I Nishino

Summary

Affiliation: National Institute of Neuroscience
Country: Japan

Publications

  1. ncbi request reprint Molecular pathomechanism of distal myopathy with rimmed vacuoles
    I Nishino
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Acta Myol 24:80-3. 2005
  2. pmc Cell stress molecules in the skeletal muscle of GNE myopathy
    Charlotte Fischer
    Department of Neurology, University Medical Center, Gottingen, Germany
    BMC Neurol 13:24. 2013
  3. ncbi request reprint Autophagic vacuolar myopathy
    Ichizo Nishino
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Tokyo, Japan
    Semin Pediatr Neurol 13:90-5. 2006
  4. ncbi request reprint Muscular dystrophies
    Ichizo Nishino
    National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Tokyo, Japan
    Curr Opin Neurol 15:539-44. 2002
  5. ncbi request reprint Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy
    I Nishino
    Department of Neuromuscular Research, National Institute of Neuroscience, Kodaira, Tokyo, Japan
    Neurology 59:1689-93. 2002
  6. ncbi request reprint Autophagic vacuolar myopathies
    Ichizo Nishino
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8502, Japan
    Curr Neurol Neurosci Rep 3:64-9. 2003
  7. ncbi request reprint MNGIE: from nuclear DNA to mitochondrial DNA
    I Nishino
    Department of Neurology, Columbia University, New York, NY 10032, USA
    Neuromuscul Disord 11:7-10. 2001
  8. ncbi request reprint Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
    I Nishino
    Department of Neurology, Columbia University, New York, New York 10032, USA
    Nature 406:906-10. 2000
  9. ncbi request reprint Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan
    N Minami
    Department of Laboratory Medicine, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan
    J Neurol Sci 171:31-7. 1999
  10. ncbi request reprint A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene
    E Matsubara
    Department of Neurology, Okayama University, Okayama, Japan
    Eur J Neurol 14:819-22. 2007

Collaborators

Detail Information

Publications124 found, 100 shown here

  1. ncbi request reprint Molecular pathomechanism of distal myopathy with rimmed vacuoles
    I Nishino
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Acta Myol 24:80-3. 2005
    ..However, we still do not know why hyposialylation leads to the formation of rimmed vacuoles. To further elucidate the pathomechanism and to develop a therapy of DMRV, we need to produce mouse model mouse for this disease...
  2. pmc Cell stress molecules in the skeletal muscle of GNE myopathy
    Charlotte Fischer
    Department of Neurology, University Medical Center, Gottingen, Germany
    BMC Neurol 13:24. 2013
    ..In sporadic inclusion body myositis (sIBM), the pro-inflammatory cell-stress mediators αB-crystallin and inducible nitric oxide synthase (iNOS) are crucial markers of the disease pathology...
  3. ncbi request reprint Autophagic vacuolar myopathy
    Ichizo Nishino
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Tokyo, Japan
    Semin Pediatr Neurol 13:90-5. 2006
    ....
  4. ncbi request reprint Muscular dystrophies
    Ichizo Nishino
    National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Tokyo, Japan
    Curr Opin Neurol 15:539-44. 2002
    ..Muscular dystrophy includes many genetically distinct disorders. The list of causative genes for muscular dystrophy has been expanding rapidly, including those for congenital muscular dystrophies...
  5. ncbi request reprint Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy
    I Nishino
    Department of Neuromuscular Research, National Institute of Neuroscience, Kodaira, Tokyo, Japan
    Neurology 59:1689-93. 2002
    ..Recently, HIBM was shown to be associated with the mutations in the gene encoding the bifunctional enzyme, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE)...
  6. ncbi request reprint Autophagic vacuolar myopathies
    Ichizo Nishino
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8502, Japan
    Curr Neurol Neurosci Rep 3:64-9. 2003
    ..Danon disease, the best-characterized disorder in this group, is caused by primary deficiency of a lysosomal membrane protein, LAMP-2. Therefore, diseases in this category are expected to be primary lysosomal disease...
  7. ncbi request reprint MNGIE: from nuclear DNA to mitochondrial DNA
    I Nishino
    Department of Neurology, Columbia University, New York, NY 10032, USA
    Neuromuscul Disord 11:7-10. 2001
    ..The identification of the MNGIE gene has allowed us to classify MNGIE as a disease of nucleoside dysmetabolism. We may be entering a new era of research on mitochondrial nucleoside metabolism...
  8. ncbi request reprint Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
    I Nishino
    Department of Neurology, Columbia University, New York, New York 10032, USA
    Nature 406:906-10. 2000
    ..To our knowledge this is the first example of human cardiopathy-myopathy that is caused by mutations in a lysosomal structural protein rather than an enzymatic protein...
  9. ncbi request reprint Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan
    N Minami
    Department of Laboratory Medicine, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan
    J Neurol Sci 171:31-7. 1999
    ....
  10. ncbi request reprint A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene
    E Matsubara
    Department of Neurology, Okayama University, Okayama, Japan
    Eur J Neurol 14:819-22. 2007
    ..Asymmetrical wasting of muscles in the extremities exhibited uniform and highly selective CT imaging patterns. RNA and DNA analyses confirmed novel compound heterozygous mutations (R147X/L212F) in the human CAPN3 gene...
  11. ncbi request reprint A new congenital form of X-linked autophagic vacuolar myopathy
    C Yan
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187 8502, Japan
    Neurology 65:1132-4. 2005
    ..Haplotype analysis suggests that this new AVM and XMEA may be allelic despite different clinical presentations...
  12. ncbi request reprint Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I
    A Driss
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan
    Neurology 60:1341-4. 2003
    ..Immunohistochemical and immunoblot analysis showed abnormal expression of alpha-dystroglycan and laminin-alpha2 supporting the hypothesis that FKRP has a role in the interaction between the extracellular matrix components...
  13. ncbi request reprint Ullrich disease due to deficiency of collagen VI in the sarcolemma
    H Ishikawa
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    Neurology 62:620-3. 2004
    ..Only one of the patients had a mutation in the collagen VI gene, suggesting that the primary abnormality in most of the patients involved some other molecules...
  14. ncbi request reprint Clinicopathological features of genetically confirmed Danon disease
    K Sugie
    Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Neurology 58:1773-8. 2002
    ..Danon disease is due to primary deficiency of lysosome-associated membrane protein-2...
  15. pmc Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter
    M Hirano
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Am J Hum Genet 63:526-33. 1998
    ..We found no evidence to implicate three candidate genes in this region, by using direct sequence analysis for DNA helicase II and by assaying enzyme activities for arylsulfatase A and carnitine palmitoyltransferase...
  16. pmc Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan
    M N Astejada
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Tokyo, Japan
    Acta Myol 26:159-64. 2007
    ..Increased number and variation in size of myonuclei were detected. More precise observations using electron microscopy is warranted to characterize the detailed nuclear changes in nuclear envelopathy...
  17. ncbi request reprint Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan
    M Okada
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Ogawahigashi cho, Kodaira, Tokyo, Japan
    Neurology 69:1035-42. 2007
    ..To determine the frequency of primary collagen VI deficiency in congenital muscular dystrophy (CMD) in Japan and to establish the genotype-phenotype correlation...
  18. ncbi request reprint A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation
    J Aoki
    Department of Neurology, Fukushima Medical University, Hikarigaoka, Fukushima, Japan
    Neurology 69:804-6. 2007
  19. ncbi request reprint A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement
    D Kaneda
    Department of Neurology, Osaka Red Cross Hospital, Japan
    Neurology 61:128-31. 2003
    ..Defined by distinct clinical features, this disease constitutes the fourth entity in the group of autophagic vacuolar myopathy in which the vacuolar membranes have features of sarcolemma...
  20. ncbi request reprint POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG
    D S Kim
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center for Neurology and Psychiatry, Tokyo, Japan
    Neurology 62:1009-11. 2004
    ..Their patient expressed alpha-dystroglycan (alpha-DG) core protein, but fully glycosylated alpha-DG antibody epitopes were absent, associated with the loss of laminin-binding activity...
  21. ncbi request reprint Infantile autophagic vacuolar myopathy is distinct from Danon disease
    A Yamamoto
    Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP, Kodaira, Tokyo, Japan
    Neurology 57:903-5. 2001
    ..Deposition of C5b-9 and multilayered basal lamina in one patient suggest that the infantile disease is pathogenically similar to X-linked myopathy with excessive autophagy...
  22. ncbi request reprint Sarcolemmopathy: muscular dystrophies with cell membrane defects
    E Ozawa
    National Institute of Neuroscience, NCNP, Tokyo, Japan
    Brain Pathol 11:218-30. 2001
    ..With regard to other sarcolemmopathies, we discuss pathological mechanisms based on available data...
  23. ncbi request reprint A new congenital muscular dystrophy with mitochondrial structural abnormalities
    I Nishino
    Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Muscle Nerve 21:40-7. 1998
    ..Mitochondrial enlargement may represent functional compensation for mitochondrial depletion in the central sarcoplasm, where myofibrillar degeneration occurred...
  24. ncbi request reprint Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
    I Nishino
    Columbia University College of Physicians and Surgeons, Department of Neurology, 630 West 168 Street, P and S 4 443, New York, NY 10032, USA
    Science 283:689-92. 1999
    ..The pathogenic mechanism may be related to aberrant thymidine metabolism, leading to impaired replication or maintenance of mtDNA, or both...
  25. ncbi request reprint Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder
    M Hirano
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    Nucleosides Nucleotides Nucleic Acids 23:1217-25. 2004
    ..MNGIE was the first molecularly characterized genetic disorder caused by abnormal mitochondrial nucleoside/nucleotide metabolism. Future studies are likely to reveal further insight into this expanding group of diseases...
  26. ncbi request reprint Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease
    G Kawahara
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Ogawahigashi cho, Kodaira, Tokyo, Japan
    Neurology 69:1043-9. 2007
    ..We previously reported that the majority of patients with UCMD have sarcolemma-specific collagen VI deficiency (SSCD). More recently, we found heterozygous COL6A1 glycine substitutions in patients with UCMD with SSCD...
  27. ncbi request reprint Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients
    Kazuhiko Tagawa
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawa Higashi, Kodaira, Tokyo 187 8502, Japan
    J Neurol Sci 211:23-8. 2003
    ..This result implies the necessity of other protein(s) for proper membrane localization of dysferlin, or some roles of dysferlin in the cytoplasmic region...
  28. ncbi request reprint Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA
    M Hirano
    Department of Neurology, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
    Semin Cell Dev Biol 12:417-27. 2001
    ..Uncovering the molecular bases of intergenomic communication defects will enhance our understanding of the mechanisms responsible for maintaining mtDNA integrity...
  29. ncbi request reprint Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation
    I Sato
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8502, Japan
    Neurology 70:114-22. 2008
    ..We recently reported that almost all patients with central core disease (CCD) with ryanodine receptor 1 gene (RYR1) mutations in the C-terminal domain had type 1 fibers, nearly exclusively, in addition to typical central cores...
  30. ncbi request reprint Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy. Mutations in brief no. 213. Online
    M Ikezawa
    Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Japan
    Hum Mutat 13:170. 1999
    ..This is the first patient who had a mutation at the central part of an intron of the dystrophin gene instead of at the exon-intron border...
  31. doi request reprint Characterization of the Asian myopathy patients with VCP mutations
    Z Shi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan
    Eur J Neurol 19:501-9. 2012
    ..Despite an increasing number of clinical reports, only one Asian family with IBMPFD has been described...
  32. ncbi request reprint A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy
    I Nishino
    Department of Ultrastructural Research, National Institute of Neuroscience, Tokyo, Japan
    Biochem Biophys Res Commun 225:180-5. 1996
    ..The nucleotide substitution at nt 15915 disrupts a highly conserved base pair in anticodon stem of the tRNA(Thr). Our data suggest that the 15915 mutation is an additional mtDNA mutation responsible for mitochondrial encephalomyopathies...
  33. ncbi request reprint Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness
    H Ishikawa
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo
    Neurology 59:920-3. 2002
    ..Absence of microfibrils on EM, together with normal collagen fibrils and basal lamina, suggests that loss of a link between interstitium and basal lamina may be a new molecular pathomechanism of muscular dystrophy...
  34. ncbi request reprint Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy
    M Tateyama
    Department of Neurology, Tohoku University School of Medicine, Sendai, Japan
    Neurology 58:323-5. 2002
    ..This patient further demonstrated possible clinical heterogeneity of myopathies with mutations in the caveolin-3 gene...
  35. ncbi request reprint A new diagnostic test for VLCAD deficiency using immunohistochemistry
    Y Ohashi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Neurology 62:2209-13. 2004
    ..Biochemical analyses require large amounts of biopsy samples for each enzyme assay...
  36. ncbi request reprint Gene expression analyses in X-linked myotubular myopathy
    S Noguchi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi, Kodaira, Tokyo, 187 8502, Japan
    Neurology 65:732-7. 2005
    ..Analysis of MTM1 knocked-out mice indicates that the characteristic small fibers in XLMTM muscles are due to atrophy rather than hypoplasia...
  37. ncbi request reprint Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy
    K Kawabe
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Tokyo, Japan
    Eur J Neurol 11:657-61. 2004
    ..The correlation between clinical phenotype and the gene mutations was unclear, which suggested the role of additional genetic and epigenetic factors in modifying clinical symptoms...
  38. pmc Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy?
    M C V Malicdan
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan
    Acta Myol 26:171-5. 2007
    ..In this review, we briefly summarize the progress in DMRV research, and highlight efforts of researchers in generating the animal model for this myopathy...
  39. ncbi request reprint Dysferlin expression in tubular aggregates: their possible relationship to endoplasmic reticulum stress
    Koji Ikezoe
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University 60, 812 8582, Fukuoka, Japan
    Acta Neuropathol 105:603-9. 2003
    ..Strong expression of dysferlin in TAs suggests the possibility that it is located not only at the sarcolemma but also in the SR, at least in the pathological conditions...
  40. ncbi request reprint Two novel CAV3 gene mutations in Japanese families
    Kazuma Sugie
    Department of Neuromuscular Research, National Center of Neurology and Psychiatry NCNP, National Institute of Neuroscience, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8502, Japan
    Neuromuscul Disord 14:810-4. 2004
    ..Caveolin-3 was deficient and caveolae were lacking in muscles from both patients. Our data confirm that caveolin-3 deficiency causes LGMD-1C and expand the variability in CAV3 gene mutations...
  41. ncbi request reprint A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
    May Christine V Malicdan
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8502, Japan
    Hum Mol Genet 16:2669-82. 2007
    ..Our findings underscore the notion that hyposialylation plays an important role in the pathomechanism of DMRV/hIBM...
  42. ncbi request reprint Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE
    M Hirano
    Department of Neurology, Columbia University Medical Center, 630 W 168 St, P and S 4 443, New York, NY 10032, USA
    Neurology 67:1458-60. 2006
    ..Thus, alloSCT can correct biochemical abnormalities in the blood of patients with MNGIE, but clinical efficacy remains unproven...
  43. pmc State of the art in muscle lipid diseases
    W C Liang
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    Acta Myol 29:351-6. 2010
    ..As some effective drugs have been widely used and some promising therapies are under certified, comprehensive understanding of these diseases from clinical, pathological and molecular aspects would be of much help for the patients...
  44. ncbi request reprint Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies
    Kazuma Sugie
    Department of Neuromuscular Research, National Institute of Neuroscience, National Hospital for Mental Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    J Neuropathol Exp Neurol 64:513-22. 2005
    ..In conclusion, AVSF with acetylcholinesterase activity are autolysosomes surrounded by secondarily generated intracytoplasmic sarcolemma-like structure and delineates a subgroup of AVMs...
  45. ncbi request reprint Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle
    Yoko Keira
    Department of Neuromuscular Research, National Institute of Neuroscience, 4 1 1 Ogawahigashi, Kodaira, Tokyo 187 8502, Japan
    J Biochem 133:659-64. 2003
    ..Confocal microscopic observation with marker antibodies confirmed that calpain 3 is localized in the N2 region of myofibrils. Furthermore, using this antibody, we examined the localization of calpain 3 in LGMD2A muscles...
  46. ncbi request reprint Familial reducing body myopathy
    Maki Ohsawa
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Brain Dev 29:112-6. 2007
    ..There are no specific clinical characteristics distinctive to RBM, thus further studies are necessary to characterize this disorder both clinically and pathologically...
  47. ncbi request reprint Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy
    Takuro Arimura
    Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan
    Circ J 73:158-61. 2009
    ..The current study was designed to further explore the association of FKTN mutations with DCM or hypertrophic cardiomyopathy (HCM)...
  48. pmc A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
    Terumi Murakami
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawa Higashi, Kodaira, Tokyo, Japan
    Brain Dev 31:465-8. 2009
    ..Presence of small amounts of partly glycosylated alpha-DG may have a role in reducing the clinical symptoms of alpha-dystroglycanopathy...
  49. pmc Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
    Yukiko K Hayashi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    J Clin Invest 119:2623-33. 2009
    ....
  50. doi request reprint Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient
    Sherine Shalaby
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    J Neuropathol Exp Neurol 68:701-7. 2009
    ..This mutation in the second immunoglobulin-like domain impairs myotilin dimerization and alters the binding between myotilin and alpha-actinin, which is known to be important for actin bundling...
  51. ncbi request reprint Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan
    Hiroshi Matsumoto
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi, Kodaira, Tokyo 187 8502, Japan
    Neuromuscul Disord 15:342-8. 2005
    ..This result suggests that other factors can modify clinical features of the patients with glycosylation defects of alpha-DG...
  52. ncbi request reprint Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles
    Satoru Noguchi
    Department of Neuromuscular Research, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi, Kodaira, Tokyo 187 8502, Japan
    J Biol Chem 279:11402-7. 2004
    ..The addition of ManNAc and NeuAc to primary cultured cells normalized sialylation levels, thus demonstrating the therapeutic potential of these compounds for this disease...
  53. ncbi request reprint [Development of therapy for distal myopathy with rimmed vacuoles]
    Ichizo Nishino
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP
    Rinsho Shinkeigaku 49:852-5. 2009
    ....
  54. ncbi request reprint Unfolded protein response and aggresome formation in hereditary reducing-body myopathy
    Teerin Liewluck
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawa Higashi, Kodaira, Tokyo 187 8502, Japan
    Muscle Nerve 35:322-6. 2007
    ..These results suggest that the unfolded protein response caused by the accumulation of misfolded proteins in the endoplasmic reticulum plays an important role in the formation of RBs...
  55. ncbi request reprint A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
    May Christine V Malicdan
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8502, Japan
    Hum Mol Genet 16:115-28. 2007
    ..Our findings underscore the notion that hyposialylation plays an important role in the pathomechanism of DMRV/h-IBM...
  56. ncbi request reprint MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy
    I Nishino
    Department of Ultrastructural Research, National Center of Neurology and Psychiatry NCNP, Tokyo, Japan
    Neuromuscul Disord 8:453-8. 1998
    ..Two patients (one male and one female), who had similar clinicopathologic features, did not have any mutation in the MTM1 gene open reading frame, suggesting that they may have had an autosomal recessive disease...
  57. pmc Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A
    K Goto
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    J Med Genet 41:e12. 2004
  58. ncbi request reprint [Molecular pathomechanism of distal myopathy with rimmed vacuoles]
    Ichizo Nishino
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP
    Rinsho Shinkeigaku 45:943-5. 2005
    ..This indicates the possibility of developing a therapy for DMRV/HIBM by giving these metabolites to patients although we have to await the model mice that are currently being produced at several laboratories...
  59. ncbi request reprint Subcellular localization of fukutin and fukutin-related protein in muscle cells
    Hiroshi Matsumoto
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187 8502, Japan
    J Biochem 135:709-12. 2004
    ..Our data suggest that fukutin and FKRP may be involved at different steps in O-mannosylglycan synthesis of alpha-dystroglycan, and FKRP is most likely involved in the initial step in this synthesis...
  60. ncbi request reprint Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
    May Christine V Malicdan
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Autophagy 3:396-8. 2007
    ....
  61. ncbi request reprint [Animal model of distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy and preclinical trial with sugar compounds]
    Satoru Noguchi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira shi, Tokyo, Japan
    Brain Nerve 62:601-7. 2010
    ..Thus our results show that the oral therapy with NeuAc and ManNAc or their derivatives is safe and effective in preventing myopathic symptoms in Gne(-/-)hGNED176VTg mice, and could be considered as a guide for further therapeutic trials...
  62. doi request reprint Clinical and genetic analysis of lipid storage myopathies
    Aya Ohkuma
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, 187 8502 Tokyo, Japan
    Muscle Nerve 39:333-42. 2009
    ..The 2 patients with PNPLA2 mutations had progressive, non-episodic muscle disease with rimmed vacuoles. This suggests there is a different pathomechanism from other LSMs...
  63. doi request reprint Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle
    May Christine Malicdan
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187 8502, Japan
    Neuromuscul Disord 18:521-9. 2008
    ..In this review, these disorders are briefly characterized, and the role of autophagy in the context of the pathomechanism of these disorders is highlighted...
  64. ncbi request reprint Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism
    Tzung Chang Tsai
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8502, Japan
    Neuromuscul Disord 15:245-52. 2005
    ..A chimeric fusion transcript was detected in patient's muscle by RT-PCR, suggesting this fusion gene product avoids the phenotype. This deletion led us to refine the critical region of CXorf6 for the development of male genitalia...
  65. ncbi request reprint Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness
    Terumi Murakami
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    Ann Neurol 60:597-602. 2006
    ..Fukuyama-type congenital muscular dystrophy is one of the disorders associated with glycosylation defects of alpha-dystroglycan, an indispensable molecule for intra-extra cell membrane linkage...
  66. ncbi request reprint Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31
    T G Nygaard
    Department of Neurology, East Orange Veteran s Administration Medical Center, NJ, USA
    Ann Neurol 46:794-8. 1999
    ..The disorder may be familial with apparent autosomal dominant inheritance. We report a large kindred with essential familial myoclonus-dystonia and map a locus for the disorder to a 28-cM region of chromosome 7q21-q31...
  67. doi request reprint Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1)
    Sherine Shalaby
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8502, Japan
    Neuromuscul Disord 18:959-61. 2008
    ..Reducing bodies were observed in few fibers of the patient's muscle sample. Amount of FHL1 protein was decreased on immunoblotting. In conclusion, FHL1 can be one of the causative genes for RSS...
  68. doi request reprint Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B
    Young Eun Park
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawa Higashi, Kodaira, 187 8502 Tokyo, Japan
    Neuromuscul Disord 19:29-36. 2009
    ....
  69. ncbi request reprint Expression of MBNL and CELF mRNA transcripts in muscles with myotonic dystrophy
    Yuriko Nezu
    Department of Life Sciences, Graduate School of Arts and Sciences, The University of Tokyo, Tokyo, Japan
    Neuromuscul Disord 17:306-12. 2007
    ..Our results suggest that the expression and stability of the mRNA for these RNA-binding proteins are unaffected in DM1...
  70. ncbi request reprint cDNA microarray analysis of individual Duchenne muscular dystrophy patients
    Satoru Noguchi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi, Kodaira, Tokyo 187 8502, Japan
    Hum Mol Genet 12:595-600. 2003
    ..The expression patterns of these genes correlated with the severity of dystrophic changes on histological examination. Our cDNA microarray provides a new tool to investigate molecular muscle pathology...
  71. doi request reprint Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes
    Genri Kawahara
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo, Japan
    Muscle Nerve 38:1192-5. 2008
    ..This indicates that heterozygous mutations in COL6 genes diminish the anchorage of collagen VI microfibrils to the extracellular matrix surrounding myocytes. This is the cause for sarcolemma-specific collagen VI deficiency...
  72. doi request reprint Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM
    May Christine V Malicdan
    Department of Neuromuscular Research and Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Physiol Genomics 35:106-15. 2008
    ..In older age, and particularly in gastrocnemius muscles, RVs and intracellular inclusions were seen in type IIA fibers, further aggravating reduction of force and specific increase in twitch-tetanus ratio...
  73. doi request reprint ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
    Wen Chen Liang
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8502, Japan
    Neuromuscul Disord 19:212-6. 2009
    ..Three patients improved on riboflavin together with carnitine. Our results show that not all MADD patients have CoQ(10) deficiency. Based upon our data, riboflavin and carnitine may be the first-line treatment for MADD...
  74. ncbi request reprint Expression of myoferlin in skeletal muscles of patients with dysferlinopathy
    Masahiko Inoue
    Department of Neurology, Showa University Fujigaoka Hospital, 1 30 Fujigaoka, Yokohama 227 8501, Japan
    Tohoku J Exp Med 209:109-16. 2006
    ..Thus, the compensatory overexpression of myoferlin was not detected in muscles with dysferlinopathy...
  75. doi request reprint Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives
    May Christine V Malicdan
    National Institute of Neurosciences, National Center of Neurology and Psychiatry, Tokyo, Japan
    Curr Opin Neurol 21:596-600. 2008
    ..This review aims to update our knowledge of this myopathy and to review studies about pathomechanism and therapeutic strategies...
  76. ncbi request reprint Dysferlinopathy associated with rigid spine syndrome
    Toshiko Nagashima
    Department of Neurology, Seiwa Memorial Hospital, Sapporo, Japan
    Neuropathology 24:341-6. 2004
    ..This study might propose some clues to resolve the combination of musular dystrophies and rigid spine syndrome...
  77. ncbi request reprint [Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies]
    Ichizo Nishino
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP
    Rinsho Shinkeigaku 50:1-6. 2010
    ..In contrast, rimmed vacuoles are secondarily caused by extra-lysosomal defects, such as hyposialylation in DMRV/HIBM, and are formed at later stages of the disease...
  78. ncbi request reprint Limb-girdle muscular dystrophy due to emerin gene mutations
    Shigehisa Ura
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawa Higashi, Kodaira, Tokyo 187 8502, Japan
    Arch Neurol 64:1038-41. 2007
    ....
  79. ncbi request reprint Distal myopathy in multi-minicore disease
    Satomi Mitsuhashi
    National Institute of Neuroscience, Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Tokyo
    Intern Med 48:1759-62. 2009
    ..This is probably a unique form of distal myopathy characterized by the presence of multi-minicores with preferential involvement of type 1 fibers...
  80. doi request reprint Isolated inflammatory myopathy with rimmed vacuoles presenting with dropped head
    Hiroshi Kataoka
    Department of Neurology, Nara Medical University, Kashihara, Nara, Japan
    Neuromuscul Disord 19:853-5. 2009
    ..Electron microscopy demonstrated autophagic vacuoles and tubulofilamentous inclusions. This myopathy can cause dropped head syndrome in a subgroup of patients...
  81. pmc Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles
    Ritsuko Ozawa
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    Am J Pathol 168:907-17. 2006
    ..Our results suggest that emerin deficiency causes minimal motor and cardiac dysfunctions in mice with a structural fragility of myonuclei...
  82. ncbi request reprint Autophagic degradation of nuclear components in mammalian cells
    Young Eun Park
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Autophagy 5:795-804. 2009
    ....
  83. doi request reprint Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model
    May Christine V Malicdan
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    Nat Med 15:690-5. 2009
    ..These results support the notion that DMRV-hIBM can potentially be treated simply by giving sialic acids, a strategy that could be applied in clinical trials in the near future...
  84. ncbi request reprint Central core disease is due to RYR1 mutations in more than 90% of patients
    Shiwen Wu
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan
    Brain 129:1470-80. 2006
    ..However, no mutation was found, suggesting that these genes may not, or only rarely, be responsible for CCD. Our results indicate that CCD may be caused by RYR1 mutations in the majority of patients...
  85. doi request reprint Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification
    Asako Arai
    Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo, Japan
    Neuromuscul Disord 19:485-8. 2009
    ..Besides the severe muscle involvement, these clinical findings further broaden the clinical spectrum of actinopathy phenotypes...
  86. pmc Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines
    Jun Mitsui
    Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo 113 8655, Japan
    Am J Hum Genet 87:75-89. 2010
    ....
  87. doi request reprint Monitoring autophagy in muscle diseases
    May Christine V Malicdan
    Department of Neuromuscular Research, National Institute of Neurosciences, National Center of Neurology and Psychiatry, Tokyo, Japan
    Methods Enzymol 453:379-96. 2009
    ..Thus, in this chapter, methods applicable to both human and murine skeletal muscle preparation for the analysis and monitoring of autophagy are presented...
  88. ncbi request reprint Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT
    Satomi Okahashi
    Department of Neurology, Higashisaitama Hospital, National Hospital Organization, Hasuda, Japan
    Intern Med 47:305-7. 2008
    ....
  89. ncbi request reprint Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene
    Tatsuya Yamasoba
    Department of Otolaryngology, University of Tokyo, Tokyo, Japan
    Neuromuscul Disord 12:506-12. 2002
    ....
  90. doi request reprint Distal lipid storage myopathy due to PNPLA2 mutation
    Aya Ohkuma
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8502, Japan
    Neuromuscul Disord 18:671-4. 2008
    ..The patient had a homozygous four-base duplication (c.475_478dupCTCC) in exon 4 of PNPLA2...
  91. pmc Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2
    Hua Yang
    Department of Neurology, Columbia University Medical Center, Berrie 303A, New York, NY 10032, USA
    Hum Mol Genet 19:170-80. 2010
    ..These mouse models should be of use in further studies of Sco2 function, as well as in testing therapeutic approaches to treat the human disorder...
  92. ncbi request reprint Csk-homologous kinase interacts with SHPS-1 and enhances neurite outgrowth of PC12 cells
    Hiroaki Mitsuhashi
    Department of Life Sciences, Graduate School of Arts and Sciences, University of Tokyo, Tokyo, Japan
    J Neurochem 105:101-12. 2008
    ..Co-expression of SHPS-1 and CHK enhanced neurite outgrowth in PC12 cells. Thus, CHK phosphorylates and associates with SHPS-1 and is involved in neural differentiation via SHP-2 activation...
  93. ncbi request reprint Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia
    Tesseki Kin
    Department of Neurology, Nara Medical University School of Medicine, 840 Shijo Cho, Kashihara, Nara 634 8522, Japan
    J Hum Genet 51:555-8. 2006
    ..Collectively, our findings suggest that HN may be specifically expressed in response to defects in energy production in muscles with mitochondrial abnormalities...
  94. ncbi request reprint FSHD-like patients without 4q35 deletion
    Gaku Yamanaka
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawa Higashi, Kodaira, Tokyo 187 8502, Japan
    J Neurol Sci 219:89-93. 2004
    ..FSHD is clinically, and most likely genetically, as well, variable. Other forms of muscular dystrophy can also mimic FSHD...
  95. ncbi request reprint Characterization of Danon disease in a male patient and his affected mother
    Kazuma Sugie
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, 187 8502, Tokyo, Japan
    Neuromuscul Disord 13:708-11. 2003
    ..In contrast, in the muscle biopsy from the mother there were no vacuoles even though she had decreased LAMP-2...
  96. doi request reprint Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
    Kiyoko Ishii
    Department of Child Neurology, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 32:669-72. 2010
    ..Early diagnosis is important because riboflavin treatment has been effective in a significant number of patients with MADD...
  97. ncbi request reprint Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy
    Ikuya Nonaka
    Division of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187 8502, Japan
    Curr Neurol Neurosci Rep 5:61-5. 2005
    ..Although defective glycosylation to a muscle fiber has been suggested, the mechanism by which myofibrillar degeneration is followed by rimmed vacuole formation remains to be clarified...
  98. ncbi request reprint The first molecular evidence that autophagy relates rimmed vacuole formation in chloroquine myopathy
    Takashi Suzuki
    Department of Life Science, Graduate School of Arts and Sciences, The University of Tokyo, Komaba, Meguro ku, Tokyo 153 8902
    J Biochem 131:647-51. 2002
    ..Therefore, we concluded that autophagy plays an important role in rimmed vacuole formation in certain muscular atrophies...
  99. ncbi request reprint Sporadic inclusion body myositis in Japanese is associated with the MHC ancestral haplotype 52.1
    Adrian Phillip Scott
    School of Surgery and Pathology, M504, UWA, Stirling Highway, Nedlands, WA 6009, Perth WA, Australia
    Neuromuscul Disord 16:311-5. 2006
    ..These findings indicate that different MHC ancestral haplotypes are associated with sIBM in different ethnic groups and further emphasize the importance of genetic factors in this condition...
  100. ncbi request reprint Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies
    Mariko Taniguchi
    Division of Clinical Genetics, Department of Medical Genetics, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita, Osaka 565 0871, Japan
    Hum Mol Genet 15:1279-89. 2006
    ..Although severe necrotic degeneration or wasting of skeletal muscle fibers is the main cause of congenital muscular dystrophies, maturational delay of muscle fibers also underlies the etiology of secondary alpha-DGpathies...
  101. ncbi request reprint Distal myopathy with rimmed vacuoles in a case of opercular syndrome
    Yoshitaka Toriumi
    Department of Pediatrics, Shimane University School of Medicine, Izumo 693 8501, Japan
    Brain Dev 28:458-61. 2006
    ....