Globoid cell leukodystrophy is a generalized galactosylsphingosine (psychosine) storage disease |
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| Authors: | T Kobayashi H Shinoda I Goto T Yamanaka Y Suzuki |
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| Affiliation: | 1. Department of Physiology, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran;2. Neuroscience Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran;3. Department of Brain and Cognitive Sciences, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran;1. Department of Physiology, Faculty of Medical Sciences, Tarbiat Modares University, P.O.Box:14115-331, Tehran, Iran;2. Department of Brain and Cognitive Sciences, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran |
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| Abstract: | Galactosylsphingosine (psychosine) in somatic organs from a patient with globoid cell leukodystrophy and from the twitcher mouse, an animal model of human globoid cell leukodystrophy was assayed. There was an abnormal accumulation of galactosylsphingosine as in nervous tissues, albeit the concentrations being lower than those in nervous tissues. Galactosylsphingosine accumulation in the kidney of the twitcher mouse increased with age. These findings indicate that globoid cell leukodystrophy is a generalized galactosylsphingosine storage disease. |
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