scholarly article | Q13442814 |
P50 | author | Charles K. Abrams | Q87969760 |
Steven S. Scherer | Q109937193 | ||
P2093 | author name string | Jennifer L Orthmann-Murphy | |
Alan D Enriquez | |||
P2860 | cites work | Connexin mutations in X-linked Charcot-Marie-Tooth disease | Q24323296 |
Identification of novel stress-induced genes downstream of chop | Q24533261 | ||
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease | Q24534074 | ||
Brefeldin A: insights into the control of membrane traffic and organelle structure | Q24643698 | ||
Cell-specific expression of connexins and evidence of restricted gap junctional coupling between glial cells and between neurons | Q24669745 | ||
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 siphoning | Q24674144 | ||
The scanning model for translation: an update | Q24679648 | ||
The molecular pathogenesis of Pelizaeus-Merzbacher disease | Q28145853 | ||
Multimeric connexin interactions prior to the trans-Golgi network | Q28210082 | ||
Functional studies of human skin disease- and deafness-associated connexin 30 mutations | Q28213840 | ||
Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations | Q28217080 | ||
Functional expression of the new gap junction gene connexin47 transcribed in mouse brain and spinal cord neurons | Q28346574 | ||
CHOP is implicated in programmed cell death in response to impaired function of the endoplasmic reticulum | Q28509611 | ||
Connexin30 in rodent, cat and human brain: selective expression in gray matter astrocytes, co-localization with connexin43 at gap junctions and late developmental appearance | Q28576578 | ||
Interpreting cDNA sequences: some insights from studies on translation | Q30004215 | ||
Coupling of astrocyte connexins Cx26, Cx30, Cx43 to oligodendrocyte Cx29, Cx32, Cx47: Implications from normal and connexin32 knockout mice | Q30499066 | ||
Connexin47, connexin29 and connexin32 co-expression in oligodendrocytes and Cx47 association with zonula occludens-1 (ZO-1) in mouse brain | Q30499651 | ||
Genetic diseases and gene knockouts reveal diverse connexin functions. | Q33547231 | ||
Monogenic traits are not simple: lessons from phenylketonuria | Q33677027 | ||
Gap junctions and the regulation of cellular functions of stem cells during development and differentiation | Q33835826 | ||
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 genome | Q34137753 | ||
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 ER | Q34306752 | ||
Differential expression of three gap junction proteins in developing and mature brain tissues | Q34327171 | ||
Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes | Q34338568 | ||
Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins | Q34719366 | ||
Connexin32-containing gap junctions in Schwann cells at the internodal zone of partial myelin compaction and in Schmidt-Lanterman incisures | Q35648025 | ||
Age-related molecular reorganization at the node of Ranvier | Q35648729 | ||
Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32 | Q35885518 | ||
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 sheath | Q36255671 | ||
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 plaques | Q36530637 | ||
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 neurons | Q36890982 | ||
An aberrant sequence in a connexin46 mutant underlies congenital cataracts. | Q37288625 | ||
Functional study of GJB2 in hereditary hearing loss | Q38521949 | ||
Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells | Q40328505 | ||
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 mutations | Q40587065 | ||
Loss of function and impaired degradation of a cataract-associated mutant connexin50. | Q40640625 | ||
The gap junction communication channel | Q40974984 | ||
Connections with connexins: the molecular basis of direct intercellular signaling | Q41006464 | ||
Structure of gap junction intercellular channels | Q41052924 | ||
Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells | Q41665390 | ||
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 dynamics | Q42576797 | ||
Scrape-loading and dye transfer. A rapid and simple technique to study gap junctional intercellular communication | Q43521106 | ||
Cellular mechanisms of connexin32 mutations associated with CNS manifestations | Q44059866 | ||
Immunohistochemical localization of aspartoacylase in the rat central nervous system | Q44830875 | ||
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity | Q44948884 | ||
Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss | Q46754594 | ||
Four classes of intercellular channels between glial cells in the CNS. | Q47643765 | ||
Connexin32-null mice develop demyelinating peripheral neuropathy | Q47700279 | ||
Molecular cloning and functional expression of mouse connexin-30,a gap junction gene highly expressed in adult brain and skin | Q48062027 | ||
The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem | Q48122134 | ||
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy | Q48535446 | ||
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 expression | Q48833124 | ||
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness | Q48840496 | ||
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation | Q48881472 | ||
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 Disorders | Q57962404 | ||
Connexin-43 in rat spinal cord: localization in astrocytes and identification of heterotypic astro-oligodendrocytic gap junctions | Q58493665 | ||
Functional Characterization of Connexin43 Mutations Found in Patients With Oculodentodigital Dysplasia | Q59241289 | ||
Functional Characterization of aGJA1Frameshift Mutation Causing Oculodentodigital Dysplasia and Palmoplantar Keratoderma | Q60585241 | ||
Electrical coupling, without dye coupling, between mammalian astrocytes and oligodendrocytes in cell culture | Q68427373 | ||
Cell junctions and intramembrane particles of astrocytes and oligodendrocytes: a freeze-fracture study | Q70354188 | ||
Connexin32 is a myelin-related protein in the PNS and CNS | Q71038789 | ||
Unidirectional coupling of gap junctions between neuroglia | Q72207291 | ||
Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness | Q73168949 | ||
Altered trafficking of mutant connexin32 | Q73863874 | ||
Degradation of connexin43 gap junctions involves both the proteasome and the lysosome | Q73876395 | ||
Two distinct stress signaling pathways converge upon the CHOP promoter during the mammalian unfolded protein response | Q74359929 | ||
Diverse trafficking abnormalities of connexin32 mutants causing CMTX | Q78597337 | ||
The COS-7 cell in vitro paradigm to study myelin proteolipid protein 1 gene mutations | Q78689495 | ||
P433 | issue | 4 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | cell biology | Q7141 |
gap junction channel activity involved in cell communication by electrical coupling | Q21107044 | ||
Gap junction protein gamma 2 | Q21113168 | ||
Heat shock protein 90 beta family member 1 | Q21131370 | ||
P304 | page(s) | 629-41 | |
P577 | publication date | 2007-04-01 | |
P1433 | published in | Molecular and Cellular Neuroscience | Q6895985 |
P1476 | title | Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease | |
P478 | volume | 34 |
Q34994055 | A new mutation in GJC2 associated with subclinical leukodystrophy |
Q86930798 | A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32 |
Q30486564 | Ablation of Cx47 in transgenic mice leads to the loss of MUPP1, ZONAB and multiple connexins at oligodendrocyte-astrocyte gap junctions |
Q58493621 | Ablation of connexin30 in transgenic mice alters expression patterns of connexin26 and connexin32 in glial cells and leptomeninges |
Q90074195 | Astrocyte and Oligodendrocyte Cross-Talk in the Central Nervous System |
Q33897709 | Astrocyte heterogeneity across the brain and spinal cord occurs developmentally, in adulthood and in response to demyelination |
Q50567646 | Changes in object recognition and anxiety-like behaviour in mice expressing a Cx47 mutation that causes Pelizaeus-Merzbacher-like disease. |
Q37035773 | Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease |
Q21132530 | Connexin 43 astrocytopathy linked to rapidly progressive multiple sclerosis and neuromyelitis optica |
Q36763693 | Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment |
Q61806966 | Connexin and Pannexin-Based Channels in Oligodendrocytes: Implications in Brain Health and Disease |
Q34259105 | Connexin mutant embryonic stem cells and human diseases |
Q37116451 | Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner |
Q30485962 | Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects |
Q41011933 | Connexin43 and connexin47 alterations after neural precursor cells transplantation in experimental autoimmune encephalomyelitis. |
Q35584623 | Connexin: a potential novel target for protecting the central nervous system? |
Q42089141 | Cx29 and Cx32, two connexins expressed by myelinating glia, do not interact and are functionally distinct |
Q30449325 | Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling |
Q37332993 | Deletion of astrocyte connexins 43 and 30 leads to a dysmyelinating phenotype and hippocampal CA1 vacuolation. |
Q91137037 | Directional coupling of oligodendrocyte connexin-47 and astrocyte connexin-43 gap junctions |
Q83770907 | Disruption of oligodendrocyte gap junctions in experimental autoimmune encephalomyelitis |
Q42642715 | EKV mutant connexin 31 associated cell death is mediated by ER stress |
Q37193492 | ERp29 restricts Connexin43 oligomerization in the endoplasmic reticulum |
Q34478062 | Early disruption of glial communication via connexin gap junction in multiple sclerosis, Baló's disease and neuromyelitis optica |
Q37329514 | Endogenous nonneuronal modulators of synaptic transmission control cortical slow oscillations in vivo |
Q36497120 | Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form |
Q38179504 | Extracellular domains play different roles in gap junction formation and docking compatibility. |
Q21710710 | GJC2 missense mutations cause human lymphedema |
Q35760051 | Gap junction communication in myelinating glia |
Q48579102 | Gap junction pathology in multiple sclerosis lesions and normal-appearing white matter |
Q24645936 | Gap junctions couple astrocytes and oligodendrocytes |
Q37689002 | Gap junctions in inherited human disease |
Q26823332 | Gap junctions in inherited human disorders of the central nervous system |
Q40374604 | Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model. |
Q24654250 | Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations |
Q36368553 | How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease? |
Q24655300 | Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants |
Q27012678 | Hypomyelinating leukodystrophies: translational research progress and prospects |
Q38268356 | Mechanisms linking connexin mutations to human diseases |
Q34426537 | Mutations in cardiovascular connexin genes |
Q34137935 | Mutations in connexin genes and disease |
Q33877086 | New mutation of pelizaeus--merzbacher-like disease; a report from iran. |
Q33959224 | Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans |
Q55058393 | Pelizaeus-Merzbacher disease: cellular pathogenesis and pharmacologic therapy. |
Q48299744 | Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation |
Q41734605 | Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction |
Q37959793 | Role of gap junctions in epilepsy |
Q36784380 | Segregated Foxc2, NFATc1 and Connexin expression at normal developing venous valves, and Connexin-specific differences in the valve phenotypes of Cx37, Cx43, and Cx47 knockout mice |
Q27316720 | Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease |
Q52626070 | Targeting Gap Junctions: New Insights in the Treatment of Major Depressive Disorder. |
Q43640694 | The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions |
Q37165742 | The molecular and cellular defects underlying Pelizaeus-Merzbacher disease |
Q92975668 | The role of oligodendrocyte gap junctions in neuroinflammation |
Q52584179 | Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins. |
Q57814471 | Update on leukodystrophies |
Q33594651 | White matter astrocytes in health and disease |
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