N Shimozawa

Summary

Affiliation: Gifu University
Country: Japan

Publications

  1. ncbi Molecular and neurologic findings of peroxisome biogenesis disorders
    Nobuyuki Shimozawa
    Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan
    J Child Neurol 20:326-9. 2005
  2. ncbi Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Gifu, 500 8076, Japan
    Biochem Biophys Res Commun 262:504-8. 1999
  3. ncbi Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Gifu, Japan
    Hum Mol Genet 9:1995-9. 2000
  4. ncbi Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene
    Nobuyuki Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Gifu, Japan
    Hum Mutat 23:552-8. 2004
  5. ncbi Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Biochem Biophys Res Commun 243:368-71. 1998
  6. ncbi Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, 40 Tsukasa Machi, Gifu 500 8076, Japan
    Hum Mol Genet 8:1077-83. 1999
  7. ncbi A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Japan
    J Hum Genet 44:123-5. 1999
  8. ncbi Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene
    Nobuyuki Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Tsukasa machi 40, Gifu 500 8705, Japan
    Adv Exp Med Biol 544:71. 2003
  9. ncbi Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation
    Nobuyuki Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Tsukasa machi 40, Gifu 500 8705, Japan
    Am J Med Genet A 120:40-3. 2003
  10. ncbi A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome
    Nobuyuki Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Gifu 500 8076, Japan
    Biochem Biophys Res Commun 292:109-12. 2002

Collaborators

Detail Information

Publications70

  1. ncbi Molecular and neurologic findings of peroxisome biogenesis disorders
    Nobuyuki Shimozawa
    Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan
    J Child Neurol 20:326-9. 2005
    ..We also identified 32 Japanese patients with peroxisome biogenesis disorders, subdivided into six complementation groups. Our institution acts as the only diagnostic center for studies on peroxisomal disorders in Japan...
  2. ncbi Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Gifu, 500 8076, Japan
    Biochem Biophys Res Commun 262:504-8. 1999
    ..It seems apparent that -AKL and -KANL are poorer variants of PTS1 and are likely to be more susceptible to effects of mutation of its receptor, Pex5p...
  3. ncbi Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Gifu, Japan
    Hum Mol Genet 9:1995-9. 2000
    ..A PEX3-defective CHO mutant clone, ZPG208, was of the same complementation group as group G...
  4. ncbi Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene
    Nobuyuki Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Gifu, Japan
    Hum Mutat 23:552-8. 2004
    ..Q185X). Furthermore, we showed that the patient's fibroblasts lacked PEX14 as determined by immunocytochemical analysis. These findings indicate that there are 13 genotypes in PBD and that the role of PEX14 is also essential in humans...
  5. ncbi Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Biochem Biophys Res Commun 243:368-71. 1998
    ..There were no complementations by the human PEX 13 gene. The nature of the related gene is being investigated...
  6. ncbi Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, 40 Tsukasa Machi, Gifu 500 8076, Japan
    Hum Mol Genet 8:1077-83. 1999
    ....
  7. ncbi A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Japan
    J Hum Genet 44:123-5. 1999
    ..R232ter, which deletes all of the last two WP40 repeats in the PEX7 gene, is sufficient to inactivate functions of the PEX7 gene...
  8. ncbi Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene
    Nobuyuki Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Tsukasa machi 40, Gifu 500 8705, Japan
    Adv Exp Med Biol 544:71. 2003
  9. ncbi Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation
    Nobuyuki Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Tsukasa machi 40, Gifu 500 8705, Japan
    Am J Med Genet A 120:40-3. 2003
    ..Based on the value of 24 PBD patients identified during the last 10 years, we estimated the prevalence of PBD in Japan to be approximately one in 500,000 births...
  10. ncbi A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome
    Nobuyuki Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Gifu 500 8076, Japan
    Biochem Biophys Res Commun 292:109-12. 2002
    ..As a consequence, the cell's ability to membrane synthesis and protein import is disrupted, which implies that the changed C terminus of the Pex16p in these patients likely affects its function...
  11. ncbi Molecular mechanism of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Gifu, 500 8076, Japan
    Biochem Biophys Res Commun 268:31-5. 2000
    ..Furthermore, a defect in the C-terminal portion of Pex2p exposed to the cytosol containing a RING finger motif caused the mild phenotype, residual enzyme activities, and mosaic detectable peroxisomes in fibroblasts from the patient...
  12. ncbi Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease
    S Fukuda
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Hum Mutat 7:123-34. 1996
    ..No family member has evidence of any malignant disease. This study is apparently the first documentation of interstitial deletion of 16q24.3, involving GALNS and APRT genes...
  13. pmc D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder
    Y Suzuki
    Department of Pediatrics, Gifu University School of Medicine, Gifu, Japan
    Am J Hum Genet 61:1153-62. 1997
    ..This seems to be the first report of D-bifunctional protein deficiency. Patients previously diagnosed as cases of L-bifunctional protein deficiency probably should be reexamined for a possible d-bifunctional protein deficiency...
  14. ncbi Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Pediatr Res 39:812-5. 1996
    ..In Zellweger fibroblasts obtained from Roscher's group 1 and transfected with human cDNA encoding PMP70, peroxisomes were not morphologically identifiable, and peroxisomal function did not normalize...
  15. ncbi Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders
    Z Zhang
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Hum Mutat 13:487-96. 1999
    ..This mutation analysis will aid in understanding the functions of the PEX6 protein in peroxisomal biogenesis. Hum Mutat 13:487-496, 1999...
  16. pmc Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders
    N Shimozawa
    Department of Paediatrics, Gifu University School of Medicine, Japan
    J Med Genet 36:779-81. 1999
    ..These data suggest that allelic heterogeneity of the PEX gene affects the peroxisomal protein import and functions and regulates the clinical severity in PBD...
  17. pmc Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans
    S Fukuda
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Am J Hum Genet 59:1210-20. 1996
    ..1. These results confirm that human PAF-2 cDNA restores peroxisome of group C cells and that defects in the PAF-2 produce peroxisome deficiency of group C PBD...
  18. ncbi Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations
    A Yamagishi
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Hum Mutat 7:23-9. 1996
    ..These data continue to document the molecular heterogeneity and racial differences in mutations in MPS-I...
  19. ncbi A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Hum Mutat . 1998
  20. ncbi Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region
    Y Nakashima
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Genomics 20:99-104. 1994
    ..The region -98 to -1 upstream of the ATG codon was defined by deletion analysis to be a minimal promoter. One GC box in this region is likely to be a binding site of a regulatory element...
  21. ncbi Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or by StyI and StuI cleavages
    S Tomatsu
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Hum Genet 95:243-4. 1995
    ..These polymorphisms were readily detected by single-strand conformation polymorphism (SSCP), using the polymerase chain reaction (PCR)...
  22. ncbi Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans
    A Imamura
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Brain Dev 22:8-12. 2000
    ....
  23. ncbi Prenatal diagnosis of peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency
    Y Suzuki
    Department of Pediatrics, Gifu University School of Medicine, Japan
    J Hum Genet 44:143-7. 1999
    ..No neuronal migration disorder was identified. This seems to be the first prenatal diagnosis of D-BP deficiency...
  24. ncbi D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes
    K Nakano
    Department of Pediatrics, Tokyo Women s Medical University, Japan
    J Pediatr 139:865-7. 2001
    ..The patient had psychomotor retardation and craniofacial dysmorphism and died at 7 months of age. The patient had atypical fetal manifestations of this enzyme deficiency...
  25. ncbi Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS)
    T Hori
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Genomics 26:535-42. 1995
    ..The same rearrangement has been observed in a heteroallelic state in four unrelated patients. This is the first documentation of a common double deletion a gene that is not a member of a gene cluster...
  26. ncbi Assignment of the human peroxisome assembly factor-1 gene (PXMP3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization
    M Masuno
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Genomics 20:141-2. 1994
  27. pmc Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis
    Y Suzuki
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Am J Hum Genet 54:36-43. 1994
    ....
  28. ncbi Epilepsy in peroxisomal diseases
    Y Takahashi
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Epilepsia 38:182-8. 1997
    ..There is no relation between the electroclinical characteristics of epilepsy and the genetic complementation groups in peroxisomal diseases...
  29. pmc Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency
    S Tomatsu
    Department of Pediatrics, Gifu University School of Medicine, Gifu, Japan
    Am J Hum Genet 58:950-62. 1996
    ..This finding is consistent with a common founder for all individuals with this mutation...
  30. ncbi A human gene responsible for Zellweger syndrome that affects peroxisome assembly
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Science 255:1132-4. 1992
    ..The homozygous patient apparently inherited the mutation from her parents, each of whom was heterozygous for that mutation...
  31. ncbi Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene
    S Tomatsu
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Hum Mutat 10:368-75. 1997
    ..These findings, coupled with previously reported mutations, bring the total of different mutations to 41 among independent families with MPS IVA, illustrating the extensive allelic heterogeneity among mutations producing MPS IVA...
  32. ncbi Biochemical and immunocytochemical properties of peroxisomes and mitochondria in bovine chromaffin cells
    Y Suzuki
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Cell Struct Funct 22:615-9. 1997
    ..Adrenal chromaffin cells are useful materials for investigating the peroxisomal and mitochondrial metabolism of autonomic neurons and may contribute to the clarification of neuronal dysfunction in peroxisomal and mitochondrial disorders...
  33. ncbi Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies
    Michinori Funato
    Department of Pediatrics, Graduate School of Medicine, Gifu University, 1 1 Yanagido, Gifu 501 1194, Japan
    Brain Dev 28:287-92. 2006
    ..These results give an important clue to elucidating the division of peroxisomes and how peroxisomes change in size, shape, number and position within cells, which are subjects for future study...
  34. ncbi Accumulation of glycolipids in mutant Chinese hamster ovary cells (Z65) with defective peroxisomal assembly and comparison of the metabolic rate of glycosphingolipids between Z65 cells and wild-type CHO-K1 cells
    M Saito
    Department of Pediatrics, Faculty of Medicine, University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 8655, Japan
    Biochim Biophys Acta 1438:55-62. 1999
    ..Thus, the altered metabolism of glycosphingolipids, probably due to peroxisomal dysfunction, was thought to be responsible for the change in glycosphingolipid composition in Z65 cells...
  35. ncbi Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele
    K Sukegawa
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Hum Mutat 10:361-7. 1997
    ....
  36. ncbi Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders
    Y Suzuki
    Department of Pediatrics, Gifu University School of Medicine, Japan
    J Inherit Metab Dis 24:151-65. 2001
    ..Investigations using knockout mice are expected to facilitate understanding of migration disorders...
  37. ncbi Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene
    T Ogawa
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Hum Mol Genet 4:341-9. 1995
    ....
  38. ncbi Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7
    K Naritomi
    Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan
    Hum Genet 84:79-80. 1989
    ..This is the second case of Zellweger syndrome associated with a rearrangement of chromosome 7, the tentative gene assignment to 7q11 being further supported; the gene is probably confiend to 7q11.23...
  39. ncbi Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder
    Kazuyuki Hashimoto
    Department of Pediatrics, Gifu University School of Medicine, Gifu 501 1194, Japan
    Pediatr Res 58:263-9. 2005
    ..Structural analyses of the protein in the other genetic diseases could provide an avenue for better understanding of genotype-phenotype correlations...
  40. ncbi Marinesco-Sjögren syndrome associated with acute myeloblastic leukemia
    S Fukuda
    Department of Pediatrics, Gifu University, School of Medicine, Tsukasa machi, Japan
    Clin Genet 51:278-80. 1997
    ..This is the first report of Marinesco-Sjögren syndrome associated with malignant disorders...
  41. ncbi BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal
    H Kaneko
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Biochem Biophys Res Commun 240:348-53. 1997
    ..These results show that the BLM protein translocates into the nucleus and that the distal arm of the bipartite basic residues in the C-terminus of the BLM protein is essential for targeting the nucleus...
  42. ncbi Urinary organic acids in peroxisomal disorders: a simple screening method
    S Yamaguchi
    Department of Pediatrics, Shimane Medical University, Izumo, Japan
    J Chromatogr B Biomed Sci Appl 758:81-6. 2001
    ..Urinary organic acid analysis is indeed useful for screening subjects with peroxisomal disorders...
  43. ncbi The clinical course of childhood and adolescent adrenoleukodystrophy before and after Lorenzo's oil
    Y Suzuki
    Department of Pediatrics, Gifu University School of Medicine, Tsukasa-machi 40, 500-8705, Gifu, Japan
    Brain Dev 23:30-3. 2001
    ..05), and tended to appear later than the early symptoms. These results would reflect the early natural course of childhood and adolescent ALD before treatment, and provide a basis for the evaluation of therapeutic trials for ALD...
  44. ncbi Bone marrow transplantation for the treatment of X-linked adrenoleukodystrophy
    Y Suzuki
    Department of Pediatrics, Gifu University School of Medicine, Japan
    J Inherit Metab Dis 23:453-8. 2000
    ..Identification of presymptomatic boys, and serial and careful follow-up by neuropsychological and neuroradiological studies, are essential prerequisites to successful BMT in X-ALD...
  45. ncbi Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II
    Tomomi Kato
    Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan
    J Hum Genet 50:395-402. 2005
    ..In addition, effects by deletion or frameshift mutations could also be interpreted by the structure. Structural analysis of mutant proteins would help in understanding the genotype/phenotype relationships of Hunter disease...
  46. ncbi Natural history of X-linked adrenoleukodystrophy in Japan
    Yasuyuki Suzuki
    Medical Education Development Center, Gifu University School of Medicine, Yanagido 1 1, Gifu 501 1194, Japan
    Brain Dev 27:353-7. 2005
    ..These finding will improve the understanding of the natural history of X-linked ALD and will provide a basis for the evaluation of specific treatment for X-linked ALD...
  47. doi Parents of childhood X-linked adrenoleukodystrophy: high risk for depression and neurosis
    Izumi Kuratsubo
    Department of Pediatrics, Gifu University Graduate School of Medicine, Yanagido 1 1, Gifu 501 1194, Japan
    Brain Dev 30:477-82. 2008
    ..Especially, early intervention for mental health problems should be provided for younger mothers with few years since the child's diagnosis...
  48. ncbi Peroxisomal localization in the developing mouse cerebellum: implications for neuronal abnormalities related to deficiencies in peroxisomes
    Tomoko Nagase
    Department of Pediatrics, Gifu University School of Medicine, 40 Tsukasa Machi, Gifu 500 8705, Japan
    Biochim Biophys Acta 1671:26-33. 2004
    ..As peroxisomes in glial cells may control the development of neurons, the neuron-glial interaction and mechanisms of developing central nervous systems deserve ongoing attention...
  49. ncbi Magnetic resonance imaging of acute cerebellar ataxia: report of a case with gadolinium enhancement and review of the literature
    Z Kato
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Acta Paediatr Jpn 40:138-42. 1998
    ..This is the first report of an ACA case with positive gadolinium enhancement. Cases of ACA with MRI abnormalities are reviewed and the clinical entity of ACA is discussed in association with autoimmune encephalitis...
  50. ncbi Enhanced expression of a-series gangliosides in fibroblasts of patients with peroxisome biogenesis disorders
    K Tatsumi
    Department of Pediatrics, Faculty of Medicine, University of Tokyo, Japan
    Biochim Biophys Acta 1535:285-93. 2001
    ..These results may help to clarify the pathogenesis of PBD with respect to the functional roles of glycosphingolipids in cell differentiation, proliferation and apoptosis...
  51. ncbi Life-threatening cardiac involvement throughout life in a case of Costello syndrome
    T Fukao
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Clin Genet 50:244-7. 1996
    ..We report the case of a Japanese girl with Costello syndrome, who experienced life-threatening cardiac involvement throughout her life...
  52. ncbi Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis
    S Kumada
    Department of Pediatrics, Musashino Red Cross Hospital, Tokyo, Japan
    Am J Med Genet 98:250-5. 2001
    ..This patient may represent a new lethal form of chondrodysplasia punctata...
  53. ncbi [Molecular analysis of peroxisomal disorders]
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine
    No To Hattatsu 30:128-33. 1998
    ..The mouse model should facilitate researches on PBD and ALD, especially those on regulatory factors of their phenotypic heterogeneity and on new therapeutic approaches...
  54. ncbi Epidemiology of X-linked adrenoleukodystrophy in Japan
    Yasuhiko Takemoto
    Department of Pediatrics Gifu, University School of Medicine, 40 Tsukasa Machi, Gifu 500 8705, Japan
    J Hum Genet 47:590-3. 2002
    ..The family histories revealed that brothers and first cousins tended to show similar phenotypes, whereas nephews tended to develop symptoms earlier than uncles. These data will help in understanding the natural history of X-linked ALD...
  55. ncbi Molecular and clinical aspects of peroxisomal diseases
    N Shimozawa
    Division of Genomics Research, Life Science Research Center, Gifu University, Yanagido 1 1, Gifu, 501 1193, Japan
    J Inherit Metab Dis 30:193-7. 2007
    ..Further study of and enlightenment on peroxisomal diseases is necessary to overcome these disorders...
  56. ncbi An extremely severe case of cutaneous calcinosis with juvenile dermatomyositis, and successful treatment with diltiazem
    Y Ichiki
    Department of Dermatology and Department of Paediatrics, School of Medicine, Gifu University, 40 Tsukasa Machi, Gifu 500 8705, Japan
    Br J Dermatol 144:894-7. 2001
    ..These nodules gradually increased in size despite continual therapy with steroids and aluminium hydroxide. Treatment with diltiazem completely suppressed the development of calcinosis...
  57. ncbi Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders
    Yasuhiko Takemoto
    Department of Pediatrics, Gifu University School of Medicine, Tsukasa machi 40, Gifu 500 8705, Japan
    Brain Dev 25:481-7. 2003
    ..Two of eight patients with ZS, two of four with RCDP, and all of three classical Refsum patients showed increased levels of phytanic acid. This method will simplify the screening for peroxisomal disorders...
  58. ncbi Peroxisomal acyl CoA oxidase deficiency
    Yasuyuki Suzuki
    Department of Pediatrics and Medical Education Development Center, Gifu University School of Medicine, Japan
    J Pediatr 140:128-30. 2002
    ..Molecular investigations revealed 2 novel missense mutations, M278V and G178C...
  59. ncbi Changes of autonomic nervous system function in patients with breath-holding spells treated with iron
    Kenji E Orii
    Department of Pediatrics, Gifu University School of Medicine, Japan
    J Child Neurol 17:337-40. 2002
    ..After iron treatment was started, the heart rate variability increased during sleep. It appears that supplementation of iron is effective in improving the dysregulation of autonomic nervous system reflexes...
  60. pmc A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents
    Annick Raas-Rothschild
    Department of Human Genetics, Hadassah University Hospital, Jerusalem 91120, Israel
    Am J Hum Genet 70:1062-8. 2002
    ..Because of considerable overlap between USH and milder PBD phenotypes, individuals suspected to have USH should be screened for peroxisomal dysfunction...
  61. ncbi Role of Pex19p in the targeting of PMP70 to peroxisome
    Yoshinori Kashiwayama
    Department of Biological Chemistry, Faculty of Pharmaceutical Sciences, Toyama Medical and Pharmaceutical University, 2630 Sugitani, Japan
    Biochim Biophys Acta 1746:116-28. 2005
    ..These results suggest that Pex19p binds to PMP70 co-translationally and keeps PMP70 as a proper conformation for the localization to peroxisome...
  62. doi Changes in the amounts of myelin lipids and molecular species of plasmalogen PE in the brain of an autopsy case with D-bifunctional protein deficiency
    Makiko Saitoh
    Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Hongo 7 3 1, Bunkyo ku, Tokyo 113 0033, Japan
    Neurosci Lett 442:4-9. 2008
    ..These alterations in the molecular species of brain lipids may affect sensitivity to oxidative stress and the membrane fluidity of neural cells, thereby producing the brain pathology of d-BP deficiency...
  63. ncbi The common phospholipid-binding activity of the N-terminal domains of PEX1 and VCP/p97
    Kumiko Shiozawa
    International Graduate School of Arts and Sciences, Yokohama City University, 1 7 29 Suehiro cho, Tsurumi ku, Yokohama, Kanagawa 230 0045, Japan
    FEBS J 273:4959-71. 2006
    ..By mutational analysis, we demonstrate that a conserved arginine surrounded by hydrophobic residues is essential for lipid binding, despite very low sequence similarity between PEX1 and valosine-containing protein...
  64. pmc Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation
    Naomi Matsumoto
    Department of Biology, Faculty of Sciences, Kyushu University Graduate School, Fukuoka, Japan
    Am J Hum Genet 73:233-46. 2003
    ..These findings confirm that the degree of temperature sensitivity in pex26 cell lines is predictive of the clinical phenotype in patients with PEX26 deficiency...
  65. ncbi Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations
    Norimasa Takahashi
    Department of Biological Chemistry, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan
    J Neurochem 101:1632-43. 2007
    ..Further, the region between transmembrane domain 2 and 3 is important for the targeting of ALDP to the peroxisome...
  66. ncbi Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L
    Naohide Shiroma
    Department of Inherited Metabolic Disease, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1, Tokyo, Japan
    Brain Dev 25:116-21. 2003
    ..We conclude that molecular genetic analysis of the GFAP gene is feasible for antemortem diagnosis of Alexander disease in Japanese patients...
  67. doi Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders
    Osama Y Al-Dirbashi
    National Laboratory for Newborn Screening, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    J Lipid Res 49:1855-62. 2008
    ..In conclusion, this method allows for the detection of at least nine PDs in a 5 min analytical run. Furthermore, this derivatization approach is potentially applicable to other disease markers carrying the carboxylic group...
  68. ncbi Baicalein 5,6,7-trimethyl ether, a flavonoid derivative, stimulates fatty acid beta-oxidation in skin fibroblasts of X-linked adrenoleukodystrophy
    Masashi Morita
    Department of Biological Chemistry, Faculty of Pharmaceutical Science, Toyama Medical and Pharmaceutical University, 2630 Sugitani, Toyama 930 0194, Japan
    FEBS Lett 579:409-14. 2005
    ..These results make baicalein-tri-Me a candidate for the therapeutic compound for X-ALD...
  69. ncbi Proteomic analysis of rat liver peroxisome: presence of peroxisome-specific isozyme of Lon protease
    Miki Kikuchi
    Harima Institute at SPring 8, RIKEN, Mikazuki, Sayo, Hyogo 679 5148, Japan
    J Biol Chem 279:421-8. 2004
    ..The peroxisomal localization of the protein was confirmed by immunological techniques. The peroxisome-type Lon protease, which is distinct from the mitochondrial isoform, may play an important role in the peroxisomal biogenesis...
  70. doi Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis
    Yuji Takahashi
    Department of Neurology, Graduate School of Medicine, University of Tokyo, Hongo 7 3 1, Bunkyo ku, Tokyo 113 8655, Japan
    Arch Neurol 65:1326-32. 2008
    ....