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The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

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Results: 1 to 6 of 6

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Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.
Kaneb HM, Folkmann AW, Belzil VV, Jao LE, Leblond CS, Girard SL, Daoud H, Noreau A, Rochefort D, Hince P, Szuto A, Levert A, Vidal S, André-Guimont C, Camu W, Bouchard JP, Dupré N, Rouleau GA, Wente SR, Dion PA
(2015) Hum Mol Genet 24: 1363-73
MeSH Terms: Amyotrophic Lateral Sclerosis, Animals, Arthrogryposis, Codon, Nonsense, DNA-Binding Proteins, Disease Models, Animal, Haploinsufficiency, HeLa Cells, Humans, Microscopy, Confocal, Motor Neurons, Mutation, Missense, Nuclear Pore, Nucleocytoplasmic Transport Proteins, Pedigree, Protein Processing, Post-Translational, RNA Splicing, RNA, Messenger, Zebrafish
Added February 19, 2015
0 Communities
1 Members
0 Resources
19 MeSH Terms
Abnormal junctions and permeability of myelin in PMP22-deficient nerves.
Guo J, Wang L, Zhang Y, Wu J, Arpag S, Hu B, Imhof BA, Tian X, Carter BD, Suter U, Li J
(2014) Ann Neurol 75: 255-65
MeSH Terms: Action Potentials, Age Factors, Animals, Arthrogryposis, Axons, Disease Models, Animal, Gene Expression Regulation, HEK293 Cells, Hereditary Sensory and Motor Neuropathy, Humans, Junctional Adhesion Molecules, Mice, Mice, Transgenic, Mutation, Myelin Proteins, Myelin Sheath, Neural Conduction, Peripheral Nerves, Potassium, Tight Junction Proteins, Tight Junctions
Added March 17, 2014
0 Communities
2 Members
0 Resources
21 MeSH Terms
Insights into mRNA export-linked molecular mechanisms of human disease through a Gle1 structure-function analysis.
Folkmann AW, Dawson TR, Wente SR
(2014) Adv Biol Regul 54: 74-91
MeSH Terms: Animals, Arthrogryposis, Cell Nucleus, Humans, Motor Neuron Disease, Nucleocytoplasmic Transport Proteins, RNA Transport, RNA, Messenger
Added March 21, 2014
0 Communities
1 Members
0 Resources
8 MeSH Terms
Gle1 functions during mRNA export in an oligomeric complex that is altered in human disease.
Folkmann AW, Collier SE, Zhan X, Aditi , Ohi MD, Wente SR
(2013) Cell 155: 582-93
MeSH Terms: Active Transport, Cell Nucleus, Arthrogryposis, HeLa Cells, Humans, Mutation, Nuclear Pore, Nucleocytoplasmic Transport Proteins, RNA, Messenger, Saccharomyces cerevisiae
Added March 7, 2014
0 Communities
3 Members
0 Resources
9 MeSH Terms
A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization.
Jao LE, Appel B, Wente SR
(2012) Development 139: 1316-26
MeSH Terms: Animals, Apoptosis, Arthrogryposis, Cell Nucleus, Disease Models, Animal, Gene Expression Regulation, Developmental, Genotype, Humans, Models, Genetic, Mutation, Neurons, Nucleocytoplasmic Transport Proteins, Phenotype, Plasmids, RNA, Messenger, RNA-Binding Proteins, Zebrafish, Zebrafish Proteins
Added March 21, 2014
0 Communities
1 Members
0 Resources
18 MeSH Terms
Arthrogryposis multiplex congenita with posterior column degeneration and peripheral neuropathy: a case report.
Folkerth RD, Guttentag SH, Kupsky WJ, Kinney HC
(1993) Clin Neuropathol 12: 25-33
MeSH Terms: Arthrogryposis, Axons, Biopsy, Brain, Humans, Infant, Joints, Kinesthesis, Male, Muscles, Myelin Sheath, Nerve Degeneration, Peripheral Nervous System Diseases, Sensory Receptor Cells, Spinal Cord, Sural Nerve
Added January 20, 2015
0 Communities
1 Members
0 Resources
16 MeSH Terms