A5009074217- Inflammatory Myopathies and Dermatomyositis
- Cardiomyopathy and Myosin Studies
- Muscle Physiology and Disorders
- Skin Diseases and Diabetes
- Nuclear Structure and Function
- Pluripotent Stem Cells Research
- Cellular Mechanics and Interactions
- Genetic Neurodegenerative Diseases
- Congenital Heart Disease Studies
- Single-cell and spatial transcriptomics
- Adipose Tissue and Metabolism
- RNA Research and Splicing
- Amyotrophic Lateral Sclerosis Research
- Diet and metabolism studies
- Congenital heart defects research
- Myasthenia Gravis and Thymoma
- Metabolism and Genetic Disorders
- Barrier Structure and Function Studies
- Congenital Diaphragmatic Hernia Studies
- Hematological disorders and diagnostics
- Cellular transport and secretion
- Bone and Joint Diseases
- Head and Neck Anomalies
- Parkinson's Disease Mechanisms and Treatments
- Cardiovascular Effects of Exercise
Nara Medical University
2016-2023
The brainstem is a posterior region of the brain, composed three parts, midbrain, pons, and medulla oblongata. It critical in controlling heartbeat, blood pressure, respiration, all which are life-sustaining functions, therefore, damages to or disorders can be lethal. Brain organoids derived from human pluripotent stem cells (hPSCs) recapitulate course brain development expected useful for medical research on central nervous system disorders. However, existing organoid models limited extent...
<h3>Importance</h3> Repeat expansion of CGG in<i>LRP12</i>has been identified as the causative variation oculopharyngodistal myopathy (OPDM). However, to our knowledge, clinicopathologic features OPDM with repeat in<i>LRP12</i>(hereafter referred OPDM_LRP12) remain unknown. <h3>Objective</h3> To identify and characterize patients OPDM_LRP12<i>.</i> <h3>Design, Setting, Participants</h3> This case series included 208 a clinical or diagnosis oculopharyngeal muscular dystrophy (OPDM) from...
Abstract Nuclear import receptors (NIRs) not only transport RNA-binding proteins (RBPs) but also modify phase transitions of RBPs by recognizing nuclear localization signals (NLSs). Toxic arginine-rich poly-dipeptides from C9orf72 interact with NIRs and cause nucleocytoplasmic deficit. However, the molecular basis for toxicity toward function as modifiers remains unidentified. Here we show that impede ability to RBPs. Isothermal titration calorimetry size-exclusion chromatography revealed...
Danon disease, an X-linked dominant cardioskeletal myopathy, is caused by primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). To clarify the clinicopathological features and management, we performed first nationwide, questionnaire-based survey on disease in Japan. A total 39 patients (17 males, 22 females) from 20 families were identified analysis. All had cardiomyopathy. Of 21 who died, (95%) died cardiac failure or sudden arrest. Most hypertrophic Wolf–Parkinson–White...
Ischemic stroke is one of the most common neurological diseases. However, impact ischemic on human cerebral tissue remains largely unknown due to a lack brain samples. In this study, we applied organoids derived from induced pluripotent stem cells evaluate effect oxygen-glucose deprivation/reoxygenation (OGD/R). Pathway analysis showed relationships between vitamin digestion and absorption, fat peroxisome proliferator-activated receptor (PPAR) signaling pathway, complement coagulation...
Proline:arginine (PR) poly-dipeptides from the GGGGCC repeat expansion in C9orf72 have cytotoxicity and bind intermediate filaments (IFs). However, it remains unknown how PR affect cytoskeletal organization focal adhesion (FA) formation. Here, we show that changes to cytoskeleton FA by result alteration of cell stiffness mechanical stress response. increased junctions branches IF network stiffness. They also changed distribution actin size intracellular calcium concentration. or an inhibitor...
Chronic graft-versus-host disease (cGVHD) is the most important complication resulting in death of bone marrow transplantation (BMT) survivors. It also a relatively rare cause inflammatory myopathy (IM). We report case 46-year-old woman who developed severe cGVHD-related IM after BMT for myelodysplastic syndrome. She presented with muscle pain and weakness symptoms other organs. Myopathological analysis showed moderate cell infiltration remarkable necrotic regenerative fibers. Sarcoplasm...
ABSTRACT Low-complexity (LC) domains of proteins are found in about one fifth human proteome, and a group LC-domains form labile cross-β polymers liquid-like droplets. Polymers droplets formed from dynamically regulated by posttranslational modifications molecular chaperones including nuclear transport receptors. Repeat expansion the first intron gene designated C9orf72 , which is most prevalent familial amyotrophic lateral sclerosis (ALS), causes nucleocytoplasmic deficit, however, detailed...
Summary The brainstem controls heartbeat, blood pressure and respiration, which are life-sustaining functions, therefore, disorders of the can be lethal. Brain organoids derived from human pluripotent stem cells recapitulate course brain development expected to useful for medical research on central nervous system disorders. However, existing organoid models have limitations, hampering elucidation diseases affecting specific components brain. Here, we developed a method generate (hBSOs),...
Abstract Ischemic stroke is one of the most common neurological disease. However, impact ischemic on human cerebral tissue remains largely unknown; due to a lack brain samples. In this study, we used organoids derived from induced pluripotent stem cells evaluate effect oxygen-glucose deprivation/reoxygenation (OGD/R). We identified 15 differentially expressed genes (DEGs); and found that all DEGs were downregulated. Pathway analysis showed relationship vitamin digestion absorption, fat...
Abstract Amyotrophic lateral sclerosis (ALS) is an irreversible neurodegenerative disease caused by the degeneration of motor neurons, and cytoskeletal instability considered to be involved in neurodegeneration. A hexanucleotide repeat expansion C9orf72 , one most common causes familial ALS, produces toxic proline:arginine (PR) poly-dipeptides. PR poly-dipeptides binds polymeric forms low complexity sequences intracellular puncta, thereby altering intermediate filaments (IFs). However, how...