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1.
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2024/05/15
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Promyelinating drugs ameliorate oligodendrocyte pathologies in a mouse model of Krabbe disease
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2.
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2024/05/13
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Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan
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3.
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2023/06/20
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Genetic ablation of Saposin-D in Krabbe disease eliminates psychosine accumulation but does not significantly improve demyelination
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4.
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2023/04/01
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Bifunctional DEGS2 has higher hydroxylase activity toward substrates with very-long-chain fatty acids in the production of phytosphingosine ceramides.
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5.
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2023/01/01
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Mass Spectrometry of Neutral Glycosphingolipids
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6.
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2022/12
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The Urinary Bladder is Rich in Glycosphingolipids Composed of Phytoceramides
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7.
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2021/05/24
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Involvement of acid ceramidase in the degradation of bioactive N-acylethanolamines.
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8.
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2021/05/12
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Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan
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9.
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2021/04/06
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Reduction in miR-219 expression underlies cellular pathogenesis of oligodendrocytes in a mouse model of Krabbe disease
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10.
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2020/06/25
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A Case of Adrenoleukodystrophy Diagnosed Based on Visual Disturbance
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11.
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2020
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Variants in saposin D domain of prosaposin gene linked to Parkinson's disease.
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12.
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2019/01
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Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure.
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13.
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2018
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Developmental defects and aberrant accumulation of endogenous psychosine in oligodendrocytes in a murine model of Krabbe disease.
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14.
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2017/01
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A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe
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15.
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2016/08
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Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia
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16.
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2015/06
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The effects of chemically synthesized saposin C on glucosylceramide-beta-glucosidase
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17.
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2014/07
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Mesotrypsin and caspase-14 participate in prosaposin processing: potential relevance to epidermal permeability barrier formation.
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18.
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2013/01
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Improved high-fat diet-induced glucose intolerance by an oral administration of phytosphingosine.
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19.
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2012/11
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Chemoenzymatic synthesis of hydrophobic glycoprotein: synthesis of saposin C carrying complex-type carbohydrate.
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20.
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2012/10
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Primary polydipsia, but not accumulated ceramide, causes lethal renal damage in saposin D-deficient mice.
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21.
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2012/04
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Endosomal sorting by Semaphorin 4A in retinal pigment epithelium supports photoreceptor survival.
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22.
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2011/11
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High-performance thin-layer chromatography/mass spectrometry for the analysis of neutral glycosphingolipids.
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23.
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2011/02
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Synthesis of the sphingolipid activator protein, saposin C, using an azido-protected O-acyl isopeptide as an aggregation-disrupting element.
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24.
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2010/08
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A Mutation in the Saposin C Domain of the Sphingolipid Activator Protein (Prosaposin) Gene Causes Neurodegenerative Disease in Mice.
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25.
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2010/03
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Developmental changes in glycolipids and synchronized expression of nutrient transporters in the mouse small intestine.
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26.
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2009/11
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Regional expression of prosaposin in the wild-type and saposin D-deficient mouse brain detected by an anti-mouse prosaposin-specific antibody.
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27.
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2008/09
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HPTLC-MS for rapid analysis of neutral glycosphingolipids.
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28.
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2007/11
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The function of sphingolipids in the nervous system: Lessons learnt from mouse models of specific sphingolipid activator protein deficiencies.
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29.
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2006/06
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GD3-and O-acetylated GD3-ganglopsides in the GM2 synthase-deficient mouse brain and their immunohistochemical localization.
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30.
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2006/04
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Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking.
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31.
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2005/07
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Hematopoietic cell transplantation ameliorates clinical phenotype and progression of the CNS pathology in the mouse model of late onset Krabbe disease.
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32.
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2005/01
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Apoptosis accompanied by up-regulation of TNF-alpha death pathway genes in the brain of Niemann-Pick type C disease.
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33.
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2004/11/01
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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 the mouse.
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34.
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2004/10
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Plasma adiponectine levels in newborns are higher than those in adults and positively correlated with birth weight.
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35.
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2004/08
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Genetic background markedly influences vulnerability of the hippocampal neuronal organization in the twitcher mouse model of globoid cell leukodystrophy.
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36.
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2004/07
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Comparative Clinico-Pathological study of saposin-A deficient (SAP-A-/-) and twitcher mice.
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37.
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2003/12
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Are animal models useful for understanding the pathophysiology of lysosomal storage disease? ,
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38.
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2003/11
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Ghrelin concentration in cord and neonatal blood: relation to fetal growth and energy balance.
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39.
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2003/09
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Seminolipid and its precursor/degradative product, galactosylalkylacylglycerol, in the testis of saposin A- and prosaposin-deficient mice.
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40.
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2002/10
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Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.
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41.
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2001/11
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Dramatic phenotypic improvement during pregnancy in a genetic leukodystrophy: Estrogen appears to be a critical factor.
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42.
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2001/11
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Expression of immune-related molecules is down-regulated in twitcher mice following bone marrow transplantation.
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43.
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2001/06
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Psychosine is as potent an inducer of cell death as C6-ceramide in cultured fibroblasts and in MOCH cells.
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44.
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2001/05
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A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.
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45.
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2000/07
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Infiltration of hematogenous lineage cells into the demyelinating central nervous system of twitcher mice.
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46.
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2000/07
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Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency).
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47.
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2000/01
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Biochemistry and neuropathology of mice doubly deficient in synthesis and degradation of galactosylceramide.
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48.
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2000/01
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Twitcher mice with only a single active galactosylceramide synthase gene exhibit clearly detectable but therapeutically minor phenotypic improvements.
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49.
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1999/11
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Developmental changes in long-form leptin receptor expression and localization in rat brain.
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50.
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1999/01
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Dynamic changes in serum leptin concentrations during the fetal and neonatal periods.
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51.
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1998/01
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Comparison of GAD and ICA512/IA-2 antibodies at and after the onset of IDDM.
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52.
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1998/01
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Effect of growth hormone on the translocation of GLUT4 and its relation to insulin-like and anti-insulin action.
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53.
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1997/05
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Serum leptin concentration in cord blood: relationship to birth weight and gender.
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54.
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1995/05
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DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia.
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