Vitamin E deficiency and metabolic deficits in neuronal ceroid lipofuscinosis described by bioinformatics
نویسندگان
چکیده
J. L. GRIFFIN,1 D. MULLER,3 R. WOOGRASINGH,1 V. JOWATT,2 A. HINDMARSH,2 J. K. NICHOLSON,1 AND J. E. MARTIN2 1Biological Chemistry, Biomedical Sciences, Faculty of Medicine, Imperial College of Science, Technology and Medicine, London SW7 2AZ; 2Histopathology, Barts and the London, Queen Mary’s School of Medicine and Dentistry, The Royal London Hospital, Whitechapel, London E1 1BB; and 3Institute of Child Health, London WC1 N1EH, United Kingdom
منابع مشابه
Charting the effects of antioxidant therapy in the diseased brain: focus on "vitamin E deficiency and metabolic deficits in neuronal ceroid lipofuscinosis described by bioinformatics".
The mnd mouse, a model of neuronal ceroid lipofusinosis (NCL), has a profound vitamin E deficiency in sera and brain, associated with cerebral deterioration characteristic of NCL. In this study, the vitamin E deficiency is corrected using dietary supplementation. However, the histopathological features associated with NCL remained. With use of a bioinformatics approach based on high-resolution ...
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Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is a neurodegenerative lysosomal storage disease caused by a deficiency in palmitoyl protein thioesterase-1 (PPT1). The PPT1-deficient mouse (Cln1(-/-)) is a useful phenocopy of human INCL. Cln1(-/-) mice display retinal dysfunction, seizures, motor deficits, and die at ~8 months of age. However, little is known about the...
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The palmitoyl protein thioesterase-2 (PPT2) gene encodes a lysosomal thioesterase homologous to PPT1, which is the enzyme defective in the human disorder called infantile neuronal ceroid lipofuscinosis. In this article, we report that PPT2 deficiency in mice causes an unusual form of neuronal ceroid lipofuscinosis with striking visceral manifestations. All PPT2-deficient mice displayed a neurod...
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