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2 documents found
1: Title: Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration.
Authors: Zhao, Lihong, et.al. .
Journal: Proceedings of the National Academy of Sciences of the United States of America (Proc Natl Acad Sci U S A), Vol. 112 (42): 12962-7, 2015 .
Snippet: Here we report the identification of an Sptssb mutation, Stellar (Stl), which increased the SPT affinity toward the C18 fatty acyl-CoA substrate by twofold and significantly elevated 20-carbon (C20) LCB production in the mutant mouse brain and eye, resulting in surprising neurodegenerative effects including aberrant membrane structures, accumulation of ubiquitinated proteins on membranes, and axon degeneration.
Affiliation: The Jackson Laboratory, Bar Harbor, ME 04609; lihong.zhao@jax.org patsy.nishina@jax.org. Department of Medicine, Medical University of South Carolina, Charleston, SC 29425; Department of Biochemistry and Molecular Biology, Uniformed Services University of the Health Sciences, Bethesda, MD 20814; The Jackson Laboratory, Bar Harbor, ME 04609; Department of Biochemistry and Molecular Biology, Medical University of South Carolina, Charleston, SC 29425; Stony Brook Cancer Center, Health Science Center, Stony Brook University, Stony Brook, NY 11794. .
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2: Title: Molecular cloning and characterization of a novel androgen repressible gene expressed in the prostate epithelium.
Authors: Singh, Jaskirat, et.al. .
Journal: Gene, Vol. 348, 2005 .
Snippet: ADMP (androgen down regulated gene expressed in mouse prostate) expression appears to be androgen-dependent in the kidney and brain of normal intact mouse suggesting tissue specific regulation by androgens.
Affiliation: Department of Medicine and Sydney Cancer Centre, Royal Prince Alfred Hospital, University of Sydney, Sydney, NSW 2006, Australia. jas@med.usyd.edu.au .
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