(Press-News.org) Researchers untangle molecular pathology of giant axonal neuropathy
Giant axonal neuropathy (GAN) is a rare genetic disorder that causes central and peripheral nervous system dysfunction. GAN is known to be caused by mutations in the gigaxonin gene and is characterized by tangling and aggregation of neural projections, but the mechanistic link between the genetic mutation and the effects on neurons is unclear. In this issue of the Journal of Clinical Investigation, Robert Goldman and colleagues at Northwestern University uncover how mutations in gigaxonin contribute to neural aggregation.They demonstrated that gigaxonin regulates the degradation of neurofilament proteins, which help to guide outgrowth and morphology of neural projections. Loss of gigaxonin in either GAN patient cells or transgenic mice increased levels of neurofilament proteins, causing tangling and aggregation of neural projections. Importantly, expression of gigaxonin allowed for clearance of neurofilament proteins in neurons. These findings demonstrate that mutations in gigaxonin cause accumulation of neurofilament proteins and shed light on the molecular pathology of GAN.
TITLE: Giant axonal neuropathy-assoicated gigaxonin mutations impair intermediate filament protein degradation
AUTHOR CONTACT:
Robert Goldman
Northwestern University Medical School, Chicago, IL, USA
Phone: 312-503-4215; E-mail: r-goldman@northwestern.edu
View this article at: http://www.jci.org/articles/view/66387?key=fbb27aa987681b6b9d6a
Resistance is futile: researchers identify gene that mediates cisplatin resistance in ovarian cancer
Platinum compounds, such as cisplatin and carboplatin, induce DNA cross-linking, prohibiting DNA synthesis and repair in rapidly dividing cells. They are first line therapeutics in the treatment of many solid tumors, but cancer cells frequently develop resistance to these drugs. Mechanisms of resistance typically include reduced platinum uptake and increased platinum export. In this issue of the Journal of Clinical Investigation, Anil Sood and colleagues at M.D. Anderson Cancer Center identified a cellular membrane protein, ATP11B, that mediates cisplatin resistance in ovarian cancer cells. They found that ATP11B expression was correlated with higher tumor grade in human ovarian cancer samples and with cisplatin-resistance in human ovarian cancer cell lines. Further, loss of ATP11B restored the sensitivity of ovarian cancer cell lines to cisplatin and reduced ovarian tumor growth in mice. These findings suggest that ATP11B could serve as a therapeutic target to overcome cisplatin resistance.
TITLE: ATP11B mediates platinum resistance in ovarian cancer
AUTHOR CONTACT:
Anil Sood
M. D. Anderson Cancer Center, Houston, TX, USA
Phone: 713-745-5266; Fax: 713-792-7586; E-mail: asood@mdanderson.org
View this article at: http://www.jci.org/articles/view/65425?key=1b568a84b2ed6f3104ee
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Xiaozhong Peng
Institute of Basic Medical Sciences & School of Basic Medicine,Chinese Acad, Beijing, CHN
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View this article at: http://www.jci.org/articles/view/61820?key=1198455a7ca0e03c53ba
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AUTHOR CONTACT:
Anne Sperling
University of Chicago, Chicago, IL, USA
Phone: 773-834-1211; Fax: 773-702-4736; E-mail: asperlin@uchicago.edu
View this article at: http://www.jci.org/articles/view/63802?key=032761d160603a5e9093
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Xue-Jun Song
Parker University Research Institue, Dallas, , USA
Phone: 9734386932 EXT 7144
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Cynthia E. Dunbar
NIH, National Heart, Lung and Blood Institute, Bethesda, MD, USA
Phone: 301 496 1434; Fax: 301-496-8396
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AUTHOR CONTACT:
Ellen Robey
University of California, Berkeley, Berkeley, CA, USA
Phone: 510-642-8669
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Union Hospital, Tongji Medical College, Huazhong University of Science and, Wuhan, CHN
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AUTHOR CONTACT:
Douglas Graham
Univ of Colorado Anschutz Medical Campus, Aurora, CO, USA
Phone: 303-724-4006; Fax: 303-724-4015; E-mail: doug.graham@ucdenver.edu
View this article at: http://www.jci.org/articles/view/67816?key=c3beb1f407a41392c648
INFORMATION:
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Giant axonal neuropathy (GAN) is a rare genetic disorder that causes central and peripheral nervous system dysfunction. GAN is known to be caused by mutations in the gigaxonin gene and is characterized by tangling and aggregation of neural projections, but the mechanistic link between the genetic mutation and the effects on neurons is unclear. In this issue of the Journal of Clinical Investigation, Robert Goldman and colleagues at Northwestern University uncover how mutations in gigaxonin contribute to neural aggregation.They demonstrated that gigaxonin regulates the degradation ...
Platinum compounds, such as cisplatin and carboplatin, induce DNA cross-linking, prohibiting DNA synthesis and repair in rapidly dividing cells. They are first line therapeutics in the treatment of many solid tumors, but cancer cells frequently develop resistance to these drugs. Mechanisms of resistance typically include reduced platinum uptake and increased platinum export. In this issue of the Journal of Clinical Investigation, Anil Sood and colleagues at M.D. Anderson Cancer Center identified a cellular membrane protein, ATP11B, that mediates cisplatin resistance in ...
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This press release is available in German.
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