DisordersQ57962404
Connexin-43 in rat spinal cord: localization in astrocytes and identification of heterotypic astro-oligodendrocytic gap junctionsQ58493665
Functional Characterization of Connexin43 Mutations Found in Patients With Oculodentodigital DysplasiaQ59241289
Functional Characterization of aGJA1Frameshift Mutation Causing Oculodentodigital Dysplasia and Palmoplantar KeratodermaQ60585241
Electrical coupling, without dye coupling, between mammalian astrocytes and oligodendrocytes in cell cultureQ68427373
Cell junctions and intramembrane particles of astrocytes and oligodendrocytes: a freeze-fracture studyQ70354188
Connexin32 is a myelin-related protein in the PNS and CNSQ71038789
Unidirectional coupling of gap junctions between neurogliaQ72207291
Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafnessQ73168949
Altered trafficking of mutant connexin32Q73863874
Degradation of connexin43 gap junctions involves both the proteasome and the lysosomeQ73876395
Two distinct stress signaling pathways converge upon the CHOP promoter during the mammalian unfolded protein responseQ74359929
Diverse trafficking abnormalities of connexin32 mutants causing CMTXQ78597337
The COS-7 cell in vitro paradigm to study myelin proteolipid protein 1 gene mutationsQ78689495
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectcell biologyQ7141
gap junction channel activity involved in cell communication by electrical couplingQ21107044
Gap junction protein gamma 2Q21113168
Heat shock protein 90 beta family member 1Q21131370
P304page(s)629-41
P577publication date2007-04-01
P1433published inMolecular and Cellular NeuroscienceQ6895985
P1476titleLoss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease
P478volume34

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