A5030937450- Muscle Physiology and Disorders
- Particle physics theoretical and experimental studies
- Quantum Chromodynamics and Particle Interactions
- Inflammatory Myopathies and Dermatomyositis
- High-Energy Particle Collisions Research
- Genetic Neurodegenerative Diseases
- Cardiomyopathy and Myosin Studies
- Nuclear Structure and Function
- RNA Research and Splicing
- Neutrino Physics Research
- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Cellular transport and secretion
- Particle Detector Development and Performance
- Ion channel regulation and function
- Dark Matter and Cosmic Phenomena
- Medical Imaging Techniques and Applications
- RNA regulation and disease
- Autophagy in Disease and Therapy
- Glycosylation and Glycoproteins Research
- RNA modifications and cancer
- Adipose Tissue and Metabolism
- Ubiquitin and proteasome pathways
- Atomic and Subatomic Physics Research
National Center of Neurology and Psychiatry
2016-2025
National Neuroscience Institute
2009-2024
Osaka Metropolitan University
2023
NTL Institute for Applied Behavioral Science
2022-2023
Osaka University
1983-2021
University of Tsukuba
2020-2021
Institute of Science Tokyo
2012-2021
National College Of Nursing
2010-2021
Nara Medical University
2021
Keio University
2020-2021
Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive muscle-wasting disorder common in North Africa that segregates with microsatellite markers at chromosome 13q12. Here, it shown mutation the gene encoding 35-kilodalton dystrophin-associated glycoprotein, γ-sarcoglycan, likely to be primary genetic defect this disorder. The human γ-sarcoglycan was mapped 13q12, and deletions alter its reading frame were identified three families one of four sporadic cases...
Distal myopathy with rimmed vacuoles (DMRV) is an autosomal-recessive disorder preferential involvement of the tibialis anterior muscle that starts in young adulthood and spares quadriceps muscles. The disease locus has been mapped to chromosome 9p1-q1, same region as hereditary inclusion body (HIBM) locus. HIBM was originally described vacuole sparing quadriceps; therefore, two diseases have suspected be allelic. Recently, shown associated mutations gene encoding bifunctional enzyme,...
Some patients with autosomal recessive limb-girdle muscular dystrophy have mutations in the genes coding for sarcoglycan proteins (alpha-, beta-, gamma-, and delta-sarcoglycan). To determine frequency of sarcoglycan-gene relation between clinical features genotype, we studied several hundred myopathy.Antibody against alpha-sarcoglycan was used to stain muscle-biopsy specimens from 556 myopathy normal dystrophin (the gene frequently deleted X-linked dystrophy). Patients whose biopsy showed a...
AbstractAutophagy is an evolutionally conserved intracellular mechanism for the degradation of organelles and proteins. Here we demonstrate presence perinuclear autophagosomes/autolysosomes containing nuclear components in envelopathies caused by mutations genes encoding A-type lamins (LMNA) emerin (EMD). These were sometimes bigger than nucleus. The autophagic nature further supported up-regulation LC3-II LmnaH222P/H222P fibroblasts. In addition, inhibition autophagy led to accumulation...
Dystrophin is purified as a complex with several proteins from the digitonin‐solubilized muscle cell membrane. Most of dystrophin‐associated (DAPs) are assumed to form large oligomeric transmembranous glycoprotein on sarcolemma and link dystrophin basement membrane protein, laminin. In present study, we found that dystrophin‐DAP was dissociated into groups by n ‐octyl‐β‐ d ‐glucoside treatment. particular, stated above two distinct groups: one composed 156DAG 43DAG (A3a) other 50DAG, 35DAG...
Background: Fukuyama-type congenital muscular dystrophy (FCMD) is an autosomal recessive disorder characterized by severe dystrophic muscle wasting from birth or early infancy with structural brain abnormalities. The gene for FCMD located on chromosome 9q31, and encodes a novel protein named fukutin. function of fukutin not known yet, but suggested to be enzyme that modifies the cell-surface glycoprotein glycolipids.
We report a study of the processes ${e}^{+}{e}^{\ensuremath{-}}\ensuremath{\rightarrow}J/\ensuremath{\psi}{D}^{(*)}{\overline{D}}^{(*)}$. In $J/\ensuremath{\psi}{D}^{*}{\overline{D}}^{*}$ we observe significant enhancement in ${D}^{*}{\overline{D}}^{*}$ invariant mass spectrum, which interpret as new charmoniumlike state and denote $X(4160)$. The $X(4160)$ parameters are $M=({4156}_{\ensuremath{-}20}^{+25}\ifmmode\pm\else\textpm\fi{}15)\text{ }\text{ }\mathrm{MeV}/{c}^{2}$...
The store-operated Ca2+ release-activated (CRAC) channel is activated by diminished luminal levels in the endoplasmic reticulum and sarcoplasmic (SR), constitutes one of major entry pathways various tissues. Tubular aggregates (TAs) are abnormal structures skeletal muscle, although their mechanism formation has not been clarified, altered homeostasis related to a disordered SR suggested be main contributing factors. TA myopathy hereditary muscle disorder that pathologically characterized...
We report the observation of a new $D_{sJ}$ meson produced in $B^{+} \to \bar{D}^{0} D_{sJ} D^{0} K^{+}$. This state has mass $M=2708 \pm 9 ^{+11}_{-10} \rm{MeV}/{\it c}^{2}$, width $\Gamma = 108 23 ^{+36}_{-31} ~\rm{MeV}/ {\it c}^{2}$ and $1^{-}$ spin-parity. The results are based on an analysis 449 million $B\bar{B}$ events collected at $\Upsilon(4S)$ resonance with Belle detector KEKB asymmetric-energy $e^{+} e^{-}$ collider.
Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by weakness and hypotonia in early infancy. A number genes harboring causative mutations have been identified, but several cases congenital remain molecularly unresolved. We examined 15 individuals with early-onset wasting, mental retardation, peculiar enlarged mitochondria that are prevalent toward the periphery fibers sparse center on biopsy, we identified homozygous or compound...
Facioscapulohumeral muscular dystrophy (FSHD) is a heterogenetic disorder predominantly characterized by progressive facial and scapular muscle weakness. Patients with FSHD either have contraction of the D4Z4 repeat on chromosome 4q35 or mutations in chromatin modifiers SMCHD1 DNMT3B, both causing relaxation inappropriate expression D4Z4-encoded
Abstract Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive distal limb weakness, ptosis, ophthalmoplegia, bulbar weakness and rimmed vacuoles on biopsy. Recently, CGG repeat expansions in the noncoding regions of two genes, LRP12 GIPC1 , have been reported to be causative for OPDM. Furthermore, neuronal intranuclear inclusion (NIID) has recently caused NOTCH2NLC . We aimed identify clinicopathologically characterize patients with OPDM who...
Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited neuromuscular disease. The genetic diagnosis is not easily made because of large size dystrophin gene, complex mutational spectrum high number tests patients undergo for diagnosis. Multiplex ligation-dependent probe amplification (MLPA) has been used as initial diagnostic test choice. Although MLPA can diagnose 70% DMD/BMD having deletions/duplications, remaining 30% with small mutations require further...
<h3>Background and Objectives</h3> Discoveries of dermatomyositis-specific antibodies (DMSAs) in patients with dermatomyositis raised awareness various myopathologic features among antibody subtypes. However, only perifascicular atrophy myxovirus resistant protein A (MxA) overexpression were officially included as definitive pathologic criteria for classification. We aimed to demonstrate MxA-positive determine characteristic different DMSA <h3>Methods</h3> performed a retrospective pathology...
beta-Sarcoglycan, one of the subunits sarcoglycan complex, is a transmembranous glycoprotein which associates with dystrophin and molecule responsible for beta-sarcoglycanopathy, Duchenne-like autosomal recessive muscular dystrophy. To develop an animal model beta-sarcoglycanopathy to clarify role beta-sarcoglycan in pathogenesis muscle degeneration vivo, we developed beta-sarcoglycan-deficient mice using gene targeting technique. beta-Sarcoglycan-deficient (BSG(-)(/-)mice) exhibited...
Distal myopathy with rimmed vacuoles is an autosomal recessive muscle disease preferential involvement of the tibialis anterior that spares quadriceps muscles in young adulthood. In a Japanese patient distal vacuoles, we identified pathogenic mutations gene encoding bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, which catalyzes initial two steps biosynthesis sialic acid. this study, demonstrated relationship between genetic and enzymatic activities using vitro expression assay...
Abstract Objective The fukutin gene ( FKTN ) is the causative for Fukuyama‐type congenital muscular dystrophy, characterized by rather homogeneous clinical features of severe muscle wasting and hypotonia from early infancy with mental retardation. In contrast dystrophic involvement skeletal muscle, cardiac insufficiency quite rare. dystrophy one disorders associated glycosylation defects α‐dystroglycan, an indispensable molecule intra‐extra cell membrane linkage. Methods Protein functional...
Recently, mutations in the genes encoding several of dystrophin-associated proteins have been identified that produce phenotypes ranging from severe Duchenne-like autosomal recessive muscular dystrophy to milder limb-girdle dystrophies (LGMDs). LGMD type 2C is generally associated with a more clinical course and prevalent northern Africa. A previous study single base pair deletion gene protein gamma-sarcoglycan number Tunisian patients. To investigate whether cause other populations, we...
Malignant hyperthermia (MH) is a disorder of calcium homeostasis in skeletal muscle triggered by volatile anesthetics or succinylcholine susceptible persons. More than 100 mutations the ryanodine receptor type 1 gene (RYR1) have been associated with MH susceptibility, central core disease, both. RYR1 may account for up to 70% MH-susceptible cases. The authors aimed determine frequency and distribution Japanese population.The selected 58 unrelated diagnosed as having an enhanced Ca-induced Ca...