A5064499324- Lysosomal Storage Disorders Research
- Sphingolipid Metabolism and Signaling
- Metabolism and Genetic Disorders
- Glycosylation and Glycoproteins Research
- Carbohydrate Chemistry and Synthesis
- Biochemical Acid Research Studies
- Cellular transport and secretion
- Ocular Diseases and Behçet’s Syndrome
- Regulation of Appetite and Obesity
- Calcium signaling and nucleotide metabolism
- Lipid Membrane Structure and Behavior
- Alcoholism and Thiamine Deficiency
- Mitochondrial Function and Pathology
- Trypanosoma species research and implications
- Amino Acid Enzymes and Metabolism
- Lymphoma Diagnosis and Treatment
- Lipid metabolism and biosynthesis
- CNS Lymphoma Diagnosis and Treatment
- Biochemical Analysis and Sensing Techniques
- Systemic Lupus Erythematosus Research
- Retinal Diseases and Treatments
- Birth, Development, and Health
- Retinoids in leukemia and cellular processes
- Diabetes and associated disorders
- Galectins and Cancer Biology
Kawasaki Medical School
2016-2025
Kawasaki Hospital
2020-2022
Nerima General Hospital
2017-2018
The University of Tokyo
2014-2017
University of Tokyo Hospital
2016-2017
Tokai University
2006-2015
Tokyo Metropolitan Geriatric Hospital
2012
Tokushima University
1995-2008
University of North Carolina at Chapel Hill
2000-2005
Pediatrics and Genetics
2004
To investigate the effect of leptin on fetal growth, serum concentrations in venous cord blood were measured 82 newborns (male = 43, female 39, gestational age 36-42 weeks, birth weight 2,306-4,128 g). Serum ranged from 2.0 to 84.5 ng/mL (mean 19.9 +/- 17.4 ng/mL). males 15.3 15.6 ng/mL, range 79.3 ng/mL) significantly (P 0.011) lower than those females 25.0 18.0 2.1 positively correlated with (r 0.555, P <0.0001), SD 0.540, Kaup index 0.505, <0.0001) and body weight/body height 0.560,...
Abstract Recently, the genetic variability in lysosomal storage disorders has been implicated pathogenesis of Parkinson’s disease. Here, we found that variants prosaposin (PSAP), a rare causative gene various types disorders, are linked to Genetic mutation screening revealed three pathogenic mutations saposin D domain PSAP from families with autosomal dominant Whole-exome sequencing no other previously identified disease-causing or disorder-causing genes. A case-control association study two...
Sphingolipid activator proteins (saposins A, B, C and D) are small homologous glycoproteins derived from a common precursor protein (prosaposin) encoded by single gene. They required for in vivo degradation of sphingolipids with short carbohydrate chains. Six cysteines one glycosylation site strictly conserved all four saposins. Total deficiency saposins specific saposin B or known among human patients. A mouse model total closely mimics the disease. However, no D is known. We introduced an...
To investigate the relationship between ghrelin and both fetal neonatal growth parameters energy balance, we measured plasma concentrations in 54 cord blood samples (male, n = 34; female, 20; gestational age, 37.0–41.6 wk; birth weight, 2206–4326 g) 47 27; postnatal d 3–8). The ranged from 110.6–446.1 pmol/liter (median, 206.7 pmol/liter), which were equal to or higher than those normal weight adults. These values inversely correlated with (r −0.40; P 0.002), length −0.36; 0.007), placental...
The complex-type N-linked octasaccharide oxazoline having LacNAc as the nonreducing end sugar was efficiently synthesized using benzyl-protected LacNAc, mannose, and β-mannosyl GlcNAc units key building blocks. To achieve a highly β-selective glycosylation with unit, N-trichloroacetyl group used for protection of amino in unit. After complete assembly these deprotection, obtained free successfully derivatized into corresponding oxazoline. On other hand, N-acetylglucosaminylated saposin C,...
Summary Primary intraocular lymphoma ( IOL ) has a propensity for central nervous system CNS relapse within 2 years of initial diagnosis, affecting clinical outcome. To reduce relapse, we performed the combination treatment protocols intravitreal methotrexate injections, methotrexate‐based systemic induction chemotherapy and consolidation high‐dose cytarabine reduced‐dose whole brain radiation therapy (rd WBRT , 23·4 Gy) B‐cell primary with or without newly diagnosed involvement. All...
The sphingolipid activator proteins (saposins A, B, C and D) are small homologous glycoproteins that encoded by a single gene in tandem within large precursor protein (prosaposin) required for vivo degradation of some sphingolipids with relatively short carbohydrate chains. Human patients prosaposin or specific saposin B deficiency known, prosaposin- A-deficient mouse lines have been generated. Experimental evidence suggests D may be lysosomal acid ceramidase activator. However, no state is...
Cryptococcus neoformans ( Cn ) is a fungal pathogen responsible for cryptococcal meningitis, which accounts 15% of AIDS-related deaths. Recent studies have shown that the absence sterol β-glucosidase (EGCrP2, also known as Sgl1) in significantly attenuates its virulence mouse infection model. However, mechanisms underlying this attenuation remain unclear. In study, we observed significant increase dead cells after 3 days culture SGL1 -deficient sgl1 Δ, KO) at 37°C, compared with wild-type...
To investigate the effect of leptin on fetal growth, serum concentrations in venous cord blood were measured 82 newborns (male= 43, female = 39, gestational age 36–42 weeks, birth weight 2,306–4,128 g). Serum ranged from 2.0 to 84.5 ng/mL (mean 19.9 ± 17.4 ng/mL). males 15.3 15.6 ng/mL, range 79.3 ng/mL) significantly lower (P 0.011) than those females 25.0 18.0 2.1 positively correlated with (r 0.555, P < 0.0001), sd 0.540, Kaup index 0.505, and body weight/body height 0.560, 0.0001). The...
Photoreceptor cell death is the hallmark of a group human inherited retinal degeneration. Although causative genetic mutations are often known, mechanisms leading to photoreceptor degeneration remain poorly defined. Here, we show that Semaphorin 4A (Sema4A), member axonal guidance molecule semaphorin, plays role in Rab11/FIP2-mediated endosomal sorting pigment epithelial cells support function. In response oxidative stress, Sema4A switches lysosomal precursor protein prosaposin from lysosome...
The expression and localization of long-form leptin receptor (OB-Rb) were studied immunocytochemically in the brain fetal adult rats using a polyclonal antibody that specifically recognized OB-Rb. At 14 days gestation, immunoreactive cells observed ventricular layer, which contains premature neuronal cells. 18 they weakly stained but obvious paraventricular nucleus (PVN), ependymal also showed immunoreactivity. birth, immunoreactivity OB-Rb PVN seemed to be much lower than remained low...
Twitcher (twi/twi) is a murine model of human genetic demyelinating disease, globoid cell leukodystrophy (Krabbe disease). The affected mice usually die before reaching age 45 days, having demyelination associated with extensive glial activation. twi/twi that receive wild-type bone marrow transplantation (BMT) survive up to 3 times longer improved pathology. We hypothesize immune-related molecules such as cytokines and chemokines are partly responsible for the in twi/twi, decrease expression...
To investigate the frequencies of diseases in new patients with uveitis during 2007-2009 and compare them previously-reported data from University Tokyo Hospital.We retrospectively analyzed clinical records who visited outpatient clinic January 2007 to December 2009, compared those 1963-2006.During 2007-2009, 468 our hospital. Definite diagnoses were made 63.0%. Frequent include sarcoidosis (9.4%), Vogt-Koyanagi-Harada (VKH) disease (7.9%), herpetic iritis (6.0%), Behçet's (5.6%),...
To investigate the frequency of conditions newly arrived patients with uveitis from 2010 to 2012 and compare this that since 2004.We retrospectively analyzed clinical records who visited outpatient clinic January December 2012, compared them those 2004-2009.From 695 new Tokyo University Hospital, a definite diagnosis made in 431 (62.0%). The most common was scleritis (8.3%), followed by sarcoidosis (8.1%); herpetic iridocyclitis (5.5%); Behçet disease (4.6%); Vogt-Koyanagi-Harada (4.0%);...
Globoid cell leukodystrophy is one of the classical genetic leukodystrophies in humans. The typical infantile disease man (Krabbe disease) caused by deficiency lysosomal galactosylceramidase. We recently generated a new mouse model late-onset, chronic form inactivating saposin A, essential activator phenotypic features A–/– mice are qualitatively identical but milder than those twitcher mice, which galactosylceramidase deficiency. During intercrossing we observed that affected females...
Saposins (A, B, C and D) are ∼80 amino acid stimulators of glycosphingolipid (GSL) hydrolases that derive from a single precursor, prosaposin. In both humans mice, prosaposin/saposin deficiencies lead to severe neurological deficits. The CD−/− mice with saposin D combined were produced by introducing genomic point mutations into critical cysteine in each these saposins. These develop phenotype ataxia, kyphotic posturing hind limb paralysis. Relative prosaposin null (∼30 days), had an...
We have previously reported that phytoceramide and phytosphingosine (PHS) stimulated the transcriptional activity of peroxisome proliferator-activated receptor γ (PPARγ) in cells. PPARγ is a therapeutic target for type 2 diabetes. found this study an oral administration PHS improved diet-induced glucose intolerance mice. Since highly expressed yeast, fermented foods may improve
Abstract Biallelic mutations in the neuroblastoma amplified sequence ( NBAS ) gene have been reported to cause two different clinical spectra: short stature with optic nerve atrophy and Pelger-Huët anomaly (SOPH) syndrome infantile liver failure 2 (ILFS2). Here, we describe a case of 3-year-old Japanese boy who presented fever-triggered recurrent acute (ALF). The characteristics were considerable elevation enzymes, severe coagulopathy, renal failure. In addition phenotype, he had peripheral...
Infiltration of hematogenous lineage cells into the central nervous system (CNS) was investigated in twitcher mouse, a murine model globoid cell leukodystrophy human. The were selectively labeled following intraperitoneal injection rhodamine isothiocyanate (RhIc). frequency detecting RhIc-labeled (Rhlc+ cells) CNS varied with age. RhIc+ hardly detected when made prior to postnatal day (PND) 30. number Rhlc+ increased thereafter peaked at PND 35–38 and declined drastically 40–45. majority...