M Hirano

Summary

Affiliation: Graduate School
Country: Japan

Publications

  1. pmc Juvenile Bow Hunter's Stroke without Hemodynamic Changes
    Kozue Saito
    Department of Neurology, Nara Medical University, Kashihara, Nara, Japan
    Clin Med Insights Case Rep 3:1-4. 2010
  2. pmc Abnormal cystatin C levels in two patients with bardet-biedl syndrome
    Makito Hirano
    Department of Neurology, Sakai Hospital Kinki University Faculty of Medicine
    Clin Med Insights Case Rep 4:17-20. 2011
  3. doi request reprint Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis
    Makito Hirano
    Department of Neurology, Sakai Hospital, Kinki University Faculty of Medicine, Osaka, Japan
    Neurology 80:458-63. 2013
  4. ncbi request reprint DNA single-strand break repair is impaired in aprataxin-related ataxia
    Makito Hirano
    Department of Neurology, Radioisotope Research Center, Nara Medical University, Nara, Japan
    Ann Neurol 61:162-74. 2007
  5. ncbi request reprint Short half-lives of ataxia-associated aprataxin proteins in neuronal cells
    Makito Hirano
    Department of Neurology, Nara Medical University, Kashihara, Nara, Japan
    Neurosci Lett 419:184-7. 2007
  6. ncbi request reprint A family with Campylobacter enteritis: anti-GD1a antibody with/without Guillain-Barré syndrome
    M Hirano
    Department of Neurology, Nara Medical University, Kashihara, Japan
    Neurology 60:1719-20. 2003
  7. ncbi request reprint Mosaicism and phenotype in ring chromosome 20 syndrome
    T Nishiwaki
    Department of Neurology, Nara Medical University, Nara, Japan
    Acta Neurol Scand 111:205-8. 2005
  8. ncbi request reprint Loss of function mechanism in aprataxin-related early-onset ataxia
    Makito Hirano
    Department of Neurology, Nara Medical University, Nara, Japan
    Biochem Biophys Res Commun 322:380-6. 2004
  9. pmc Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene
    Y Tamaru
    Department of Medical Genetics, Nara Medical University, Kashihara, Japan
    J Neurol Neurosurg Psychiatry 64:469-73. 1998
  10. ncbi request reprint A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia
    M Hirano
    Department of Medical Genetics, Nara Medical University, Kashihara, Japan
    Neurosci Lett 260:181-4. 1999

Collaborators

Detail Information

Publications47

  1. pmc Juvenile Bow Hunter's Stroke without Hemodynamic Changes
    Kozue Saito
    Department of Neurology, Nara Medical University, Kashihara, Nara, Japan
    Clin Med Insights Case Rep 3:1-4. 2010
    ..He had an anomalous bypass of the VA and therefore no symptomatic hemodynamic changes. Thus, non-hemodynamic BHS should be considered in juvenile patients with vertebrobasilar stroke...
  2. pmc Abnormal cystatin C levels in two patients with bardet-biedl syndrome
    Makito Hirano
    Department of Neurology, Sakai Hospital Kinki University Faculty of Medicine
    Clin Med Insights Case Rep 4:17-20. 2011
    ..Because this disease is diagnosed by accumulation of symptoms, such a sensitive marker might help early diagnosis of BBS...
  3. doi request reprint Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis
    Makito Hirano
    Department of Neurology, Sakai Hospital, Kinki University Faculty of Medicine, Osaka, Japan
    Neurology 80:458-63. 2013
    ....
  4. ncbi request reprint DNA single-strand break repair is impaired in aprataxin-related ataxia
    Makito Hirano
    Department of Neurology, Radioisotope Research Center, Nara Medical University, Nara, Japan
    Ann Neurol 61:162-74. 2007
    ..The goal of this study was to prove the functional involvement of APTX in SSB repair (SSBR)...
  5. ncbi request reprint Short half-lives of ataxia-associated aprataxin proteins in neuronal cells
    Makito Hirano
    Department of Neurology, Nara Medical University, Kashihara, Nara, Japan
    Neurosci Lett 419:184-7. 2007
    ..We further found that mutants were targeted for rapid proteasome-mediated degradation. These results help establish pathogenic and physiological protein characteristics of APTX in neuronal cells...
  6. ncbi request reprint A family with Campylobacter enteritis: anti-GD1a antibody with/without Guillain-Barré syndrome
    M Hirano
    Department of Neurology, Nara Medical University, Kashihara, Japan
    Neurology 60:1719-20. 2003
  7. ncbi request reprint Mosaicism and phenotype in ring chromosome 20 syndrome
    T Nishiwaki
    Department of Neurology, Nara Medical University, Nara, Japan
    Acta Neurol Scand 111:205-8. 2005
    ..Our results provide important clinical information and prediction for r(20) syndrome...
  8. ncbi request reprint Loss of function mechanism in aprataxin-related early-onset ataxia
    Makito Hirano
    Department of Neurology, Nara Medical University, Nara, Japan
    Biochem Biophys Res Commun 322:380-6. 2004
    ..Our findings suggest that the clinical phenotypes are caused by a loss of aprataxin function, attributable largely to diminished HIT activity but partially to a reduction in the levels of gene products...
  9. pmc Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene
    Y Tamaru
    Department of Medical Genetics, Nara Medical University, Kashihara, Japan
    J Neurol Neurosurg Psychiatry 64:469-73. 1998
    ..In the present study, the GTP-CH-I gene and the clinical features of eight HPD/DRD patients from six families were analysed to determine the correlations between clinical expression and the mutations in the GTP-CH-I gene...
  10. ncbi request reprint A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia
    M Hirano
    Department of Medical Genetics, Nara Medical University, Kashihara, Japan
    Neurosci Lett 260:181-4. 1999
    ....
  11. ncbi request reprint Decrease of the D3 dopamine receptor mRNA expression in lymphocytes from patients with Parkinson's disease
    Y Nagai
    Department of Neurology, Osaka University Medical School, Osaka, Japan
    Neurology 46:791-5. 1996
    ..A further binding study showed reduction of the D3R binding sites in PD lymphocytes. The decrease of the D3R mRNA expression correlated with the degree of clinical severity in PD patients...
  12. ncbi request reprint Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia
    S Ueno
    Department of Medical Genetics, Nara Medical University, Shijo cho 840, Kashihara, 634 8521, Nara, Japan
    Brain Dev 22:S111-4. 2000
    ..Co-expression analysis showed that mutant enzyme (GCH-G90V) inactivated the normal enzyme in the COS cells. Similarly, GCH-G203R showed the dominant negative effects. These results supported our proposed hypothesis...
  13. ncbi request reprint Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia
    Makito Hirano
    Department of Neurology, Nara Medical University, 840 Shijo Cho, Kashihara, Nara 634 8522, Japan
    Neurosci Lett 366:120-5. 2004
    ..Thus, the alternative splicing increases the molecular diversity of aprataxin and the expression profiles of these transcripts in various tissues may be related to the tissue-specific phenotypes...
  14. ncbi request reprint Coexistence of Ramsay Hunt syndrome and varicella-zoster virus encephalitis
    T Kin
    Dept of Neurology, Nara Medical University, 840 Shijo Cho, Kashihara, Nara 634 8522, Japan
    Infection 34:352-4. 2006
    ..Although concomitant diseases such as diabetes and chronic renal failure may lead to an aggressive course, all patients described in detail have had good outcomes...
  15. doi request reprint Odor abnormalities caused by bilateral thalamic infarction
    Hirohide Asai
    Department of Neurology, Nara Medical University, 840 Shijo Cho, Kashihara, Nara 634 8522, Japan
    Clin Neurol Neurosurg 110:500-1. 2008
    ..These observations suggested that direct and/or indirect bilateral involvement of the DM might be associated with odor abnormalities in patients with thalamic infarction...
  16. doi request reprint Cerebrospinal fluid-orexin levels and sleep attacks in four patients with Parkinson's disease
    Hirohide Asai
    Department of Neurology, Nara Medical University, 840 Shijo Cho, Kashihara, Nara 634 8522, Japan
    Clin Neurol Neurosurg 111:341-4. 2009
    ..Recent studies suggest that SAs in PD may be related to impairment of hypothalamic orexin neurons, similar to narcolepsy. Whether orexin is associated with long-term activation of dopaminergic receptors remains uncertain...
  17. ncbi request reprint Sympathetic disturbances increase risk of sudden cardiac arrest in sporadic ALS
    Hirohide Asai
    Department of Neurology, Nara Medical University, Kashihara, Nara 634 8522, Japan
    J Neurol Sci 254:78-83. 2007
    ..In these diseases increased risk of sudden cardiac arrest is established, while that in ALS remains uncertain...
  18. ncbi request reprint Alpha-1-antichymotrypsin gene polymorphism and susceptibility to multiple system atrophy (MSA)
    Yoshiko Furiya
    Department of Neurology, Nara Medical University, Medial School, Kashihara, Nara 634 8521, Japan
    Brain Res Mol Brain Res 138:178-81. 2005
    ..To our knowledge, this is the first study to show that the ACT-AA genotype is a risk factor and modulating factor for MSA. Our findings suggest the involvement of ACT-relating inflammatory process in the pathogenesis of MSA...
  19. ncbi request reprint Increased vulnerability to L-DOPA toxicity in dopaminergic neurons From VMAT2 heterozygote knockout mice
    Shingo Kariya
    Department of Neurology, Nara Medical University, Nara, Japan
    J Mol Neurosci 27:277-79. 2005
    ..Our results suggest that reduction of VMAT2 activity might attenuate the efficacy of L-DOPA therapy for patients with PD...
  20. ncbi request reprint Effect of humanin on decreased ATP levels of human lymphocytes harboring A3243G mutant mitochondrial DNA
    Shingo Kariya
    Department of Neurology, Nara Medical University, Kashihara, Nara 634 8522, Japan
    Neuropeptides 39:97-101. 2005
    ..We thus propose that HN, which increases cellular ATP levels without inducing mtDNA replication, may be suited for the treatment of MELAS...
  21. ncbi request reprint Humanin attenuates apoptosis induced by DRPLA proteins with expanded polyglutamine stretches
    Shingo Kariya
    Department of Neurology, Nara Medical University, Nara, 634 8522, Japan
    J Mol Neurosci 25:165-9. 2005
    ..Although the details remain uncertain, our results suggest that ASK1 is potentially involved in pathogenesis of DRPLA and that HN might contribute partially to the suppression of neurodegeneration in polyQ diseases...
  22. ncbi request reprint Lack of association between polymorphic microsatellites of the VMAT2 gene and Parkinson's disease in Japan
    Shingo Kariya
    Department of Neurology, Nara Medical University, Kashihara, Nara 634 8522, Japan
    J Neurol Sci 232:91-4. 2005
    ..Our data suggest that the polymorphic region of the VMAT2 gene studied here is not closely related to PD...
  23. ncbi request reprint Humanin improves impaired metabolic activity and prolongs survival of serum-deprived human lymphocytes
    Shingo Kariya
    Department of Neurology, Nara Medical University, Kashihara, Nara, Japan
    Mol Cell Biochem 254:83-9. 2003
    ..This novel feature of HN may enable us to apply this peptide for the management of diseases involving poor metabolic activity, such as mitochondria-related disorders and brain ischemia...
  24. ncbi request reprint Global and region-specific analyses of apparent diffusion coefficient in dentatorubral-pallidoluysian atrophy
    T Kin
    Department of Neurology, Nara Medical University, 840 Shijo Cho, Kashihara, Nara 634 8522, Japan
    AJNR Am J Neuroradiol 27:1463-6. 2006
    ..We attempted to quantify global and region-specific neurodegeneration in DRPLA using analysis of apparent diffusion coefficient (ADC) maps...
  25. ncbi request reprint Restoration of nuclear-import failure caused by triple A syndrome and oxidative stress
    Takao Kiriyama
    Department of Neurology, Faculty of Medicine, Nara Medical University School of Medicine, 840 Shijo Cho, Kashihara, Nara 634 8522, Japan
    Biochem Biophys Res Commun 374:631-4. 2008
    ..These findings may help develop treatments for currently intractable triple A syndrome and other oxidative-stress-related neurological diseases, and contribute to nuclear compartmentalization study...
  26. ncbi request reprint Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset
    M Hirano
    Department of Medical Genetics, Nara Medical University, Japan
    Ann Neurol 40:796-8. 1996
    ..These results demonstrate the importance of mutant mRNA levels for phenotypic variability among cases with the same mutation...
  27. ncbi request reprint Molecular cloning and expression of a novel peptide (LN1) gene: reduced expression in the renal cortex of lupus nephritis in MRL/lpr mouse
    M Iwano
    First Department of Internal Medicine, Nara Medical University, Japan
    Biochem Biophys Res Commun 229:355-60. 1996
    ..Although the function of LN1 remains to be elucidated, its reduced expression may contribute to the pathogenesis of lupus nephritis...
  28. ncbi request reprint Chronic fentanyl treatments induce the up-regulation of mu opioid receptor mRNA in rat pheochromocytoma cells
    M Yoshikawa
    Department of Anesthesiology, Nara Medical University, 840 Shijo Cho, Kashihara, Nara, Japan
    Brain Res 859:217-23. 2000
    ..The present study could be relevant to understanding the molecular mechanisms of opioids in a state of drug tolerance or dependence, and in patients under anesthesia or being treated for pain...
  29. doi request reprint Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin
    Hirohide Asai
    Department of Neurology, Nara Medical University School of Medicine, 840 Shijo Cho, Kashihara, Nara 634 8522, Japan
    Hum Mol Genet 18:3533-43. 2009
    ..Decreased nuclear APTX increased oxidative stress-induced DNA damage and cell death. Phosphorylation-resistant APTX, kinase inhibitors, and antioxidants may be therapeutic options for SCA14...
  30. ncbi request reprint Two novel spliced presenilin 2 transcripts in human lymphocyte with oxidant stress and brain
    Nobuyuki Takahashi
    Department of Neurology, Nara Medical University, Kashihara, Japan
    Mol Cell Biochem 252:279-83. 2003
    ....
  31. doi request reprint Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients
    Tomohisa Nishiwaki
    Radioisotope Research Center, Nara Medical University School of Medicine, Kashihara, Nara 634 8521, Japan
    DNA Repair (Amst) 7:1990-8. 2008
    ..Since TFIIH is a repair/transcription factor, TTD-specific alterations of TFIIH possibly result in transcriptional defects, which might be implication for the lack of increased incidence of skin cancers in TTD patients...
  32. ncbi request reprint Increased gastric motility during 5-HT4 agonist therapy reduces response fluctuations in Parkinson's disease
    Hirohide Asai
    Department of Neurology, Nara Medical University, 840 Shijo Cho, Kashihara, Nara 634 8522, Japan
    Parkinsonism Relat Disord 11:499-502. 2005
    ..There were no adverse reactions. We conclude that selective 5-HT4 agonist therapy is beneficial for patients with PD who have RFs...
  33. doi request reprint Naturally- and experimentally-designed restorations of the Parkin gene deficit in autosomal recessive juvenile parkinsonism
    Hirohide Asai
    Department of Neurology, Faculty of Medicine, Nara Medical University School of Medicine, Japan
    Biochem Biophys Res Commun 391:800-5. 2010
    ..Collectively, we propose that naturally- and experimentally-induced exon skipping at least partly restores the mutant Parkin gene deficit, providing a molecular basis for the development of therapeutic exon skipping...
  34. ncbi request reprint Cytoprotective effect of novel histone deacetylase inhibitors against polyglutamine toxicity
    Shingo Kariya
    Department of Neurology, Nara Medical University, Kashihara, Japan
    Neurosci Lett 392:213-5. 2006
    ..Although our study showed mild neuroprotective effects, further structural modification of compounds that retain this residue may decrease cytotoxicity and increase protective activity against polyQ toxicity...
  35. pmc ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome
    Makito Hirano
    Department of Neurology, Nara Medical University, 840 Shijo Cho, Kashihara 634 8522, Japan
    Proc Natl Acad Sci U S A 103:2298-303. 2006
    ..Consequent DNA damage, beyond the limited capacity of DNA repair proteins, i.e., APTX and ligase I, may participate in triggering cell death...
  36. ncbi request reprint A new variant Cu/Zn superoxide dismutase (Val7-->Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis
    M Hirano
    Department of Medical Genetics, Nara Medical University, Japan
    Biochem Biophys Res Commun 204:572-7. 1994
    ..Restriction fragment length polymorphism analysis confirmed the linkage of this mutation with this type of FALS. Both enzymatic activity and protein of the SOD1 were reduced in red blood cells from the patient...
  37. ncbi request reprint SPECT revealed cortical dysfunction in a patient who had genetically definite megalencephalic leukoencephalopathy with subcortical cysts
    Takao Kiriyama
    Department of Neurology, Nara Medical University School of Medicine, Kashihara, Nara, Japan
    Clin Neurol Neurosurg 109:526-30. 2007
    ..Although confirmation must await future larger-scale SPECT and functional studies, our findings suggest that SPECT can be used to non-invasively monitor in vivo cortical function in this disease...
  38. ncbi request reprint Humanin detected in skeletal muscles of MELAS patients: a possible new therapeutic agent
    Shingo Kariya
    Department of Neurology, Nara Medical University, 840 Shijo Cho, Kashihara, 634 8522 Nara, Japan
    Acta Neuropathol 109:367-72. 2005
    ..From these in vivo and in vitro findings, we propose that HN expression might be induced in response to the energy crisis within affected fibers and vessels in MELAS muscles and further be a possible therapeutic candidate for MELAS...
  39. ncbi request reprint Proton MR spectroscopy of adult-onset dentatorubral-pallidoluysian atrophy
    Tesseki Kin
    Department of Neurology, Nara Medical University, Kashihara, Japan
    Magn Reson Med Sci 4:123-7. 2005
    ..To quantify impairment of the basal ganglia (globus pallidus and thalamus) in adult-onset dentatorubral-pallidoluysian atrophy (DRPLA)...
  40. 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...
  41. ncbi request reprint Diffusivity and diffusion anisotropy of cerebellar peduncles in cases of spinocerebellar degenerative disease
    Toshiaki Taoka
    Department of Radiology, Nara Medical University, Japan
    Neuroimage 37:387-93. 2007
    ..This study accessed the feasibility of using tractography-based analysis to evaluate the apparent diffusion coefficient (ADC) and fractional anisotropy (FA) of three cerebellar peduncles in subtypes of spinocerebellar degenerative disease...
  42. ncbi request reprint Artery-to-artery embolism with a mobile mural thrombus due to rotational vertebral artery occlusion
    Kozue Saito
    Department of Neurology, Nara Medical University, Nara, Japan
    J Neuroimaging 20:284-6. 2010
    ..He had a mobile mural thrombus at the VA occlusion site on head rotation. Surgical treatment may effectively prevent recurrences...
  43. ncbi request reprint White matter T2 hyperintensity development and clinical deterioration after status epilepticus in a patient with dentatorubral-pallidoluysian atrophy
    Miwa Takamure
    Department of Neurology, Nara Medical University, 840 Shijo Cho, Kashihara, Nara 634 8522, Japan
    Clin Neurol Neurosurg 108:482-5. 2006
    ..The chronological relationship between the signal changes and the clinical deterioration suggested that the epilepsy, at least in part, contributed to the progression of white matter degeneration, the hallmark of DRPLA...
  44. ncbi request reprint Interferon causes no myasthenia in a seropositive patient with multiple sclerosis
    Hisao Shimizu
    Department of Neurology, Nara Medical University, 840 Shijo Cho, Kashihara, Nara 634 8522, Japan
    Clin Neurol Neurosurg 109:277-8. 2007
    ..The interferon beta-1b therapy then provided a clinical benefit. Hopefully this report will allow MS patients in similar situations to make more rapid, unprejudiced judgments than our patients...
  45. pmc Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia
    Yoshiko Furiya
    J Neurol Neurosurg Psychiatry 78:1009-11. 2007