Jennifer L Orthmann-Murphy
Affiliation: University of Pennsylvania
- Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like diseaseJennifer L Orthmann-Murphy
Department of Neurology, University of Pennsylvania School of Medicine, Room 464 Stemmler Hall, 3450 Hamilton Walk, Philadelphia, PA 19104 6077, USA
Mol Cell Neurosci 34:629-41. 2007..Thus, the Cx47 mutants associated with PMLD likely disrupt the gap junction coupling between astrocytes and oligodendrocytes...
- Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexinsJennifer L Orthmann-Murphy
Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6077, USA
J Neurosci 27:13949-57. 2007..Finally, Cx47 mutants that cause Pelizaeus-Merzbacher-like disease do not efficiently form functional channels with Cx43, indicating that disrupted Cx47/Cx43 channels cause this disease...
- Gap junctions couple astrocytes and oligodendrocytesJennifer L Orthmann-Murphy
Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
J Mol Neurosci 35:101-16. 2008..Mutations of these connexin genes demonstrate that the proper functioning of myelin and oligodendrocytes requires the expression of these connexins. The physiological function of O/A and A/A junctions, however, remains to be illuminated...
- Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutationsJennifer L Orthmann-Murphy
Department of Neurology, University of Pennsylvania School of Medicine, Room 464 Stemmler Hall, Philadelphia, PA 19104 6077, USA
Brain 132:426-38. 2009..Thus, GJA12/GJC2 mutations can result in a milder phenotype than previously appreciated, but whether I33M retains a function of Cx47 not directly related to forming functional gap junction channels is not known...
- How do Cx32 and Cx47 mutants cause CNS demyelination?JENNIFER ORTHMAN; Fiscal Year: 2007..This work should elucidate the molecular composition of gap junction channels that couple astrocytes and oligodendrocytes. [unreadable] [unreadable]..