Affiliation: The University of Tokushima
- Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouseJunko Matsuda
Department of Pediatrics, The Institute of Health Bioscience, The University of Tokushima Graduate School, 3 18 15, Kuramoto Cho, Tokushima 770 8503, Japan
Hum Mol Genet 13:2709-23. 2004..These results not only indicate the role of saposin D in in vivo ceramide metabolism, but also suggest possible cytotoxicity of ceramide underlying the cerebellar Purkinje cell and renal tubular cell degeneration...
- Genetic background markedly influences vulnerability of the hippocampal neuronal organization in the "twitcher" mouse model of globoid cell leukodystrophyKumiko Tominaga
Department of Pediatrics, University of Tokushima School of Medicine, Tokushima, Japan
J Neurosci Res 77:507-16. 2004..These findings also suggest an intriguing possibility of important function of some sphingolipids in the hippocampal neuronal organization and maintenance...
- Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding regionEtsuo Naito
Department of Pediatrics, School of Medicine, University of Tokushima, Kuramoto Cho 3, Tokushima, Japan
Biochim Biophys Acta 1588:79-84. 2002..The DNA sequence of these two male patients' X-linked E1alpha subunit revealed a point mutation (F205L and L216F) within the TPP-binding region in exon 7...
- Plasma adiponectin levels in newborns are higher than those in adults and positively correlated with birth weightYumiko Kotani
Department of Pediatrics, School of Medicine, University of Tokushima, 3 Kuramoto cho, Japan
Clin Endocrinol (Oxf) 61:418-23. 2004..The aim of this study was to examine plasma adiponectin concentrations during perinatal the period and their correlations with fetal anthropometric parameters and other hormones...
- Successful allogeneic unrelated bone marrow transplantation using reduced-intensity conditioning for the treatment of X-linked adrenoleukodystrophy in a one-yr-old boyKazumi Okamura
Department of Pediatrics, University of Tokushima Graduate School of Medical Science, Tokushima, Japan
Pediatr Transplant 13:130-3. 2009..RIST should be considered as a pretransplant conditioning for ALD...
- Comparative clinico-pathological study of saposin-A-deficient (SAP-A-/-) and Twitcher miceTakashi Yagi
Department of Pathology and Laboratory Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599 7525, USA
J Neuropathol Exp Neurol 63:721-34. 2004..These results suggest that peripheral macrophages are readily accessible in these sites and participate in the demyelinating process in the central nervous system...
- Seminolipid and its precursor/degradative product, galactosylalkylacylglycerol, in the testis of saposin A- and prosaposin-deficient miceKeiko Tadano-Aritomi
Department of Biochemistry, Teikyo University School of Medicine, Kaga 2 11 1, Itabashi ku, Tokyo 173 8605, Japan
J Lipid Res 44:1737-43. 2003..These analytical findings on the two saposin mutants may shed some light on the physiological function of seminolipid and GalEAG...
- Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin traffickingYing Sun
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
Hum Mol Genet 16:957-71. 2007..This CD null mouse model provides a tool to explore the in vivo functional interactions of saposins in GSL metabolism and lysosomal storage diseases, and prosaposin's physiological effects...
- Hematopoietic cell transplantation ameliorates clinical phenotype and progression of the CNS pathology in the mouse model of late onset Krabbe diseaseTakashi Yagi
Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA
J Neuropathol Exp Neurol 64:565-75. 2005..In contrast, the peripheral nerves showed features of hypertrophic neuropathy with hypomyelination and onion bulb formation, suggesting that there are different cellular responses to the BMT in the CNS and PNS...
- The function of sphingolipids in the nervous system: lessons learnt from mouse models of specific sphingolipid activator protein deficienciesJunko Matsuda
Institute of Glycotechnology, Future Science and Technology Joint Research Center, Tokai University, Hiratsuka, Japan
J Neurochem 103:32-8. 2007..Collectively, the information provides support for the potential importance of sphingolipids in the function of the nervous system...