A5105768648- Lysosomal Storage Disorders Research
- Trypanosoma species research and implications
- Autophagy in Disease and Therapy
- Neurogenetic and Muscular Disorders Research
- Virus-based gene therapy research
- Biochemical and Molecular Research
- Glycogen Storage Diseases and Myoclonus
- Carbohydrate Chemistry and Synthesis
- Glycosylation and Glycoproteins Research
- Calcium signaling and nucleotide metabolism
- Lung Cancer Treatments and Mutations
- CRISPR and Genetic Engineering
- Cellular transport and secretion
- Colorectal Cancer Treatments and Studies
- Cancer Treatment and Pharmacology
- Mesenchymal stem cell research
- Diabetes and associated disorders
- Sphingolipid Metabolism and Signaling
- Colorectal Cancer Surgical Treatments
- Angiogenesis and VEGF in Cancer
- Blood Coagulation and Thrombosis Mechanisms
- Genetics and Neurodevelopmental Disorders
- Protease and Inhibitor Mechanisms
- Enzyme function and inhibition
- Cytomegalovirus and herpesvirus research
Jikei University School of Medicine
2015-2025
Kawasaki Medical School
2020
DNA Medicine Institute (United States)
2013
Yamagata University Hospital
2011
National Cancer Center
2009
Mucopolysaccharidosis type II (MPS II) is a neuropathic lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS), which leads to the accumulation glycosaminoglycans (GAGs). We demonstrated that biochemical alterations in brains MPS mice are not corrected bone marrow transplantation (BMT) or enzyme replacement therapy, although BMT has been shown be effective for other neurodegenerative MPSs, such as Hurler syndrome. In this study, we lentiviral isogeneic hematopoietic...
We previously demonstrated that mesenchymal stem cells (MSCs) differentiate into functional kidney capable of urine and erythropoietin production, indicating they may be used for regeneration. However, the viability MSCs from dialysis patients affected under uremic conditions. In this study, we isolated adipose tissues end-stage disease (ESKD) undergoing long-term (KD-MSCs; mean: 72.3 months) healthy controls (HC-MSCs) to compare their viability. KD-MSCs HC-MSCs were assessed proliferation...
Pompe disease is an autosomal recessive inherited metabolic caused by deficiency of acid α-glucosidase (GAA). Glycogen accumulation seen in the affected organ such as skeletal muscle, heart, and liver. Hypertrophic cardiomyopathy frequently infantile onset disease. On other hand, cardiovascular complication late-onset considered less frequent severe than that onset. There are few investigations which show late due to shortage appropriate model. We have generated disease-specific induced...
Pompe disease (PD) is a lysosomal storage that caused by deficiency of the acid α-glucosidase, which results in glycogen accumulation lysosome. The major clinical symptoms PD include skeletal muscle weakness, respiratory failure, and cardiac hypertrophy. Based on its severity symptom onset, classified into infantile late-onset forms. Lysosomal can promote many types cellular dysfunction, such as autophagic endoplasmic reticulum stress, abnormal calcium signaling within muscle. However,...
GM1 gangliosidosis is a lysosomal storage disorder (LSD) and caused by genetic defects in the β-galactosidase (β-gal). The primary substrate of β-gal ganglioside (GM1), sialylated glycosphingolipid abundant central nervous system (CNS). deficiency causes to accumulate neural cells leading rapid decline psychomotor functions, seizures, premature death. There currently no therapy available. Although enzyme replacement (ERT) has been approved for other LSDs, its effects on CNS are limited owing...
Abstract Background Constitutive activation of nuclear factor kappa‐B (NF‐κB) contributes to the aggressive behavior pancreatic cancer. Over‐expression downstream target genes NF‐κB such as intercellular adhesion molecule‐1 (ICAM‐1), interleukin‐8 (IL‐8), vascular endothelial growth (VEGF) and matrix metalloproteinase‐9 (MMP‐9) leads promotion cell adhesion, angiogenesis, invasion metastasis. We previously reported that nafamostat mesilate, a synthetic serine protease inhibitor, blocks in...
Pompe disease (PD) is a lysosomal disorder caused by acid α-glucosidase (GAA) deficiency. Progressive muscular weakness the major symptom of PD, and enzyme replacement therapy can improve clinical outcome. However, to achieve better outcome, alternative therapeutic strategies are being investigated, including gene pharmacological chaperones. We previously used lentiviral vector-mediated GAA transfer in PD patient-specific induced pluripotent stem cells. Some efficacy was observed, although...
Pompe disease is an autosomal recessive myopathic disorder caused by the deficiency of lysosomal acid α-glucosidase (GAA). Recently, we showed that function mutant GAA in fibroblasts derived from patient carrying c.546G>T mutation improved treatment with proteasome inhibitor bortezomib as well pharmacological chaperone (PC). However, bortezomib-responsive mutations are not fully characterized. In this study, effect on different mutants and transiently expressed HEK293T cells. Bortezomib...
Vascular endothelial growth factor (VEGF) and its receptors VEGF-R1, -R2 -R3 play important roles in tumor angiogenesis are associated with poor prognosis several solid tumors. However, their functional significance remains unclarified. Here, we investigated the associations between expression of these clinical outcomes colorectal cancer (CRC) patients.An immunohistochemical approach was used to detect 91 CRC patients who underwent surgery received chemotherapy at National Cancer Center...
Mucopolysaccharidosis type II is a disease caused by organ accumulation of glycosaminoglycans due to iduronate 2-sulfatase deficiency. This study investigated the pathophysiology bone complications associated with mucopolysaccharidosis and effect lentivirus-mediated gene therapy hematopoietic stem cells on lesions mouse models in comparison enzyme replacement therapy. Bone volume, density, strength, trabecular number were significantly higher untreated mice than wild-type mice. Accumulation...